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At least 865 records · Page 48Linked to original sources
PubMed1998

[Diagnosis in severe myoclonic epilepsy in childhood: study of 13 cases].

OBJECTIVE: The purpose of this report is to describe clinical pattern, EEG, outcome and differential diagnosis in severe myoclonic epilepsy in infancy (SMEI). MATERIAL AND METHODS: We report 13 cases initially diagnosed of SMEI and selected according to the following criteria: first seizure between 1 and 12 months of life, frequent seizures resistant to antiepileptic drugs, no previous personal history of disease, normal psychomotor development before the first seizure and normal EEG, CT scanning and laboratory analyses at the beginning. CT and/or MRI were performed in 13 cases, arteriography in 2 patients, MR spectroscopic imaging in 1 child and SPECT in 3 cases. Quantification of enzymatic activities of the mitochondrial respiratory chain was made in 5 patients. RESULTS: Only 8 cases were finally diagnosed of SMEI according to ILAE definition. In two cases, seizures were finally controlled with antiepileptic treatment and EEG abnormalities disappeared. Three patients showed other findings: mesiotemporal sclerosis, angiitis diffusely involving CNS and mitochondrial cytopathy with deficiency of the complex IV. CONCLUSIONS: Although diagnosis of SMEI, based on clinical manifestations, is suspected in most cases from the first year of life, final diagnosis should not be confirmed until steady state, when polymorphous seizures occur. Even then, differential diagnosis should be made with other disorders. Perhaps, further studies should be performed in order to identify and eliminate another etiology.

Anticonvulsants↗
PubMed1998

[The validation and efficacy of correcting gastrointestinal disorders in patients with chronic glomerulonephritis who took part in the cleanup of the aftermath of the accident at the Chernobyl Atomic Electric Power Station].

The use is substantiated and efficiency is studied of novel treatment methods to deal with gastroenterologic disorders in 102 patients with chronic glomerulonephritis who took part in the elimination of the aftermath of the Chernobyl accident. Positive clinical and endoscopic effects appeared to be higher in those groups who underwent the informative-wave therapy (IWT) in their multiple-modality treatment versus the group on drug therapy only. IWT in combination with enterosorption were found out to be associated with marked detoxicating and sanogenous effects as well as with improvement of the functional state of the alimentary canal and kidneys.

Adolescent↗
PubMedDate not supplied

[Sodium excretion in children with lithogenic disorders].

INTRODUCTION: The causes of nephrolithisis are multifactorial and have not yet been enough investigated [1]. Hypercalciuria is the most common cause of metabolic nephrolithiasis [2-4]. Close relationship between urinary calcium and urinary sodium has been a subject of reported observations in the past, showing that high urinary sodium is associated with high urinary calcium [5-7]. Hyperoxaluria, hyperuricosuria and cystinuria are also metabolic disorders that can lead to nephrolithiasis. Recent studies have indicated that urinary elimination of cystine is influenced by urinary sodium excretion. Based on these observations it has been hypothesised that patients with high urinary sodium excretion are at high risk of urinary stone disease. The purpose of the study was to investigate sodium excretion in a 24-hour urine and first morning urine collected from children with lithogenic metabolic abnormalities (hypercalciuria, hyperoxaluria, hyperuricosuria, cystinuria), both with nephrolithiasis and without it, in order to determine its significance in urinary calculi formation. PATIENTS AND METHODS: Urinary sodium excretion was investigated in 2 groups of children: patients with lithogenic metabolic abnormalities, but without urinary stone disease (L group) and patients with nephrolithiasis (C group). Both groups were divided into 2 subgroups: patients with hypercalciuria and without it. There were 22 patients in group L (mean age 11.97 +/- 4.13 years), of whom 17 formed a hypercalciuric subgroup and 5 formed a non-hypercalciuric subgroup (3 patients with hyperuricosuria and 2 patients with hyperoxaluria). Group C consisted of 21 patients with nephrolithiasis (mean age 12.67 +/- 3.44 years), of whom 6 formed a hypercalciuric subgroup and 15 formed a non-hypercalciuric group (2 patients with cystinuria and 13 patients without lithogenic metabolic abnormalities). Control group consisted of 42 healthy age-matched children. All subjects had a normal renal function. A detailed history and clinical examination were done, and ultrasonography was performed in all patients. A 24-hour urine, first morning urine and serum specimen were analysed for sodium, potassium, calcium, uric acid, urea and creatinine. Fractional excretion of sodium, as well as urinary sodium to creatinin ratio and urinary sodium to potassium ratio, were calculated from the findings. Sodium and potassium levels were determined by flame photometry, calcium was measured by atomic absorption technique (Beckman Atomic Spectrophotometer, Synchron CX-5 model, USA), uric acid by carbonate method and creatinine by Jaffe technique. Cystine and dibasic amino acids were quantified by ion chromatography. Urinary oxalate excretion was determined by enzyme spectrophotometry. Hypercalciuria was defined by 24-hour calcium excretion greater than 3.5 mg/kg per day and/or calcium to creatinine ratio greater than 0.20 [8]. Uric acid excretion was expressed as uric acid excretion factored for glomerular filtration, according to Stapleton's and Nash's formula [9]. Normal values were lower than 0.57 mg/dl of glomerular filtration rate in 24-hour samples. Mean values were statistically analyzed by Pearson's linear correlation and analysis of variance (ANOVA). RESULTS: Urinary sodium concentration values including urinary sodium to potassium ratios, are shown in Table 1. We found that urinary sodium excretion was significantly increased in patients of both L and C groups when compared with controls (p < 0.05). Further analysis of the subgroups showed that urinary sodium excretion was significantly higher only in patients with hypercalciuria of both L and C groups in comparison to controls (p < 0.05) (Table 2). A significant positive correlation was found between 24-hour urinary sodium to creatinine ratio and urinary calcium to creatinine ratio (r = 0.31; p < 0.001) (Graph 1), as well as between urinary sodium to potassium ratio in 24-hour and first morning urine (r = 0.69; p < 0.001) (Graph 2). (A

Calcium↗
PubMed1986

Overnight nasal CPAP improves hypersomnolence in sleep apnea.

Eleven adult men with sleep apnea underwent nocturnal polysomnography on two successive nights. The first study, done without NCPAP, served as the control. The second (treatment) was done with the application of 7.5 to 15 cm H2O nasal continuous positive airway pressure (NCPAP). A subjective sleepiness index (SSI) was noted upon awakening from each night of polygraphic recording. During the control night, the mean frequency of apnea episodes/sleep hr was 35.95 +/- 4.5 SE, and the mean duration was 28.68 +/- 2.7 sec. Mean frequency of disorder of breathing (DOB) episodes/sleep hr was 19.25 +/- 6.2 and mean duration of DOB episodes was 23.1 +/- 2.8 sec. During the treatment night, all obstructive apnea episodes were abolished. During the control night, the mean decrease in arterial oxygen saturation during obstructive apnea episodes was 11.2 +/- 1.9 percent and the mean lowest saturation was 67.6 +/- 4.0 percent. NCPAP eliminated arterial oxygen desaturation. While 44.5 +/- 5.7 percent of total sleep time was spent in either apnea or disordered breathing during the control night, NCPAP decreased this to 0.73 +/- 0.3 percent. In addition to the improvement in respiration during sleep, SSI decreased from a mean of 3.73 +/- 0.49 after the control night to 1.64 +/- 0.24 after treatment, reflecting an improvement in daytime hypersomnolence. We conclude that nasal CPAP is effective in eliminating obstructive apnea episodes, and results in a marked decrease in daytime hypersomnolence after one treatment night.

Adult↗
PubMed1985

[Prevention of cerebrovascular circulatory disorders].

On reviewing the literature, the meaning of risk factors causing stroke as well as their therapy or elimination as an effective prevention of cerebro-vascular disease is pointed out. Hypertension increases the risk of apoplexy by the fourfold, with regard to the diastolic values of blood pressure by the fivefold up to the tenfold. Consistent therapy of hypertension decreases significantly the incidence of cerebral apoplectic attacks. Manifested diabetes mellitus and even reduced glucose tolerance raise the risk of stroke by the threefold, even though factors frequently associated with diabetes (hypertension, overweight, hyperlipoidaemia) are taken into consideration. Hyperlipidaemia, hypercholesteraemia, and hypertriglyceridaemia stipulate an increase of the incidence of stroke by the twofold to the threefold. Morbidity rate rises if these abnormalities coincide with further risk factors (hypertension, reduced glucose tolerance, smoking cigarettes, hypertrophy of left heart-ECG), up to the sixfold. Nicotine consumption alone increases the risk of cerebral apoplectic attacks in relation to age, by the threefold up to the fivefold. In combination with the use of hormonal contraceptive drugs, the risk of morbidity rate in women rises to the sevenfold. Overweight of more than 30% aggravates twice the risk of stroke. Heart diseases of different kind increase the risk of apoplectic attacks by the twofold; in combination with hypertension by the fivefold. The intake of oral contraceptive drugs causes an increase of cerebral thrombo-embolic attacks by the threefold up to the fivefold, where by a relation to the content of oestrogen and to the disturbances of haemorheology is proven.(ABSTRACT TRUNCATED AT 250 WORDS)

Anticoagulants↗
PubMed2004

Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.

Mutations in fibrillin-1 lead to Marfan syndrome and some related genetic disorders. Many of the more than 600 mutations currently known in fibrillin-1 eliminate or introduce cysteine residues in epidermal growth factor-like modules. Here we report structural and functional consequences of three selected cysteine mutations (R627C, C750G, and C926R) in fibrillin-1. The mutations have been analyzed by means of recombinant polypeptides produced in mammalian expression systems. The mRNA levels for the mutation constructs were similar to wild-type levels. All three mutated polypeptides were secreted by embryonic kidney cells (293) into the culture medium. Purification was readily feasible for mutants R627C and C750G, but not for C926R, which restricted the availability of this mutant polypeptide to selected analyses. The overall folds of the mutant polypeptides were indistinguishable from the wild-type as judged by the ultrastructural shape, CD analysis, and reactivity with a specific antibody sensitive for intact disulfide bonds. Subtle structural changes caused by R627C and C750G, however, were monitored by proteolysis and heat denaturation experiments. These changes occurred in the vicinity of the mutations either as short range effects (R627C) or both short and long range effects (C750G). Enhanced proteolytic susceptibility was observed for R627C and C750G to a variety of proteases. These results expand and further strengthen the concept that proteolytic degradation of mutated fibrillin-1 might be an important potential mechanism in the pathogenesis of Marfan syndrome and other disorders caused by mutations in fibrillin-1.

Amino Acid Sequence↗
PubMed2007

Neocortical and cerebellar developmental abnormalities in conditions of selective elimination of peroxisomes from brain or from liver.

Defects in the formation of the cerebral cortex and the cerebellum are a prominent feature of the peroxisome biogenesis disorder Zellweger syndrome and in mouse models for this disease. The aim of the present study was to investigate the impact of liver and brain peroxisomes on neurodevelopment by analyzing mice with tissue-selective elimination of peroxisomes. To this end, Pex5-loxP mice were bred with albumin/alpha-fetoprotein (Alfp)-Cre and nestin (Nes)-Cre mice. Local elimination of peroxisomes from the brain in Nes-Pex5 knockout mice caused a delay of cortical neuronal migration and of the formation of cerebellar folia and fissures. Migration of granule cells from the external granular layer was retarded, as was the polarization and branching of Purkinje cells, resulting in a less complex branching pattern and a smaller dendritic tree at P21. The Alfp-Pex5 knockout mice were affected differently, displaying a partial arrest of neuronal migration in the cerebral neopallium in the postnatal period despite of the incomplete elimination of peroxisomes from liver during embryonic development. Major abnormalities were seen in the formation of the cerebellum of these liver knockout mice, including hypotrophy, impaired foliation, a delay of granule cell migration, increased cell death, and stunted Purkinje cell arborization. In conclusion, these data demonstrate that absence of peroxisomal function both from liver and brain impairs cortical neuronal migration and maturation of the cerebellum, but different pathogenic mechanisms might be involved.

Age Factors↗
PubMed2005

Delta plots in the study of individual differences: new tools reveal response inhibition deficits in AD/Hd that are eliminated by methylphenidate treatment.

The authors highlight the utility of distribution-analytical techniques in the study of individual differences and clinical disorders. Cognitive deficits associated with attention-deficit/hyperactivity disorder (AD/HD) were examined by using delta-plot analyses of performance data (reaction time and accuracy) obtained through the use of a prototypical conflict task, the Eriksen flanker task. In 20 children with AD/HD (compared with matched control participants), overall performance measures indicated a marginal performance deficit. Delta-plot analyses indicated that performance deficits associated with AD/HD involve response inhibition but not automatic response activation. In a within-subjects titration study, the response inhibition deficit was eliminated by methylphenidate treatment, but these effects were highly dose specific. The beneficial effect of methylphenidate was clarified further after correcting for inter-individual variation in sensitivity to medicine dosage.

Attention↗
PubMed1993

Elimination of infectious antigens and increase of IgG catabolism as possible modes of action of IVIg.

Many mechanisms can explain the mode of action of IVIg in immune disorders. Macrophage blockade and interference in the idiotypic network are supported by some experimental data. Among the other mechanisms, two are considered in greater detail. Firstly, in some disorders, the patients could improve simply because the infused Ig contains antibodies directed against the infectious antigen causing the disease. Secondly, one can expect that IVIg increases the IgG catabolism and therefore the elimination of the autoantibodies. When the concentration of IgG in the plasma reaches 200% of the normal value, for example, the fractional catabolic rate increases up to 180% of its normal value. In other words, the half-life of IgG is decreased from 21 days to 12 days.

Autoantibodies↗
PubMed1996

Haematological, ocular and skeletal abnormalities in a samoyed family.

Haematological, ocular and skeletal abnormalities were documented in a samoyed male and its five offspring. Haematological abnormalities, found in repeated tests in all the dogs, included marked eosinophilia, eosinophilic bands and absence of Barr bodies. Two of the dogs had bilateral buphthalmia, retinal detachments and other ocular abnormalities. Three of the dogs had skeletal abnormalities including chondrodysplasia (dwarfism) and brachygnathia (undershot jaw). A similar combination of inherited skeletal and ocular disorders, without the haematological abnormalities, has been described in samoyeds. Acquired causes for the haematological findings, which are similar to the inherited Pelger-Huët anomaly described in several species, have been eliminated. Eosinophilic bands and scarcity of Barr bodies could be a marker, or a previously unreported manifestation, of an inherited disorder in samoyeds.

Animals↗
PubMed1985

Clinical management of nearpoint stress-induced vision problems.

Functional vision problems caused by or associated with nearpoint vision stress include: accommodative disorders (insufficiency, ill-sustained, infacility); abnormal heterophorias (esophoria, high exophoria); and vergence disorders. These vision disorders cause problems with acuity, comfort, and performance (efficiency). A combination of lens prescribing, vision therapy, and work/study visual hygiene recommendations can eliminate or greatly reduce nearpoint stress-induced vision problems.

Eyeglasses↗
PubMed2000

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.

Mitochondrial encephalomyopathies caused by mitochondrial DNA (mtDNA) defects are a genetically and phenotypically heterogeneous group of disorders. The site, percentage and distribution of mutations do not explain the overall clinical heterogeneity that is found. Apoptosis (programmed cell death) is an evolutionarily conserved mechanism that is essential for tissue development and homeostasis. Dysregulation of apoptosis has been implicated in the pathogenesis of various human diseases, such as cancer and autoimmune and neurodegenerative disorders. Recent in vitro evidence has indicated the central role of mitochondria in the apoptotic process. We investigated the occurrence of apoptosis in muscle biopsies of 36 patients carrying different mtDNA mutations and four patients with inclusion body myositis and mitochondrial abnormalities. Apoptotic features, mainly localized in cytochrome c oxidase-negative fibres, were observed in muscle fibres of patients carrying a high percentage of single mtDNA deletions (>40%) and of tRNA point mutations (>70%). By contrast, no apoptotic changes were observed in inclusion body myositis and in patients carrying mutations of mtDNA structural genes. Our study suggests that apoptosis is not simply a means whereby cells with dysfunctional mitochondria are eliminated, but that it seems to play a role in the pathogenesis of mitochondrial disorders associated with mtDNA defects affecting mitochondrial protein synthesis. The imbalance and relative abundances of nuclear-encoded and mtDNA-encoded subunits may favour cytochrome c inactivation and release. Cytochrome c, together with respiratory chain dysfunction, could activate apoptotic pathways that, in turn, inhibit the rate of mitochondrial translation and the importation of nuclear-encoded mitochondrial protein precursors. This vicious circle may amplify the biochemical defects and tissue damage and contribute to the modulation of clinical features.

Adolescent↗
PubMed2003

Adenovirus expression of IL-1 and NF-kappaB inhibitors does not inhibit acute adenoviral-induced brain inflammation, but delays immune system-mediated elimination of transgene expression.

Despite their ability to provide long-term transgene expression in the central nervous system of naïve hosts, the use of first-generation adenovirus (Ad) vectors for the treatment of chronic neurological disorders is limited by peripheral immunization, which stimulates anti-adenovirus immune responses and causes severe inflammation in the central nervous system (CNS) and elimination of transgene expression. The purpose of this study was to investigate the roles of NF-kappaB and interleukin-1 (IL-1) during inflammatory responses to Ads in the CNS of naïve and preimmunized rats. We assessed activation of macrophages/microglia, up-regulation of MHC I expression, infiltration of leukocytes, and transgene expression following delivery of Ads to the rat striatum. After delivery of increasing doses of adenoviral vectors expressing various anti-inflammatory agents (e.g., NF-kappaB or IL-1 inhibitors) to naïve rats, no reduction in Ad-mediated CNS inflammation was seen 1 week after delivery of Ads, compared to a control Ad.hCMV.beta-galactosidase (RAd.35) virus. We then assessed CNS inflammation and transgene expression at a time when control transgene expression would be completely eliminated, i.e., 1 month post-vector injection into the brain. This would optimize the assessment of an anti-inflammatory agent expressed by an adenoviral vector that could either delay or diminish immune system-mediated elimination of transgene expression. As expected, at 1 month postinfection, control preimmunized rats receiving Ad.mCMV.beta-galactosidase (RAd.36)/saline or RAd.36/Ad.null (RAd.0) showed complete elimination of beta-galactosidase expression in the brain and levels of inflammation comparable to those of naïve animals. However, animals injected with RAd.36 in combination with Ads expressing NF-kappaB or IL-1 inhibitors showed a delayed elimination of beta-galactosidase compared to controls. As predicted, the extended presence of transgene expression was accompanied by increased levels of CNS inflammation. This suggests that blocking NF-kappaB or IL-1 delays, albeit partially, transgene elimination in the presence of a preexisting systemic immune response. Prolonged transgene expression is predicted to extend concurrent brain inflammation, as noted earlier. Taken together these data demonstrate a role for NF-kappaB and IL-1 in immune system-mediated elimination of Ad-mediated CNS transgene expression.

Adenoviridae↗
PubMed2004

Functional analysis and treatment of elopement for a child with attention deficit hyperactivity disorder.

We conducted a functional analysis of elopement in an outdoor setting for a child with a diagnosis of attention deficit hyperactivity disorder. A subsequent treatment consisting of noncontingent attention and time-out was demonstrated to be effective in eliminating elopement. Modifications of functional analysis procedures associated with the occurrence of elopement in a natural setting are demonstrated.

Attention Deficit Disorder with Hyperactivity↗
PubMed1998

Comparison of static mechanical properties of the passive pharynx between normal children and children with sleep-disordered breathing.

Collapsibility of the active pharynx, where active contraction of the upper airway muscles is evident, was previously reported to be higher in children with obstructive sleep apnea (OSA) than in those with primary snoring during sleep. Contribution of neuromuscular and anatomic factors to the increased collapsibility, however, was not estimated. We therefore evaluated collapsibility of the passive pharynx, in which upper airway muscle activities were eliminated. Our aim in the present study was to test the hypothesis that children with sleep-disordered breathing (SDB) have a structurally narrowed and a more collapsible pharynx compared with normal children. The static pressure/area relationship of the passive pharynx was endoscopically quantified in 14 children with SDB and in 13 normal children under general anesthesia with complete paralysis. The majority of children with SDB primarily closed their airways at levels of enlarged adenoids and tonsils with positive closing pressure (Pclose) (3.5+/-4.3 cm H2O), whereas half of the normal children closed their airways at the soft palate edges and the other half at the tongue bases with subatmospheric Pclose (-7.4+/-4.9 cm H2O). Cross-sectional area of the narrowest segment was significantly smaller in SDB children than in normal children. Interestingly, collapsibility of the retropalatal and retroglossal segments significantly increased in SDB children, compared with the normal subjects. We conclude that anatomic factors play a significant role in the pathogenesis of pediatric OSA and that predisposing structural abnormalities of the entire pharynx are likely to contribute to manifestation of OSA in addition to enlarged adenoids and tonsils.

Adenoids↗
PubMed1987

Plasma fat elimination tissue lipoprotein lipase activity and plasma fatty acid composition during sequential treatment with etretinate and isotretinoin.

In an attempt to elucidate the mechanisms underlying retinoid-induced hyperlipidemia, the effects of etretinate (Tigason) and isotretinoin (Roaccutane) on two different plasma fat elimination variables and on the plasma fatty acid composition were studied. Twelve patients with various hyperkeratotic disorders participated in a double-blind cross-over study of etretinate and isotretinoin. Each drug was given for 8 weeks with an 8-week intermission. On five occasions an intravenous fat tolerance test (IVFTT) was performed and the lipoprotein lipase activity (LPLA) in adipose tissue and skeletal muscle was measured. Isotretinoin significantly reduced the fat elimination rate as measured by IVFTT (p less than 0.001) and also decreased the muscle LPLA (p less than 0.05). The etretinate-induced depression of these variables was not statistically significant. The LPLA of adipose tissue and the plasma fatty acid composition were not markedly altered by any of the drugs. The observed changes are probably not sufficient to entirely explain retinoid-induced hyperlipidemia but the results strengthen the opinion that plasma lipid metabolism is more unfavourably affected by isotretinoin than etretinate.

Adipose Tissue↗
PubMed2002

Innate immunity associated with inflammatory responses and cytokine production against common dietary proteins in patients with autism spectrum disorder.

OBJECTIVES: Children with autism spectrum disorder (ASD) frequently reveal various gastrointestinal (GI) symptoms that may resolve with an elimination diet along with apparent improvement of some of the behavioral symptoms. Evidence suggests that ASD may be accompanied by aberrant (inflammatory) innate immune responses. This may predispose ASD children to sensitization to common dietary proteins (DP), leading to GI inflammation and aggravation of some behavioral symptoms. METHODS: We measured IFN-gamma, IL-5, and TNF-alpha production against representative DPs [gliadin, cow's milk protein (CMP), and soy] by peripheral blood mononuclear cells (PBMCs) from ASD and control children [those with DP intolerance (DPI), ASD siblings, and healthy unrelated children]. We evaluated the results in association with proinflammatory and counter-regulatory cytokine production with endotoxin (LPS), a microbial product of intestinal flora and a surrogate stimulant for innate immune responses. RESULTS: ASD PBMCs produced elevated IFN-gamma and TNF-alpha, but not IL-5 with common DPs at high frequency as observed in DPI PBMCs. ASD PBMCs revealed increased proinflammatory cytokine responses with LPS at high frequency with positive correlation between proinflammatory cytokine production with LPS and IFN-gamma and TNF-alpha production against DPs. Such correlation was less evident in DPI PBMCs. CONCLUSION: Immune reactivity to DPs may be associated with apparent DPI and GI inflammation in ASD children that may be partly associated with aberrant innate immune response against endotoxin, a product of the gut bacteria.

Adolescent↗