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Biomedical subjects

N J Burzynski

Publications and source records attributed to N J Burzynski.

At least 19 recordsLinked to original sources

Squamous cell carcinoma of the upper aerodigestive tract in patients 40 years of age and younger.

Oral squamous cell carcinoma in patients 40 years of age and younger has been noted to be infrequent. The incidence is not as noticeable because the majority of oral cancers are diagnosed during the later decades of life. This study was undertaken to evaluate the incidence, site predilection, etiologic factors, and modes of treatment and to compare these results with available data on this topic. Of 1387 cases of oral and pharyngeal squamous cell carcinoma diagnosed from 1968 to 1989 at University Hospital and affiliated institutions, 28 occurred in patients under 40 years of age. When these lesions were staged according to the American Joint Committee for Cancer Staging, we found 6 stage I lesions, 3 stage II, 2 stage III, and 11 stage IV. Six lesions could not be staged from information available in the patient records. Present data corroborate the national average of 1% to 3% of cases of oral squamous cell carcinoma found within the 40 and under age group.

Adult

Classification and genetics of numeric anomalies of dentition.

A suggested classification of numeric anomalies of teeth is a trimodal classification: anodontia, hypodontia, and hyperdontia. A subclassification into nonsyndromic and syndromic cases would allow for uniform analysis. The limited data on anodontia and hyperdontia have made the genetic analysis of these anomalies difficult. The most suitable data for analysis on the genetics of numeric anomalies of dentition are on hypodontia. A reevaluation of this data, as presented in this report, suggests hypodontia follows an autosomal dominant mode of inheritance. However, the fact that penetrance is not complete suggests the presence of a mechanism whereby epistatic genes interfere with the phenotypic expression of the hypodontia gene. How this occurs is uncertain, but the available evidence suggests a major single gene defect, which is modified by genetic or environmental factors.

Anodontia

The CASE system for cancer education.

A Computer-Assisted-Self-Evaluation (CASE) program in oncology is described. The program is based on motivation by immediate, informative feedback, and involves the computer-guided interaction of a student with a series of microfiche cards. The computer leads the student through a series of 16 questions and associated explanations and recommendations based on the answer choices. Since all textual materials are placed on microfiche cards, the computer is only required to print simple, prearranged sentences and comments. As a result four students, using different CASE topics, can time-share the same computer terminal. This time-sharing capability, together with the large but compact, low cost information storage afforded by the use of microfiche, makes the cost of this system comparable to that of conventional study aids. The use of the CASE system as an educational aid and self-tutoring mechanism has been well accepted by faculty and students.

Attitude

The ultrastructure of oral neuromas in multiple mucosal neuromas, pheochromocytoma, medullary thyroid carcinoma syndrome.

The ultrastructure of oral neuromas from 2 patients with multiple mucosal neuromas, pheochromocytoma, medullary thyroid carcinoma syndrome reveals numerous hypertrophic unmyelinated and myelinated axons, hyperplastic neurilemmal cells and associated collagen fiber formation. These tumors are described and compared ultrastructurally with neurilemmomas and neurofibromas as described by other authors. On the basis of this comparison, these tumors are not considered to be of neurilemmal origin. On the basis of light and electron microscopic histology it is postulated that these tumors represent hypertrophy of axons similar to that noted in amputation neuromas.

Adolescent

Oral-facial-digital syndrome. A family case report.

A familial case report of oral-facial-digital I syndrome affecting three generations is presented. The pedigree analysis substantiates that this syndrome is lethal for the male. The abnormal physical findings in the affected persons were predominantly associated with the oral structures. The need for early identification and diagnosis is imperative in the management of the affected females. This approach assists in the control of serious dental complications and allows for a professional overview of the growth and development of facial form. Also, supportive counseling acts as an aid in the control of emotional disturbances that can be associated with physical form and function. Since this syndrome is transmitted as an X-linked dominant affecting females, genetic counseling becomes a necessity in the care and management of the family and affected patients.

Abnormalities, Multiple

Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings.

Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.

Abnormalities, Multiple

Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3.

1. Three members of a kindred and a fourth unrelated individual demonstrating the syndrome of mucosal neuroma, bumpy lips, marfanoid habitus, medullary thyroid carcinoma and pheochromocytoma are reported, and the literature pertaining to this syndrome has been reviewed. 2. There are currently 41 definite and 16 additional probable reported cases manifesting the syndrome of mucosal neuroma, bumpy lips, pheochromocytoma and medullary thyroid carcinoma. Mucosal neuroma was present in all patients. Medullary thyroid carcinoma was histologically proved in 38 cases. Pheochromocytoma was documented in 19 patients with a probable diagnois in another 4 patients. Only one patient was noted to have hypercalcemia associated with parathyroid adenoma. Associated abnormalities seen in this syndrome include hypertrophied corneal nerves, skeletal defects and gastrointestinal tract abnormalities. 3. The relationship of this syndrome to other types of multiple endocrine neoplasia syndromes and the phakomatoses is also discussed. This syndrome appears to be distinct from the entity of multiple endocrine neoplasia type 2. We suggest that this syndrome be called multiple endocrine neoplasia type 3, following the classification originally proposed by Steiner et al. 4. MEN type 3 appears to be inherited as an autosomal dominant disorder. Many apparently non-familial cases have been reported, but due to inadequate information regarding family history it may be possible that some of these cases also had other affected family members. 5. This syndrome most likely results from a dysplasia of neuroectodermal tissue. The pathogenesis of this syndrome is discussed and evidence supporting the hypothesis is reviewed. 6. The importance of diagnosing the syndrome at an early stage and of investigating the relatives of a patient manifesting this potentially fatal syndrome are stressed. 7. Plasma calcitonin measurement following calcium infusion is extremely useful as a screening procedure for the diagnosis of medullary thyroid carcinoma, when the patients are completely asymptomatic and routine thyroid function tests are normal. Affected individuals should also be periodically screened for the development of pheochromocytoma.

Adolescent