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Biomedical subjects

J R Eastman

Publications and source records attributed to J R Eastman.

At least 19 recordsLinked to original sources
PubMed1984

Treatment modalities for inherited factor IX deficiency and the implications of inherited bleeding disorders.

Two cases of factor IX deficiency are presented. Therapeutic methods for anticipated abnormal bleeding during dental surgical procedures on these patients are discussed, and two are illustrated. One treatment regimen, plasmapheresis, has not been discussed previously in the dental literature. Epidemiologic data relative to the frequency and type of inherited bleeding diatheses seen by the dental surgeon were obtained from a 2-year retrospective study involving all admissions to the dental service of a regional hospital. These data, in conjunction with the presented cases, illustrate the need for dentists, especially those in the surgical specialties, to be familiar with the inherited bleeding diatheses and their treatment.

Adult↗
PubMed1983

DDAVP: review of indications for its use in the treatment of factor VIII deficiency and report of a case.

Classic hemophilia or factor VIII deficiency is a recessive, sex-linked bleeding diathesis. The primary clinical problem is hemorrhage, which can be severe and often life threatening, even in the presence of only minor trauma. In the past this inadequate hemostasis has been treated with transfusions of cryoprecipitate, fresh frozen plasma, or commercially prepared factor VIII concentrate. Unfortunately, such treatment carries with it a number of risks, including the development of hepatitis B or hemolytic anemia and the formation of anti-factor VIII antibodies. Because of hemorrhage severity and the risks of conventional treatment, elective surgery in general and oral surgery in particular have often been neglected in patients with hemophilia. This article reviews a drug, 1-desamino-8-d-arginine (DDAVP), heretofore not discussed in the dental literature, and reports on its use in conjunction with epsilon-aminocaproic acid (EACA), a synthetic antifibrinolytic agent, in the surgical dental treatment of a patient with hemophilia A. The results suggest that certain dental surgical procedures can be performed in the presence of subclinical and mild hemophilia without conventional factor VIII replacement therapy with its associated costs and risks.

Adult↗
PubMed1983

Inherited factor X deficiency: presentation of a case with etiologic and treatment considerations.

The first documented case of inherited factor X deficiency in the dental literature is presented. Its ascertainment as a result of postoperative surgical complications illustrates the clinician's need to be familiar with the hereditary bleeding diatheses, as treatment is dependent on the underlying etiology of the specific disorder. In the present case treatment included administration of the antifibrinolytic agent epsilon-aminocaproic acid (EACA) and fresh frozen plasma. On the basis of our findings, a minimal therapeutic level of circulating factor X is estimated to be 15 percent of the normal level. Genetic heterogeneity within the factor X deficiency phenotype is discussed and, on the basis of laboratory findings, a CRM-positive autosomal recessive structural or regulator gene defect is proposed as the etiologic factor in the current case. Forty-nine cases in the literature are reviewed to delineate the pattern of bleeding in hereditary factor X deficiency.

Child↗
PubMed1983

Psoriasis. Palatal manifestations and physiologic considerations.

The histologic and clinical criteria for psoriasis involving the palate are discussed. A review of the literature shows the present case to be the fifth well-documented one in the literature. A possible explanation for the rarity of clinical manifestations in the oral cavity is presented.

Adult↗
PubMed1983

Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality.

This article presents detailed clinical and laboratory investigations of six hypophosphatasia kindreds. Serum alkaline phosphatase and urinary phosphoethanolamine comparisons between the affected population and a normal control population demonstrate these parameters routinely identify the heterozygous individual when age and sex variations are accounted for. Using clinical data from the kindred population and a detailed review of the literature, the type and frequency of clinical findings for both the homozygous and heterozygous genotype are enumerated. The clinical and biochemical phenotypes were subjected to segregation analysis. When the results of these analyses are viewed in light of their mathematical limitations and the genetic precepts of autosomal dominant and recessive inheritance, hypophosphatasia is best described as an autosomal dominant disorder with 85% penetrance and homozygous lethality.

Age Factors↗
PubMed1978

Linkage studies in Van der Woude syndrome.

A newly ascertained kindred segregating Van der Woude syndrome through four generations is described. Linkage studies using the methods of Ott (1974) were carried out using 19 marker loci.

Amylases↗
PubMed1978

Linkage analysis in dominant acrocephalosyndactyly.

Linkage analysis was performed on a previously reported family in which multiple dominantly inherited acrocephalosyndactyly syndromes were present. An underlying axiom of linkaged analysis is that the trait analysed be monogenic. This prerequisite was presumptively established in the single kindred analysed because acrocephalosyndactyly was observed in multiple cases in multiple generations.

Acrocephalosyndactylia↗
PubMed1977

Focal odontoblastic dysplasia: dentin dysplasia type III?

A new, nonsyndromic dentin defect, focal odontoblastic dysplasia, is described on the basis of clinical, radiographic, histologic, and scanning electron microscopic criteria. A provisional classification is proposed for this disease entity according to the nosology of Shields and associates. Four additional cases in the literature which possibly represent this new entity are presented, and a possible genetic etiology is discussed.

Adult↗
PubMed1977

Dentin dysplasia, type II: a rare autosomal dominant disorder.

Dentin dysplasia, Type II, is a rare autosomal dominant disorder. The primary teeth are amber and translucent and the pulp chambers are obliterated. The permanent teeth have a normal to brown-gray coloration and a thistle-tube pulp configuration with multiple true denticles. To date, only five families with this disorder have been reported. This article presents two additional families. Light and scanning electron microscopy of an affected primary incisor showed the dentin, including the mantle layer, to be highly disorganized throughout. Possible pathogenic events associated with the phenotype are discussed.

Adolescent↗
PubMed1977

Facio-cardio-renal syndrome: a newly delineated recessive disorder.

A previously undescribed genetic syndrome with multiple congenital malformations is described. The major components include: 1) horseshoe kidneys; 2) severe mental retardation; 3) characteristic facies; and 4) heart defects. Evidence for considering it to be an autosomal recessive syndrome is also discussed.

Abnormalities, Multiple↗
PubMed1977

Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations.

Six of 41 presumed cases of Van Buchem disease described in the literature fit uniform diagnostic criteria. Segregation analysis of these 6 cases, in addition to another the authors report, supports a recessive mode of inheritance. Genetic heterogeneity is confirmed by the demonstration of a dominantly-inherited phenotype resembling Van Buchem disease. The probable etiology is a defect in the endochrondral modulatory step regulating transformation of osteoclast to osteoblast.

Adult↗
PubMed1977

Serum alkaline phosphatase: normal values by sex and age.

We report here the normal range of serum alkaline phophatase activity as measured by the method proposed by Hausamen et al. [Clin. Chim. Acta 15, 241 (1967)] with a much larger sample size than used in previous investigations. In the statistical analysis the sample population is subdivided by sex and age, two variables which are known to influence enzyme activity. No statistically significant influence of blood type on enzyme activity was observed. The normal range of enzyme activity is reported in percentiles.

Adolescent↗