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Biomedical subjects

M Lerman

Publications and source records attributed to M Lerman.

At least 37 records · Page 2Linked to original sources
PubMed1993

C to T nucleotide substitution in codon 713 of amyloid precursor protein gene not found in 86 unrelated schizophrenics from multiplex families.

Jones et al. Nature Genet 1:306-309, [1992] recently detected a C to T nucleotide transition (codon 713) in a highly conserved region of the beta-amyloid precursor gene in a single case of schizophrenia. Although the sequence variant may be a natural polymorphism, it is crucial to determine whether the mutation might be present in a small subset of schizophrenics. We isolated DNA from 86 unrelated chronic schizophrenics who had a first degree relative with chronic schizophrenia or chronic schizoaffective disorder. After PCR amplification of exon 17, we were unable to detect the presence of the codon 713 variant in these schizophrenic cases, as well as in 156 controls. Unless additional cases are found with the codon 713 mutation, it is unlikely that the sequence variant is pathogenic for schizophrenia.

Amyloid beta-Protein Precursor↗
PubMed1993

Physical mapping of chromosome 3p25-p26 by fluorescence in situ hybridisation (FISH).

As part of our effort to isolate and characterise the von Hippel-Lindau (VHL) disease gene, we constructed a physical map of chromosome 3p25-26 by fluorescence in situ hybridisation (FISH) studies on a panel of cytogenetic rearrangements involving this region. Biotinylated cosmid and lambda probes were hybridised to metaphase chromosome spreads and positioned with respect to each cytogenetic breakpoint. These studies unequivocally established the order of five loci linked to the VHL disease gene: cen-(RAF1,312)-D3S732-D3S1250-D3S601-D3S18 -pter and determined the position of three other probes within this map. These results ordered RAF1 and D3S732 for the first time, confirmed the localisation of D3S1250 between RAF1 and D3S601 and determined the position of D3S651 with respect to other chromosome 3p25-p26 loci. The establishment of an ordered set of cytogenetic aberrations will enable the rapid assignment of polymorphic and nonpolymorphic cloned sequences within the chromosome region 3p25-p26.

Cell Line, Transformed↗
PubMed1992

Chromosome 3p deletions in head and neck carcinomas: statistical ascertainment of allelic loss.

Loss of function of tumor suppressor genes is important in the origin and progression of common adult tumors. Loss of heterozygosity indicating allelic loss has been used to detect chromosomal regions that harbor these genes. Using over 20 restriction fragment length polymorphism markers spaced throughout the entire length of chromosome 3p, we have generated 3p allelotypes for 18-26 head and neck squamous cell carcinoma cell lines. We then estimated the average heterozygosity over 19 loci for a random sample drawn from natural populations to be 7.80 and that for the tumor lines to be 1.65, indicating a gross reduction of heterozygosity, presumably due to allelic loss. Further comparison of per locus heterozygosity in normal and tumor DNAs showed which loci contributed to the general loss of heterozygosity. We showed that the commonly deleted region of 3p probably lies telomeric to D3S3 (3p14) and centromeric to RAF1 (3p25). This large region includes several putative tumor suppressor genes involved in multiple common tumor types of lung, breast, kidney, ovary, and cervix. The data demonstrate that chromosome 3p allelic loss is a common event in head and neck cancers and suggest that chromosome 3p tumor suppressor genes contribute to the pathogenesis of these tumors.

Alleles↗
PubMed1991

Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.

Genetic linkage studies were performed in 22 families with von Hippel-Lindau (VHL) disease by using polymorphic DNA markers from distal chromosome 3p. Linkage was detected between VHL disease and the markers D3S18 (Zmax = 6.6 at theta = 0.0, confidence interval (CI) 0.00-0.06), RAF1 (Zmax = 5.9 at theta = 0.06, CI 0.01-0.16), and THRB (Zmax 3.4 at theta = 0.11). Multipoint linkage analysis localized the VHL disease gene within a small region (approximately 8 cM) of 3p25-p26 between RAF1 and (D3S191, D3S225) and close to the D3S18 locus. There was no evidence of locus heterogeneity, and families with and without pheochromocytoma showed linkage to D3S18. The identification of DNA markers flanking the VHL disease gene allows reliable presymptomatic and prenatal diagnosis to be offered to informative families.

Adrenal Gland Neoplasms↗
PubMed1990

The prognosis of convulsions during childhood shigellosis.

We examined the long-term outcome in 111 children who had convulsions during shigellosis and were followed for 3-18 years after the incident. No deaths or persistent motor deficits occurred as sequellae. Poor coordination of fine hand movements were noted in 3.3% of the 92 children who had no pre-existing neurological abnormality. Only 1 child developed epilepsy by the age of 8 years. Of the children 15.7% had recurrent febrile seizures. The only risk factor identified for febrile seizures following convulsions in shigellosis was a previous history (P less than 0.01). These observations suggest that convulsions in shigellosis have a favourable prognosis, and do not necessitate long-term follow up.

Child↗
PubMed1989

Predicting receipt of social support: a longitudinal study of parents' reactions to their child's illness.

A sample of 101 women whose children required medical attention were interviewed at the time of initial hospital contact and again 1 year later. On the second occasion, their spouses were also interviewed for their assessment of their wives' personal and social characteristics. Greater personal resources, more intimate relations, and lower discomfort in seeking support were related to greater receipt of social support 1 year later. Chronic stress conditions were found, however, to diminish the effect of individuals' social characteristics on receipt of support. Spouses assessments showed moderate agreement with that of their wives, lending support to the validity of the findings. Implications for interventions in health-care settings were discussed.

Adaptation, Psychological↗
PubMed1988

Personal relationships, personal attributes, and stress resistance: mothers' reactions to their child's illness.

The contribution to emotional distress of mastery, intimacy, received social support, and discomfort in seeking support was examined over a year period among 107 Israeli mothers of well, acutely ill, or chronically ill children. The following was found: (a) Women initially high in mastery experienced less psychological distress and benefited more from social support than did women low in mastery. (b) The greater social support women generally received the lower their psychological distress. (c) Independent of the level of generally received support, women who experienced greater distress received greater social support at the time of crisis. (d) Intimacy with spouse was related to better stress resistance, but the opposite was found for intimacy with family. (e) Women who felt uncomfortable seeking support were more distressed at the time of initial crisis than women who were more comfortable seeking support and became less intimate with significant others.

Adult↗
PubMed1986

Anxiety reaction of hospitalized children.

This study suggests that the child's emotional reaction to hospitalization is determined by personal, interpersonal and environmental factors. The personal attribute investigated was the child's predisposition to experience anxiety, namely, trait anxiety. The interpersonal influence was the perceived level of maternal anxiety, and the environmental influence was type of hospitalization--traditional hospital or day clinic. We hypothesized that hospitalized children with high trait anxiety would experience higher anxiety state than children with low trait anxiety; hospitalized children who perceive anxious rather than calm mothers would experience more anxiety; children in a traditional hospital would experience higher anxiety state than children in a day clinic; and the most anxious children would be those who have high trait anxiety, are exposed to anxious mothers and are hospitalized in a traditional hospital. Results indicate that the child's level of trait anxiety predicted the level of experienced anxiety and so did perceived maternal anxiety. Type of hospitalization did not influence the level of anxiety, but children with high trait anxiety who attributed to their mothers a high level of anxiety reported more anxiety in the day clinic rather than in the hospital. The findings imply that, when helping children and families deal with hospitalization, personal, interpersonal and environmental factors have to be considered.

Anxiety↗
PubMed1983

Psychogenic cough.

Psychogenic cough is croupy and explosive, never occurs during sleep, and is not affected by antitussive drugs. Physical and radiographic examinations of the respiratory tract and microbiological investigations are normal. Bronchial asthma manifested as chronic cough should be excluded in each patient by lung function testing.

Adolescent↗
PubMed1980

Effect of 1,25-(OH)2D3 on jejunal absorption of magnesium in patients with chronic renal disease.

These studies were performed to see if jejunal malabsorption of magnesium in patients with chronic renal disease was influenced by therapy with 1 alpha, 25-dihydroxyvitamin D3 [1,25-(OH)2D3; 2 microgram/day by mouth for 7 days]. This treatment restored normal serum concentrations of the vitamin D metabolite from 0.9 +/- 0.2 to 4.2 +/- 0.6 ng/dl. Jejunal absorption of magnesium, measured by a triple-lumen constant-perfusion technique, was enhanced in each of the seven patients by this therapy. The mean value rose from 0.04 +/- 0.02 to 0.13 +/- 0.02 mmol . 30 cm-1 . h-1. This last value is similar to the magnesium absorption rate in untreated normal subjects. These results demonstrate that magnesium absorption in the human jejunum is dependent on vitamin D, and they show that 1 alpha,25-dihydroxyvitamin D3 therapy in patients with chronic renal failure is associated with an enhanced jejunal absorption of magnesium.

Adult↗