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J D Hoffman

Publications and source records attributed to J D Hoffman.

10 recordsLinked to original sources
PubMed2005

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.

Alström syndrome is an autosomal recessive disorder comprised of progressive vision loss (nystagmus, photophobia, and pigmentary retinopathy), progressive sensorineural hearing loss, morbid obesity, male hypogonadism, insulin resistant diabetes, renal failure, and dilated cardiomyopathy. We report on four sibs with Alström syndrome with intra-familial variability in onset, severity, and spectrum of manifestations; the most serious manifestation being dilated cardiomyopathy. This report emphasizes the difficulty of recognizing this constellation of symptoms as Alström syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression.

Abnormalities, Multiple↗
PubMed2005

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.

BACKGROUND: Kabuki (Niikawa-Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22-p23.1 in 13/13 patients. OBJECTIVE: To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome. METHODS: An 8p duplication was sought using two independent methods--array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)--in 15 patients with a definitive clinical diagnosis of Kabuki syndrome. RESULTS: No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients. CONCLUSIONS: 8p22-p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients.

Abnormalities, Multiple↗
PubMed2001

Escherichia coli O157:H7 in free-ranging deer in Nebraska.

In order to determine the prevalence and distribution of the human pathogen, Escherichia coli O157:H7, in free-ranging deer, hunters were asked to collect and submit fecal samples from deer harvested during a regular firearm season (14-22 November 1998). Prior to the season, 47% of the hunters with permits in the southeastern Nebraska (USA) study area indicated a willingness to participate in the study. Approximately 25% of successful hunters in the area submitted deer fecal samples. Escherichia coli O157:H7 was cultured from four (0.25%) of 1,608 total samples submitted. All of the fecal samples that were properly identified (1,426) and all that were positive for E. coli O157:H7 were from white-tailed deer (Odocoileus virginianus). We were unable to detect a statistically significant geographic distribution pattern of E. coli O157:H7. The presence of E. coli O157:H7 in the feces of free-ranging deer has implications not only for hunters, consumers of venison, and others in contact with deer or deer feces, but also for the development of strategies aimed at reducing and/or controlling this pathogen in water sources and domestic livestock.

Animals↗
PubMed1999

Genetic factors in preterm delivery.

Tens of thousands of children deliver before they are full term each year. Although many social, environmental, and medical risk factors have been suggested, the etiology of a large percentage of preterm labor cases is still unknown. It has been noted for many years that preterm delivery is a condition that runs in families. Evidence concerning its aggregation among families, the recurrent nature of preterm labor, and its differing prevalence between races has led to the suggestion of a genetic cause for preterm delivery. There have been few formal studies to investigate this hypothesis. We suggest that modern molecular biology approaches can reveal the part that genes play in preterm delivery.

Adult↗
PubMed1998

Implications of a novel cryptic splice site in the BRCA1 gene.

This study was designed to determine the significance of a single intronic base change (IVS5-12 G-->A) found in a family with a history of breast cancer. This change is predicted to form a cryptic splice site resulting in the addition of 11 nucleotides to the BRCA1 transcript. The BRCA1 gene of the relatives and control individuals was sequenced and analyzed using RT-PCR, ASO hybridization, and size fractionation. All patients showed an 11 nucleotide insert at the intron 5/exon 6 boundary. This variant is likely to form a short protein product incapable of the hypothesized tumor suppressor functions of the BRCA1 gene. This information is important for providing counseling for families with this cryptic splice site and a family history of breast cancer.

Base Sequence↗
PubMed1994

Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene.

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder of myelin metabolism, resulting from the inability to properly degrade 3-sulfogalactosylceramide (sulfatide). This metabolic block is often due to defective functioning of the lysosomal enzyme arylsulfatase A (ARSA). Unmetabolized sulfatide accumulates in the white matter of the CNS and in the peripheral nerves, leading to progressive demyelination and death. Late infantile, juvenile and adult clinical variants of MLD have been described. A Navajo Indian child was diagnosed with late infantile MLD (LIMLD), and his ARSA gene was amplified in three overlapping regions by the PCR and sequenced. A single mutation was found: a G-->A transition in the first nucleotide of intron 4 (IVS4nt1), which abolishes the 5' splice site consensus sequence. Negligible amounts of ARSA mRNA were observed in Northern blots. However, PCR amplification and sequencing of the ARSA cDNA showed that all of the mRNA species from the patient have exon 4 deleted. A new reading frame is thus established which results in a premature stop codon within exon 5. A minority of transcripts had additional splicing errors. Both parents carry this mutation, and the father also carries the pseudodeficiency (PD) allele. Three additional unrelated Navajo LIMLD patients were found to be homozygous for the same MLD-causing mutation by allele-specific oligonucleotide (ASO) hybridization. This method could be used for carrier and patient identification in this population.

Adult↗
PubMed1991

Use of DHCP to provide essential information for care and management of HIV patients.

The Department of Veterans' Affairs (VA) has reported over 10,000 Acquired Immune Deficiency Syndrome (AIDS) cases since the beginning of the epidemic. These cases were distributed throughout 152 of the VA's network of 172 medical centers and outpatient clinics. This network of health care facilities presents a unique opportunity to provide computer based information systems for clinical care and resource monitoring for these patients. The VA further facilitates such a venture through its commitment to the Decentralized Hospital Computer Program (DHCP). This paper describes a new application within DHCP known as the VA's HIV Registry. This project addresses the need to support clinical information as well as the added need to manage the resources necessary to care for HIV patients.

Databases, Factual↗