Biomedical subjects
J B Graham
Publications and source records attributed to J B Graham.
AccI polymorphism in von Willebrand factor (F8VWF) at codon 516.
Explore the source record for details and available documents.
Population genetics of the Malmö polymorphism of coagulation factor IX.
The distribution of 1,198 Malmö alleles was examined in 822 men from 16 indigenous populations and 188 women from 7 of the ethnic groups. Subjects were from several European countries, the Mediterranean, East Asia, and the USA (Anglo- and African-Americans). The frequencies of the rarer (Malmö B) allele were approximately equal across Europe, the highest frequencies (0.36) being in the French and Anglo-Americans; no population was observed with clearly the highest frequency. They diminished slightly at moderate distances from Europe (Tunisia, Ethiopia) and greatly at longer distances (East Asia and West Africa). In Orientals, the frequencies ranged from 0.07 (East Indians) to 0.03 (the Chinese) and from 0.0 to 0.15 in African-Americans. Assuming selective neutrality, the data are consistent with the European origin of the 'B' allele when the population was small and outward spread.
The varying frequencies of five DNA polymorphisms of X-linked coagulant factor IX in eight ethnic groups.
Five RFLPS of X-linked coagulation factor IX were evaluated in more than 500 normal persons (723-804 X chromosomes) of both sexes who belonged to eight ethnic groups: Anglo-Americans, Basques, Swedes, African-Americans, East Africans, East Indians, Chinese, and Malays. The polymorphisms, 5' to 3', were BamHI, XmnI, TaqI, MnlI, and HhaI. A PCR procedure was developed for three previously described RFLPs-XmnI, TaqI, and MnlI; a PCRP procedure was developed for BamHI, and a PCRP which had been described by others was used for HhaI. Europeans were the most polymorphic, African-Americans and East Africans were intermediate, and Orientals were the least polymorphic. Extragenic 3' HhaI was highly polymorphic in most groups, and extragenic 5' BamHI was polymorphic only in persons with African ancestry. Two major haplotypes predominated among 247 men, and the expected and observed heterozygosities were concordant among women. Allelic association was very strong between the three intragenic PCRPs; it was present but weak between 5' extragenic BamHI and XmnI. No association was found between 3' extragenic HhaI and MnlI.
Alien corn in the "Big Apple". Part I.
Explore the source record for details and available documents.
A genetic study of familial hypophosphatemia and vitamin D resistant rickets with a review of the literature. 1958.
Explore the source record for details and available documents.
The halcyon days of youth, Part II. The second year at the "new" UNC Medical School.
Explore the source record for details and available documents.
RsaI polymorphism in von Willebrand factor (vWF) at codon 789.
Explore the source record for details and available documents.
The utility of a HindIII polymorphism of factor VIII examined by rapid DNA analysis.
A previously described HindIII restriction fragment length polymorphism (RFLP) of factor VIII (FVIII) has its polymorphic site in the unsequenced nineteenth intron. We have located the polymorphic site, as well as an invariant site, by amplifying and sequencing IVS 19 using the polymerase chain reaction (PCR). The oligonucleotide primers were synthesized from known FVIII sequence on either side of the 19-20 splice junction. The amplified product was cloned into a plasmid and sequenced by the dideoxy chain termination method. The polymorphic HindIII site was 103 bp and the invariant site 184 bp from the 3' end of the nineteenth exon. The frequency of the polymorphism was determined in 457 subjects (643 chromosomes) of seven ethnic groups on whom frequency of the BclI RFLP of IVS 18 was also assessed. The HindIII site is highly polymorphic in all groups, approximately 0.25:0.75, the expected heterozygosity averaging 37.6%, and the observed number of heterozygotes did not differ significantly from expectation. The (+):(-) allelic ratio is similar in all groups, except African-Americans in whom it is reversed. Strong allelic association (linkage disequilibrium) is present between the HindIII polymorphism of IVS 19 and the BclI polymorphism of IVS 18.
The halcyon days of youth. Memories of the "old" UNC School of Medicine.
Explore the source record for details and available documents.
Evolution of methods for carrier detection in hemophilia.
Explore the source record for details and available documents.
Lithotripsy for bile duct stones.
Fragmentation of bile duct stones by mechanical, electrohydraulic, and laser intraluminal lithotripsy has greatly facilitated the ability to remove stones that are otherwise difficult to remove by standard manipulative techniques. Even these approaches fail when stones lack access or are impacted within the biliary tree. Extracorporeal shock-wave lithotripsy (ESWL) was evaluated in the United States in a multicenter trial with 56 patients. Stone fragmentation occurred in 91 percent of patients and duct clearance in 79 percent. Adjunctive procedures were used in 54 percent. Two ESWL treatments were required for fragmentation in 28 percent. Complications were mild and relatively infrequent. Hemobilia (8 percent), gross hematuria (6 percent), and biliary sepsis (4 percent) occurred less frequently than expected. There were no deaths during the 1 to 31 days of hospitalization (mean 9 days). We conclude that ESWL is a safe and effective adjunct to the treatment of difficult-to-remove bile duct stones under the conditions observed in this trial.
Hemophilia: state of the art of hematologic care 1988.
Since 1982, when the World Federation of Hemophilia first published a document on the state of the art of hemophilia diagnosis and care, there have been lights and shadows in this field. Although the widespread infection of hemophiliacs with the human immunodeficiency virus (HIV) contaminating clotting factor concentrates is still a threatening and formidable shadow, the gloomy picture brought about by the AIDS epidemic is partially lightened by spectacular improvements in therapy and diagnosis. Carrier detection and first-trimester prenatal diagnosis can now be performed accurately in most kindreds by analysis of DNA of the factor VIII or IX genes. An important step forward towards the elimination of the risk of blood-borne infections transmitted by plasma products was recently made through the application of virucidal methods to clotting factor concentrates. Since HIV appears more vulnerable to such methods than the hepatitis viruses, currently available concentrates can be considered substantially free from the risk of transmitting HIV infection. Even though transmission of hepatitis is much reduced but not totally abolished, virucidal methods are continuously being improved, so that it can be foreseen that concentrates will become safer and safer. Finally, factor VIII produced by recombinant DNA technology is undergoing the first clinical trials in hemophiliacs. Hopefully, it will free from the risk of transmitting infections and will be available in sufficiently large amounts to meet the need of hemophiliacs worldwide. In 1982, the World Federation of Hemophilia published a message on the status of diagnosis and treatment of hemophilia. Since then, hemophilia care has been complicated by widespread infection of hemophiliacs with human immunodeficiency virus (HIV).(ABSTRACT TRUNCATED AT 250 WORDS)
The Malmö polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA.
A DNA polymorphism in the coding region of coagulation factor IX--potentially valuable for carrier detection, prenatal diagnosis, and population studies--was described in 1985. It had been discovered with monoclonal antibodies that distinguish between threonine and alanine as the 148th residue of the peptide. Its use as a diagnostic tool has been limited because threonine-containing factor IX (Malmö A) is dominant to alanine-containing factor IX (Malmö B) in immunoassays of plasma; therefore, detection of Malmö heterozygotes is not possible in all instances. A DNA method for recognizing all heterozygotes has been developed, but it also has limitations. We report the development of another DNA procedure based on amplification of the relevant DNA with the polymerase chain reaction (PCR). This method is quick, avoids the use of isotopes and x-ray film, and specifically identifies all the Malmö genotypes: hemizygotes, homozygotes, and heterozygotes. The procedure can be performed satisfactorily on small samples of blood (less than 1 mL) as suggested by Kogan et al (N Engl J Med 317:985, 1987). The method described is applicable to any genetic polymorphism that overlaps a restriction enzyme recognition site.
CHD, MI, & I. The story of a 57-year love-hate relationship.
Explore the source record for details and available documents.
Branchial blood flow distribution in the blue shark (Prionace glauca) and the leopard shark (Triakis semifasciata).
Electromagnetic flow (EMF) quantification of total cardiac stroke flow is not feasible for most elasmobranchs because the vascular anatomy precludes probe placement adjacent to the heart and proximal to all afferent branchial arteries (aba). Most previous studies report a fractional cardiac flow, made with the EMF probe placed on the ventral aorta between the innominate arteries and aba 3. Estimation of total cardiac stroke flow from such data requires a flow correction factor obtained by sacrificing the fish, and carrying out a two step in situ/in vitro flow calibration procedure which is based on tenuous assumptions. Ventral aortic blood flow measurements using the EMF techniques were carried out on large blue sharks, and radiographic imaging studies of ventral aortic and branchial blood flow were done on leopard sharks to verify previously estimated fractional cardiac stroke flow correction factors. The innominate flow fraction determined for both species in these studies are similar and agree with previous estimates for elasmobranchs. EMF data for Prionace show 38% of cardiac stroke flow goes to the innominate arteries, 23% into aba 3, 12% into aba 4, and 27% into aba 5. Radiographic analyses with Triakis reveal that 32% of its cardiac stroke volume flows into the innominate arteries which is in agreement with the in situ/in vitro fractional flow estimate (33%).
Metabolic rate, heart rate, and tailbeat frequency during sustained swimming in the leopard shark Triakis semifasciata.
Heart rate, metabolic rate, and tailbeat frequency were simultaneously recorded from seven leopard sharks (Triakis semifasciata) during steady swimming at controlled speeds to evaluate the usefulness of heart rate as a measure of field metabolic rate. Heart rate was monitored by acoustic telemetry using a frequency modulated ECG transmitter. Metabolic rate was measured as oxygen consumption in a swimming tunnel respirometer. For instrumented sharks, mean resting oxygen consumption rate and heart rate were 105.3 +/- 35.6 (SE) mg O2.kg-1.h-1 and 36.6 +/- 1.8 (SE) beats.min-1, respectively. While swimming at the maximum sustained speed (0.84 +/- 0.03 lengths.s-1) for 30-60 min, these rates were 229.3 +/- 13.2 mg O2.kg-1.h-1 and 46.9 +/- 0.9 beats.min-1. Although a significant linear regression was obtained between metabolic rate and heart rate, a low overall correlation coefficient may result from the existence of separate individual regressions and confounding changes in stroke volume and/or arteriovenous oxygen difference. Heart rate was approximately as closely correlated with oxygen consumption rate as swimming speed was. A significant linear relationship was obtained between tailbeat frequency and swimming speed to speeds of 0.75 lengths.s-1.