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Biomedical subjects

M Mimouni

Publications and source records attributed to M Mimouni.

At least 37 records · Page 2Linked to original sources

Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).

We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.

Adrenal Insufficiency↗

The validity of the uriscreen test for early detection of urinary tract infection in children.

OBJECTIVE: To determine the validity of the Uriscreen, a rapid diagnostic test based on the detection of urine catalase for the early detection of urinary tract infection (UTI) in children, compared with standard urinalysis and dipstick tests. STUDY DESIGN. Cross-sectional study. STUDY POPULATION: Children 1 month to 17 years of age who presented to the emergency department of a pediatric tertiary care center between March and November of 1996 with symptoms suggestive of UTI. METHODS: Urine specimens obtained from a random sample of 121 patients were evaluated simultaneously for possible UTI by Uriscreen (catalase test), urinalysis (microscopic pyuria), dipstick (leukocyte esterase and nitrite), and quantitative urine culture. All specimens were collected by one of three sterile techniques (midstream void technique, bladder catheterization, or suprapubic aspiration), as appropriate for age, and tested immediately. Using the quantitative urine culture as the gold standard (reference test), the sensitivity, specificity, and positive and negative predictive values of all the screening tests were determined and compared. Age, sex, temperature, presenting symptoms, and method of urine collection were recorded for each participant. RESULTS: Of the 121 patients, 35 (28.9%) had positive culture results: 30 girls (85.7%) and 5 boys (14.3%). Compared with urinalysis and dipstick tests, Uriscreen had the highest sensitivity (100% vs 88.6% and 97.1%, respectively) and the highest negative predictive value (100% vs 95% and 98.6%, respectively), but the poorest specificity (68.6% vs 88.4% and 82.5%, respectively) and positive predictive value (56.4% vs 75.6% and 69.4%, respectively). CONCLUSIONS: The clinical use of Uriscreen for the presumptive diagnosis of UTI in children is limited and not significantly superior to urinalysis or the dipstick test. However, because of its 100% sensitivity and negative predictive value and its ease of use, rapidity, and low cost, it is recommended highly for ruling out the diagnosis of UTI. In laboratories, a negative Uriscreen result may prevent the need for performing expensive urine cultures.

Bacteriuria↗

Emergency room visits of asthmatic children, relation to air pollution, weather, and airborne allergens.

BACKGROUND: The worldwide increase in the incidence, prevalence, and severity of asthma may suggest that environmental factors play a role in these epidemiologic changes. OBJECTIVE: To examine the correlations between air pollutants, weather conditions, airborne allergens, and the incidence of emergency room (ER) visits of children with acute asthma attacks. DESIGN: One-year prospective study. Data of daily concentration of air pollutants, weather conditions, and selective airborne allergens were collected and compared with the number of ER visits of asthmatic children. SUBJECTS: 1076 asthmatic children (aged 1 to 18 years) who presented at the Pediatric ER between January 1 and December 31, 1993. RESULTS: Correlations between fluctuations in ER visits of asthmatic children and various environmental parameters were more relevant for weekly than for daily values. Emergency room visits correlated positively with concentrations of NOx, SO2 and with high barometric pressure; and negatively with O3 concentration and minimal and maximal temperature. There were no significant correlations with concentrations of particulates, humidity, or airborne pollen and spores. An exceptionally high incidence of ER visits of asthmatic children was observed during September. This peak coincided with the beginning of the school year and the Jewish holidays. The correlations between ER visits and the environmental factors increased significantly when the September peak was excluded, revealing that 61% of the variance in ER visits was explained by NOx, SO2, and 03 concentrations, 46% by weather parameters, 66% by NOx, SO2 and barometric pressure, and 69% by the combination of air pollutants and weather parameters. CONCLUSION: The major factors found to be associated with ER visits of asthmatic children were high NOx, high SO2, and high barometric pressure. Negative correlation was found between ER visits of asthmatic children and ozone concentrations. The particularly high number of ER visits at the beginning of the school year and the Jewish holidays was probably associated with an increase in the number of viral infections and/or emotional stress.

Adolescent↗

Scrotal involvement in Henoch-Schönlein purpura in children.

Different rates of scrotal involvement in Henoch-Schönlein purpura (HSP) have been reported. We assessed scrotal involvement in 86 children over a 20-year period: 10 patients suffered from scrotal involvement and 9 of them also had arthritis. The possible association between scrotal involvement and arthritis may help the physician in the differential diagnosis of atypical presentations.

Adolescent↗

Ultrasonography of the optic nerves: clinical application in children with pseudotumor cerebri.

OBJECTIVE: Pseudotumor cerebri (PTC) in children has a wide spectrum of clinical presentations, from headache, which may be posterior and associated with nausea, vomiting or diplopia, to nonspecific headache, which may not be posterior and related or unrelated to other symptoms. In children with nonspecific headache, supportive evidence for diagnosis may be required before invasive procedures such as lumbar punctures are performed. Ultrasonography of the optic nerves (USON) is a noninvasive examination that can provide information about optic nerve changes, including those resulting from increased intracranial pressure. The applicability of USON in the diagnosis and follow-up of PTC was examined. STUDY DESIGN: Seventeen children were referred to our service because of a clinical suspicion of PTC, suggested by the presence of swollen optic nerve discs and/or headache, without clinical evidence of another cause. All had normal brain computed tomography and/or magnetic resonance imaging results before referral. Each child was examined with USON while in the supine position and with a 30-degree head tilt and underwent a lumbar puncture. USON was repeated on follow-up evaluation. RESULTS: The diagnosis of PTC was confirmed by lumbar puncture in 10 children and ruled out in 6 children. Overall, the USON results correlated with an increased opening pressure on lumbar puncture in 11 children. CONCLUSION: We noted an excellent correlation between the clinical results and the USON findings in PTC, and in many cases repeated lumbar punctures could be avoided. USON is more easily applied than a lumbar puncture, without the accompanying risks. It may be used as an indicator of increased intracranial pressure, as well as a follow-up tool. However, further studies are required before the accuracy of USON can be fully established.

Adolescent↗

Tietze's syndrome in children and infants.

Tietze's syndrome, characterized by isolated swelling and tenderness of a costochondral junction, usually occurs in adults. We describe eight cases of Tietze's syndrome in children, four of them aged 1 year or less. The clinical aspects and laboratory and imaging findings should enable the clinician to recognize this benign entity, thereby avoiding invasive diagnostic procedures to rule out other conditions.

Child↗

Severe folliculitis with keloid scars induced by wax epilation in adolescents.

Wax epilation is a popular and generally safe technique used to remove unwanted body hair. We describe two adolescent girls who sustained severe folliculitis following wax epilation. Despite treatment with systemic antibiotics and local treatment, their rash evolved to severe permanent keloid scars. We suggest that parents and adolescents should be advised to perform wax epilation in optimal hygienic conditions. Physicians should be aware of this possible sequela and treat it rapidly and aggressively, with both topical and systemic agents, to avert complications.

Adolescent↗

Familial hypothyroidism with autosomal dominant inheritance.

Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identification of the precise defect by genetic linkage study.

Adolescent↗

Acquired pili torti--a structural hair shaft defect in anorexia nervosa.

The hair of seventeen girls aged 13 to 19 years with anorexia nervosa (AN) was studied and compared with the hair of fifteen healthy girls aged 13 to 18 years with no complaints of hair loss but with similar habits of hairstyling and care. Light microscopic examination of the hair revealed no defect in the control group. In the AN group, fourteen patients (82.3 percent) had pili torti, an acquired hair shaft defect that has not yet been described in association with this disease. We estimate that the hair defect was due to malnutrition combined with ingestion of exaggerated amounts of yellow vegetables and vitamin supplements, causing a significant increase in levels of serum carotene, retinyl esters, retinol, and retinoic acid. We suggest a possible link between excess vitamin A and pili torti in patients with AN.

Adolescent↗

Parental anxiety in febrile convulsions.

Febrile convulsions can cause extreme anxiety to parents. Factors associated with parental anxiety and its relief during and after admission of their child for simple febrile convulsions were studied by questionnaire. Of the 70 parents approached 46 responded (66%), all of whom reported feeling anxiety. Factors directly associated with parental anxiety were lack of knowledge regarding the management of seizures and the performance of a spinal tap or EEG. There was no correlation between a previous seizure in the same child or in a first-degree relative and a decrease in anxiety in the present seizure. Hospital admission of the child yielded no relief of anxiety in 27.3% and some relief in 34.1%. Staff activity was insufficient regarding parental instruction in handling the child in the event of a recurrence. About two-thirds of the parents wished to continue neurologic follow-up after discharge, and about one-half preferred that the child be treated with anticonvulsants. Our findings show that a very intensive effort is required to relieve parental anxiety after febrile convulsions. It is suggested that routine parental preventive education in this area be conducted in well-baby clinics.

Acute Disease↗

Production of adenosine and nucleoside analogs by the exchange reaction catalyzed by rat liver adenosine kinase.

We have previously shown [8] that rat liver adenosine kinase can produce [14C]AMP from [14C]adenosine (Ado) and unlabelled adenosine monophosphate (AMP), in the absence of ATP, by an exchange reaction. In this study, we investigated whether Ado or AMP could be replaced in this exchange reaction by other nucleosides or nucleoside monophosphates (NMP), respectively. In the presence of 1 mM of the unlabelled NMP analogs 7-deazaadenosine (tubercidin) 5'-monophosphate, 6-chloropurine riboside 5'-monophosphate, or N6-methyl-AMP, [14C]AMP was formed from 20 microM [14C]Ado at up to 50% of the rate recorded with 1 mM unlabelled AMP. In the presence of 0.2 mM of the unlabelled analog nucleosides tubercidin, N6-methyladenosine, or 6-methylmercaptopurine riboside, [14C]Ado was generated from 1 mM [14C]AMP at up to 60% of the rate recorded with 0.2 mM unlabeled Ado. Small amounts of [14C]Ado were also formed from the natural nucleosides 5-amino-4-imidazolecarboxamide (AICA) riboside or 2'-deoxyadenosine. Administration of therapeutic anticancer and antiviral nucleosides that can serve as substrates for the exchange reaction catalyzed by adenosine kinase might, thus, result in a net production of Ado, a potent autacoid with physiological effects in numerous tissues.

Adenosine↗

Cerebral calcinosis and learning disabilities in hypoparathyroidism: a cause and effect or a coincidence?

A 12-year-old child is described in whom the presentation of learning difficulties and history of previous cataract removal led to a diagnosis of primary hypoparathyroidism. Cranial computed tomography revealed extensive calcinosis, previously described only in adults with long-standing hypoparathyroidism, and neuropsychologic evaluation revealed a marked symmetrical decrease in intellectual function. The possibility of the severe complication of brain calcinosis necessitates prompt diagnosis and treatment of hypoparathyroidism.

Brain Diseases↗

Prognosis of infantile seborrheic dermatitis.

Of 191 children who had had infantile seborrheic dermatitis, 88 were reexamined after 10 years. One child had psoriasis, four had atopic dermatitis, and seven had seborrheic dermatitis, which suggests a link with adult seborrheic dermatitis. A familial tendency toward infantile seborrheic dermatitis was noted, as was an increased incidence of allergy within the family.

Child, Preschool↗

Problems of differentiation between epilepsy and non-epileptic paroxysmal events in the first year of life.

Twenty two babies under 1 year old were referred for evaluation of suspected epileptic seizures. Nine were found to have epilepsy. In the other 13--all developing normally, aged up to 10 months--the spells were non-epileptic paroxysmal events (NEPE). They consisted of five patterns of movement: (1) eye blinking; (2) 'no' movements; (3) body posturing with head and arm jerks; (4) masturbation-like movements; and (5) myoclonic head flexion. The NEPE were present for a period of two weeks to seven months. Although some NEPE cannot be clinically differentiated from true epilepsy, in these infants at least four interictal EEGs were normal, the spells completely resolved after a relatively short period without antiepileptic treatment, and the infants continued to develop normally with no evidence of epilepsy during a follow up period of 28 to 38 months. This sample indicates that the frequency of NEPE in the first year of life may be high. Cautious clinical consideration, repeat EEGs and, when appropriate, a few weeks' observation are recommended. Awareness of these benign behavioural spells in this young age group is important, and parents can be reassured. Nevertheless, the spells may illustrate a 'foggy frontier' between NEPE and epilepsy. The lack of evidence for any other disease process in affected infants, as well as the disappearance of the NEPE without any intervention, indicates that a maturational process may be involved.

Diagnosis, Differential↗