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Biomedical subjects

M Frydman

Publications and source records attributed to M Frydman.

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

Cerebrospinal fluid pleocytosis in children with pneumonia but lacking evidence of meningitis.

Headache, nuchal rigidity, positive Kernig's sign, and even convulsions may be observed during severe bacterial infections such as pneumonia, pyelonephritis, typhoid fever, and bacillary dysentery. In such cases, meningitis can be excluded only by documentation of normal cerebrospinal fluid (CSF). The authors describe four children with lobar pneumonia in whom the clinical signs of meningeal irritation were associated with a mild increase in the white blood cell count in the CSF (pleocytosis) although there was no other evidence of meningeal infection.

Cerebrospinal Fluid↗
PubMed1993

Extraordinary daytime urinary frequency in children.

BACKGROUND: Sudden onset of daytime urinary frequency of a small amount of urine in a previously toilet-trained child can be a disturbing problem. Psychosocial problems, problems at school, or problems within the family have to be taken into consideration. METHODS: Fifteen children with sudden onset of isolated daytime urinary frequency were evaluated and followed for a period of 12 to 18 months. A thorough medical and family history was obtained for each child, with special attention given to any psychosocial problems the child had experienced. All the children underwent a physical examination, complete urinalysis, and ultrasonography of the kidneys and bladder. RESULTS: In all of the patients, the urinalysis and ultrasonographic findings were within normal limits. A trigger factor was identified as the cause of urinary frequency in each case. CONCLUSIONS: Because urinary frequency is usually a benign self-limited condition, an extensive urological evaluation is not indicated. In most cases, providing reassurance to the parents and the child is the only intervention necessary.

Child↗
PubMed1993

Negative expansion of the myotonic dystrophy unstable sequence.

We have analyzed the unstable fragment of the myotonic dystrophy (DM) gene in a pregnancy at 50% risk for DM. The affected father in this family had a 3.0-kb expansion of the DM unstable region. The fetus inherited the mutated gene, but with an expansion of 0.5 kb. This case represented a counseling problem in light of the absence of data concerning "negative expansion." Analysis of the DM gene in 17 families with 72 affected individuals revealed four more cases of negative expansions, all of them in paternal transmissions. The possible significance of this finding is discussed.

Adult↗
PubMed1992

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.

ABO Blood-Group System↗
PubMed1992

Mumps-associated acute cerebellar ataxia.

During a mumps outbreak between 1987 and 1988, six children presented with symptoms of acute cerebellar involvement as the sole neurologic complication. The neurologic symptoms followed parotitis and lasted for up to 3 weeks. Serologic evidence was suggestive of recent mumps infection. Symptoms spontaneously resolved in all patients without any residual signs or symptoms during 2- to 2.5-year follow-up.

Acute Disease↗
PubMed1992

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome.

Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer. A-T is ethnically widespread and genetically heterogeneous, as indicated by the existence of four complementation groups in this disease. Several "A-T-like" genetic diseases share various clinical and cellular characteristics with A-T. By using linkage analysis to study North American and Turkish A-T families, the ATA (A-T, complementation group A) gene has been mapped to chromosome 11q23. A number of Israeli Arab A-T patients coming from large, highly inbred families were assigned to group A. In one of these families, an additional autosomal recessive disease was identified, characterized by ataxia, hypotonia, microcephaly and bilateral congenital cataracts. In two patients with this syndrome, normal levels of serum immunoglobulins and alpha-fetoprotein, chromosomal stability in peripheral blood lymphocytes and skin fibroblasts, and normal cellular response to treatments with X-rays and the radiomimetic drug neocarzinostatin indicated that this disease does not share, with A-T, any additional features other than ataxia. These tests also showed that another patient in this family, who is also mentally retarded, is affected with both disorders. This conclusion was further supported by linkage analysis with 11q23 markers. Lod scores between A-T and these markers, cumulated over three large Arab families, were significant and confirmed the localization of the ATA gene to 11q23. However, another Druze family unassigned to a specific complementation group, showed several recombinants between A-T and the same markers, leaving the localization of the A-T gene in this family open.

Ataxia↗
PubMed1992

Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature.

A recessively inherited syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles is reported in six members of three related kindreds. Prognathism, synophrys and thick eyebrows added to a typical facial appearance. Additional findings included short stature, borderline head circumference and toe syndactyly. Borderline mental retardation and anosmia were found in one patient. The clinical features and the mode of inheritance distinguish this syndrome from other blepharophimosis and ptosis syndromes.

Adolescent↗
PubMed1992

Transverse myelitis following mumps in children.

Although acute transverse myelitis is a rare complication of mumps, it is relatively well documented. We describe a child who developed mumps associated acute transverse myelitis and who subsequently recovered completely. To our knowledge, only 13 cases have been reported in children. This case is compared with 13 previously reported patients.

Acute Disease↗
PubMed1992

The general intelligence and spatial abilities of gifted young Belgian chess players.

Thirty-three tournament-level young Belgian chess players aged 8 to 13 were tested with the French WISC (Wechsler Intelligence Scale for Children). The mean full scale IQ = 121, verbal IQ = 109 and performance IQ = 129. The results suggest that a high level of general intelligence and of spatial ability are necessary to achieve a high standard of play in chess. The high spatial ability of these young chess players suggested by the high performance IQs may go some way towards explaining why males tend to be more numerous than females among high-standard chess players.

Adolescent↗
PubMed1992

Recurrent parotitis.

Recurrent parotitis in children is a well described but rare condition of unknown cause. The clinical features of 11 children with recurrent parotitis are described.

Anti-Bacterial Agents↗
PubMed1992

Postcircumcision urinary tract infection.

The possible association of urinary tract infection (UTI) with ritual circumcision on the eighth day of life was studied by analyzing the epidemiology of urinary tract infections during the first year of life in 169 children with UTI (56 males and 113 females) born in Israel from 1979 to 1984. Forty-eight percent of the episodes of UTI occurring in males appeared during the 12 days following circumcision, and the increased incidence during that period was highly significant. The median age of the males at the time of the UTI was 16 days, compared with seven months in females. Ritual Jewish circumcision as practiced in Israel may be a predisposing factor for UTI during the 12-day period following that procedure.

Age Factors↗
PubMed1992

Fixed drug eruption of the scrotum due to methylphenidate.

OBJECTIVE: To report two cases of fixed drug eruption induced by methylphenidate. CASE SUMMARY: Two children with attention deficit disorder treated with methylphenidate as a simple drug developed fixed drug eruption of the scrotum. Drug discontinuation was followed by a complete resolution of the skin eruption. Rechallenge resulted in the same drug rash. Macrophage migration-inhibiting factor (MIF) assay with methylphenidate was positive. DISCUSSION: The pathogenesis of fixed drug eruption and the role of MIF assay in the diagnosis of adverse drug reaction is discussed. CONCLUSIONS: Fixed drug rash induced by methylphenidate is a possible but rare phenomenon.

Attention Deficit Disorder with Hyperactivity↗