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E Starr

Publications and source records attributed to E Starr.

14 recordsLinked to original sources
PubMed2001

A family genetic study of autism associated with profound mental retardation.

We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.

Adolescent↗
PubMed2000

Variable expression of the autism broader phenotype: findings from extended pedigrees.

Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed.

Autistic Disorder↗
PubMed1998

Anticholinergic poisoning with adulterated intranasal cocaine.

In recent years, emergency physicians have encountered a growing number of patients who present with anticholinergic toxicity after using adulterated heroin. Anticholinergic poisoning caused by adulterated cocaine is far less common. This report describes the case of a 39-year-old man who arrived in the emergency department several hours after the nasal insufflation of cocaine. Classic symptoms of anticholinergic toxicity were evident on examination, including dry, flushed skin, agitation, tachycardia, mydriasis, and absence of bowel sounds. Treatment included intravenous fluids and lorazepam, with resolution of symptoms over several hours. Urine samples revealed the presence of cocaine metabolites as well as the anticholinergic drug atropine, and infrequently encountered adulterant of cocaine. Anticholinergic poisoning is reviewed, and the physical examination findings that distinguish this syndrome from the closely related sympathomimetic syndrome typical of cocaine are detailed. Current treatment recommendations for anticholinergic poisoning are summarized.

Administration, Intranasal↗
PubMed1995

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

We have analysed the CAG repeat in the Huntington disease (HD) gene in sperm and blood from 20 unrelated HD patients. Although the CAG repeat displayed significant mosaicism in sperm from all individuals, there were marked differences in the degree of repeat instability. Individuals who had either inherited or transmitted an expanded CAG repeat displayed the highest levels of repeat mosaicism, whereas individuals who had inherited or transmitted a contracted repeat had very limited CAG mosaicism in sperm. A strong association between intergenerational change in CAG allele size and the level of sperm repeat mosaicism was determined (P = 0.019). In contrast, neither blood CAG size nor repeat mosaicism in blood, were significantly associated with intergenerational CAG changes. These data suggest the presence of a cis-acting factor, separate from CAG size, that strongly influences the intergenerational behaviour of the CAG repeat. Additional studies are needed to determine whether analysis of CAG mosaicism in sperm is useful for assessing an individual's risk for transmitting large expansions or contractions to his offspring.

Adolescent↗
PubMed1993

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease.

Huntington's disease (HD) is a late-onset autosomal dominant neuropsychiatric disorder presenting in mid-adult life with personality disturbance and involuntary movements, cognitive and affective disturbance, and inexorable progression to death. The underlying genetic defect has been mapped to chromosomal band 4p16.3 (refs 2, 3). Analysis of specific recombination events in some families with HD has further refined the location of the HD defect to a 2.2 megabase DNA interval. Using a direct complementary DNA selection strategy we have identified at least seven transcriptional units within the minimal region believed to contain the HD gene. Screening with one of the cDNA clones identified an Alu insertion in genomic DNA from two persons with HD which showed complete cosegregation with the disease in these families but was not found in 1,000 control chromosomes. Two genes including the previously identified alpha-adducin gene and another that encodes for a 12-kilobase transcript, map in close proximity to the Alu insertion site. The 12-kilobase transcript should be regarded as a strong candidate for the HD gene.

Base Sequence↗
PubMed1993

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.

Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259 unrelated families and found a highly significant correlation (r = 0.70, p = 10(-7)) between the age of onset and the repeat length, which accounts for approximately 50% of the variation in the age of onset. Significant associations were also found between repeat length and age of death and onset of other clinical features. Sib pair and parent-child analysis revealed that the CAG repeat demonstrates only mild instability. Affected HD siblings had significant correlations for trinucleotide expansion (r = 0.66, p < 0.001) which was not apparent for affected parent-child pairs.

Adolescent↗
PubMed1993

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential events underlying HD. We show the existence of an intermediate allele (IA) in parental alleles of 30-38 CAG repeats in the HD gene which is greater than usually seen in the general population but below the range seen in patients with HD. These IAs are meiotically unstable and in the sporadic cases, expand to the full mutation associated with the phenotype of HD. This expansion has been shown to occur only during transmission through the male germline and is associated with advanced paternal age. These findings suggest that new mutations for HD are more frequent than prior estimates and indicate a previously unrecognized risk of inheriting HD to siblings of sporadic cases of HD and their children.

Adult↗
PubMed1991

Characterization of spleen colonies derived from mice with mutations at the W locus.

Mice with mutations at the W locus have a hemopoietic stem cell defect characterized by an apparent deficiency of spleen colony forming cells (CFU-S). In the present report, we provide evidence that mutant cells form colonies and we compare the characteristics of the colonies derived from mutant and normal cells. To perform the colony-derivation studies, marrow cells were transferred into lethally irradiated congenic hosts that differed from the donors in the ubiquitous genetic marker, glucose phosphate isomerase (GPI-1). Donor GPI-1 comprised over 50% of the marker in the host spleen and marrow by 12 days post injection, regardless of whether the donor was mutant or normal. To characterize the colonies, serially sectioned host spleens were examined microscopically. Colonies are present by 8 days post-transplantation regardless of donor genotype, but mutant colonies are distinctly different from normal colonies. The proportion of blast and granulocyte colonies is always greater in W/Wv than in +/+ recipients. Unlike the W/Wv donors, the +/+ donors generate primarily erythrocyte colonies at 8, 10, and 14 days and mixed colonies at 12 days post-injection. Colonies from the mutant mice are generally smaller but visible colonies do appear by 12 days. The results are consistent with the notion that the anemia in W/Wv mice is caused by the early restriction of differentiating cells to a non-erythrocyte lineage accompanied by the delayed amplification of mutant hemopoietic cells. Whether this means erythrocyte-committed cells are absent or are present but unable to respond to the appropriate cytokines is not possible to determine from the current experiments.

Animals↗
PubMed1989

Hemopoietic stem cells in murine embryonic yolk sac and peripheral blood.

Disaggregated embryonic yolk sac cells and circulating peripheral blood cells were obtained from normal murine day 9 embryos, prior to the formation of the fetal liver. These cells were microinjected transplacentally into days 11-15 W mutant anemic fetuses, when the fetal liver was the major hemopoietic organ. In a small proportion of the recipient animals examined after birth, long-term repopulation by the embryonic donor hemopoietic cells was observed. The donor hemopoietic stem cells proliferated and differentiated in the hosts as evidenced by the presence of donor hemoglobins in the growing recipient host animals. Some mothers of the pups were also repopulated by the donor stem cells. These results provide direct evidence that, during early murine embryogenesis, there are functional hemopoietic stem cells which are capable of colonizing the adult hemopoietic organs and probably the fetal liver and spleen to initiate hemopoiesis in these tissues.

Animals↗
PubMedDate not supplied

Comparison of AMS-Vitek, MicroScan, and Autobac Series II for the identification of gram-negative bacilli.

Identification of Gram-negative bacilli by AMS-Vitek, MicroScan, and Autobac Series II was evaluated with 434 clinical isolates comprising glucose fermenters and glucose nonfermenters. The organisms were tested in each of the three systems (the AMS Vitek GNI card, the MicroScan Combo Plus Panel, and the Autobac 18 chamber cuvette). API 20E was used as the primary reference system. MicroScan and Vitek correctly identified 96.1% and 95.6% of the organisms, respectively. The Autobac Series II identified 82.3% of the organisms correctly. Results with MicroScan, Vitek, and Autobac were available in 24-48 hours, 4-18 hours, and 3-8 hours, respectively.

Bacterial Typing Techniques↗
PubMedDate not supplied

[Association of low 50 g glucose screening test in pregnancy and fetal retardation].

BACKGROUND: The connection between elevated blood sugar and macrosomia is sufficiently well known and studied. The following study, however, examines whether patients with lower blood sugar values--based on the result of the 50 g-glucose screening test--delivered smaller children than patients with normal blood sugar based on the current criteria of blood sugar levels. PATIENTS RESPECTIVELY AND METHODS: In this study, all patients were included who visited our Prenatal Counseling Center between September 21, 1994 and July 31, 1996. Not included were patients with one-hour values greater or equal to 140 mg/dl. For assessing the 50 g-screening tests, percentiles were used. Based on the tables of Voigt, children below the 10th percentile were considered to be growth retarded. The student's t-test and chi-square test were employed as statistical tests. RESULTS: Of the 1416 participating patients in the study, 868 fulfilled the aforementioned criteria. A significant statistical correlation was shown between the development of fetal retardation and nicotine consumption, weight gain, and maternal height. It was also shown that patients with a lower (< 93 mg/dl) 50 g-screening test more often delivered a retarded child than patients with a normal value (23% vs. 12%, p = 0.034). No significant connection was found between the screening test groups and the described influencing factors. The clinical outcome, measured by the Apgar-scores and the transferal rate, was statistically significantly worse with the retarded children. CONCLUSIONS: The maternal glucose metabolism influences the fetal growth not only with respect to macrosomia but also growth retardation. The growth curves that have been used until now wrongly do not take into consideration the maternal anthropometric data. In light of this, the former ought to be re-evaluated. The data of this study emphasize the necessity of need-adapted nutrition. Maybe also pregnant women with a growth retarded child need a dietary consultation.

Adult↗