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Biomedical subjects

N Amir

Publications and source records attributed to N Amir.

At least 37 records · Page 2Linked to original sources
PubMed1995

Developmental right-hemisphere syndrome: clinical spectrum of the nonverbal learning disability.

We report the clinical characteristics of the developmental right-hemisphere syndrome (DRHS), a nonverbal learning disability, in 20 children (9 girls and 11 boys; mean age = 9.5 years) who also manifested attention-deficit/hyperactivity disorder (ADHD), severe graphomotor problems, and marked slowness of performance. Diagnostic criteria for this study included (a) emotional and interpersonal difficulties; (b) paralinguistic communication problems; (c) impaired visuospatial skills, verbal IQ > performance IQ, and verbal IQ > or = 85; and either (d) dyscalculia or (e) neurological signs on the left side of the body. In this group, verbal IQ was significantly higher than performance IQ (106.6 +/- 13.0 vs. 85.1 +/- 13.1, respectively, p < .01). Arithmetic was the lowest score among the verbal subtests (7.8 +/- 3.5, p < .01) and Geometrical Design was the lowest score among the performance subtests (5.8 +/- 1.7). Thirteen children had soft neurological signs on the left side of the body. ADHD was seen in all 20 children, marked slowness of performance in 16, and severe graphomotor problems in 18. The latter two features have not been previously described as part of DRHS.

Adolescent↗
PubMed1994

Cognitive processing of idiographic emotional information in panic disorder.

Panic disorder patients, obsessive-compulsive disorder (OCD) patients, and normal control subjects performed a computerized Stroop color-naming task in which they named the colors of panic-threat words (e.g. Collapse), general-threat words (e.g. Infectious), positive words related to panic (e.g. Relaxed), and neutral words (e.g. Sleepy). Idiographic stimulus selection ensured their personal emotional relevance for each subject. In accordance with prediction, panic patients, but not OCD patients, exhibited greater interference for panic-threat words than for positive words related to panic and for neutral words. Panic patients did not respond differentially to panic-threat and general-threat words. Complexities concerning attentional bias research in the anxiety disorders are discussed.

Cognition↗
PubMed1994

The problem of missing clinical data for research in psychopathology: some solution guidelines.

There are no guidelines to help psychiatric researchers statistically adjust for missing data. We discuss the problems resulting from missing values, and illustrate some of them with examples from our work. Using structured instruments, we obtained clinical information from 241 patients. Some instrument items were not rated, and these did not occur randomly: hallucinations and delusions were most frequently unrated, especially in chronic schizophrenics, and patients with high scores for other psychopathology. Systematically assigning an intermediate value between present and absent to nonrated items was a satisfactory solution, unaffected by nonrandom missing values. This simple solution was equivalent to a complicated one (vectoring) in discriminating patients. When relationships between variables are linear, we recommend the intermediate value method as a practical solution to missing values. We stress that missing values do not mean missing information, and the most common response to missing values (dropping subjects) is least informative.

Data Collection↗
PubMed1994

Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy.

A 20-month-old boy of Jewish-Turkish origin presented with severe metabolic acidosis. He was born prematurely and had bacteremia during the neonatal period. Scaly skin eruption, developmental delay, generalized muscular hypertonia, and mild ventriculomegaly were noted during the 1st year. Holocarboxylase synthetase deficiency was diagnosed, and biotin and carnitine were administered. The skin rash and the organic aciduria resolved within several days, and at 30 months, his psychomotor development was appropriate for age. Metabolic evaluation should be performed in patients with combined neurologic and dermatologic symptoms even when medical history suggests a nonmetabolic etiology.

Biotin↗
PubMed1993

Success of estrogen-progesterone therapy in long-standing bleeding gastrointestinal angiodysplasia. Report of a case.

Gastrointestinal angiodysplasia is a common cause of occult bleeding. Surgical and endoscopic treatments are often ineffective. Recently, estrogen-progesterone therapy proved to be effective in these patients. We describe herein an 84-year-old man who presented with prolonged gastrointestinal bleeding, in whom treatment with estrogen-progesterone stopped the bleeding. We suggest that hormonal therapy should be considered in cases of prolonged obscure gastrointestinal bleeding thought to be due to angiodysplasia. This therapy should be instituted intermittently for a prolonged period. The role of progesterone, especially in men, should be reconsidered.

Aged↗
PubMed1993

Deteriorating neurological and neuroradiological course in treated biotinidase deficiency.

We report a 7-month-old female baby with recent onset of neurological manifestations and mucocutaneous candidiasis. Immunological findings were compatible with severe combined immune deficiency (SCID). Infectious etiology of the central nervous system (CNS) involvement was ruled out. Biotinidase deficiency was suspected because of the concomitance of neurological and immunological deficits and was confirmed by enzymatic assay. Comprehensive treatment, including bone marrow transplantation (BMT) and biotin, resulted in immunological recovery, but no improvement of neurological condition. Serial brain CT scans over a period of 2 1/2 years demonstrated profound progression of brain atrophy involving gray matter.

Amidohydrolases↗
PubMed1993

Protracted clinical course for patients with Canavan disease.

Before the establishment of N-acetylaspartic aciduria due to aspartoacylase deficiency as the cause of Canavan disease, diagnosis was based on the characteristic clinical features and spongiform encephalopathy, a pathological response shared by a number of other unrelated conditions. Thus confusion exists in the literature about the phenotype of spongiform encephalopathy (Canavan disease), with reports of 'juvenile' and 'congenital' forms, as well as the classical infantile type. In this report, six of 22 patients with infantile-onset Canavan disease survived beyond six years of age. This phenotypical pattern might be the result of better medical management and care, rather than evidence of genetic heterogeneity.

Adolescent↗
PubMed1993

The acquisition of arithmetic in normal children: assessment by a cognitive model of dyscalculia.

Developmental dyscalculia (DC) is a learning disability affecting the acquisition of arithmetic skills. The authors studied the normal developmental of arithmetic function of 200 normal children in grades 3 to 6. Number comprehension and production were well established by grade 3. With age and experience, children became more adept at addition, subtraction, multiplication and division for both number facts and complex exercises. The scores did not display a Gaussian distribution, but were negatively skewed. Low scores on the battery correlated well with the teacher's rating of the child's arithmetic knowledge, but not with reading ability. An estimate of the fifth centile was calculated. On the basis of these results, the authors conclude that this battery assesses number knowledge. Use of the fifth centile as a cut-off point will aid in identification of children with DC.

Child↗
PubMed1993

Intravenous high-dose gammaglobulins for intractable childhood epilepsy.

Immunological mechanisms have been implicated in the pathogenesis of epileptic seizures in some patients and in experimental animal models of epilepsy. A beneficial effect of high dose intravenous gammaglobulin (IVIG) has been demonstrated for some children with intractable epilepsy. In this study we treated 9 children ages 1.1-9.2 years (mean 5.0 years) with intractable epilepsy not responsive to conventional antiepileptic drugs (AEDs) and steroid therapy. Eight children had Lennox-Gastaut syndrome and 1 had complex partial seizures with secondary generalization. Each child received 3 doses of IVIG (200 mg/kg of polyvalent immunoglobulin) on Days 1, 15 and 36. Concomitant AEDs were not changed. Four children had complete remission, 3 had partial response with a more than 50% reduction in seizure frequency and 2 had no response. Onset of response varied from immediate to 7 months after the last injection. No toxicity was noted. Duration of remission was 9 months in 1 case. The other 3 cases have remained in remission to date with a follow up period of 22-26 months. We conclude that IVIG is a safe therapy which appears to be effective in some children with intractable seizures. Children with shorter duration of their seizure disorder (< 1 year) and relatively preserved cognitive function (IQ > 70) appear to have a more favorable response. Larger scale controlled trials are needed to determine the optimal timing and dosage, as well as to identify specific subgroups which may benefit most from IVIG treatment.

Child↗
PubMed1992

Striatal degeneration and spongy myelinopathy in glutaric acidemia.

The neuropathological findings in a 6 1/2-year-old boy with glutaric acidemia (GA) are described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral striatal degeneration and spongy change of the white matter were the salient features in this case and seem to represent the cardinal pathological features of the disease. Spongy myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath along the intraperiod line, as illustrated here for the first time in GA. Based on morphological, biochemical and pharmacological data from humans and experimental animals, it is hypothesized that excitotoxin-mediated neuronal damage may account for the striatal degeneration, while toxic effect on myelin metabolism by the metabolic derangement of GA may explain the widespread white matter changes.

Amino Acid Metabolism, Inborn Errors↗
PubMed1992

Variability of clinical presentation in fumarate hydratase deficiency.

A 5-year-old girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia was found to excrete excessive fumaric acid in urine. Fumarate hydratase activity in skin fibroblasts was 10% of the control value. This case underscores the clinical heterogeneity of neurometabolic disorders and the importance of organic acid analysis in the diagnosis of static encephalopathy.

Cerebral Palsy↗
PubMed1991

Familial intracranial arachnoid cysts.

Three siblings with intracranial arachnoid cysts are described, two males and one female. One of the males has symmetric, bilateral, temporoparietal convexity cysts, and the others have singular, unilateral cysts. Three additional siblings in the family and other known relatives are clinically unaffected. As far as we know, this is the second reported case of familial intracranial arachnoid cysts and the first involving three siblings. The significance of these cysts and a review of the literature are presented.

Arachnoid Cysts↗
PubMed1990

Late-onset form of partial N-acetylglutamate synthetase deficiency.

A 13-month-old female presented with neurological deterioration of 1 month duration and hyperammonaemia. N-acetylglutamate synthetase activity in the liver was reduced to 33% of the control. A male cousin and a female sister had died following a similar clinical course. This is the first report of late-onset N-acetylglutamate synthetase deficiency. An autosomal-recessive mode of inheritance is suggested.

Acetyltransferases↗
PubMed1990

Cardio-facio cutaneous syndrome: neurological manifestations.

Cardio-facio-cutaneous (CFC) syndrome is a not uncommon syndrome with a characteristic face, mental retardation, abnormal skin and hair and congenital heart disease. We report the 16th case of this syndrome and give details of the spectrum of neurological manifestations in the cases so far reported.

Abnormalities, Multiple↗