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Biomedical subjects

R J Jorgenson

Publications and source records attributed to R J Jorgenson.

At least 55 records · Page 3Linked to original sources
PubMed1980

Clinician's view of hypodontia.

Hypodontia, agenesis of one or more teeth, is a common trait in modern populations and one that is often encountered by the dental practitioner. Specific patterns of the trait suggest its association with extraoral findings and may help to identify the etiology.

Age Factors↗
PubMed1980

Misconceptions about dental treatment for patients with genetic disease.

It is the goal of this conference to define the role of dentistry to the interdisciplinary treatment of genetic diseases. Certainly, with the inclusion of dental disciplines in centers devoted to the diagnosis and treatment of genetic disease, the diagnosis and treatment of secondary craniofacial manifestation and the diagnosis and treatment of genetic disease primary to the craniofacial and oral complex will be greatly accelerated and the many misconceptions about dental treatment for patients with any genetic disease will be significantly reduced.

Dental Care↗
PubMed1980

The role of the dentist in genetic counseling.

Professional and lay attitudes about the role of the dentist in the health sciences is changing perceptibly [16-18]. The view that the activities of the dentist are limited to manipulations of the teeth is being replaced by the view that the dentist is an important member of the health team. To be sure, medical colleagues may still ask why a dentist is in the nursery or elsewhere in the hospital and for the lay public may still ask what genetics has to do with dentistry or vice versa. But "the times, they are a-changing." There is an expanded responsibility for dentists in today's world and a significant part of that responsibility involves the provision of genetic services: diagnosis and counseling. There is no doubt in my mind that the following statement that I make to medical students and colleagues is as true for dentists as for physicians: the failure to provide genetic counseling when it is indicated is malpractice.

Dentist-Patient Relations↗
PubMed1979

Familial occurrence of gastroschisis. Four new cases and review of the literature.

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.

Abdominal Muscles↗
PubMed1978

The Rieger syndrome.

Fourteen patients with hypodontia and the ocular features of the Rieger syndrome were examined for the presence of systemic anomalies. A periumbilical defect that consisted of failure of the periumbilical skin to involute was seen in ten of the thirteen evaluated for the defect. Three others had scars over the umbilical area and had a history of surgery for herniation. In addition, four males in one family and one male from another family had hypospadias. None of several other anomalies reported to be components of the Rieger syndrome by other authors was detected in the fourteen patients. The mode of inheritance in the familial cases studied was compatible with autosomal dominance. The results of this study indicate that the Rieger syndrome is an autosomal dominant syndrome whose cardinal features are hypodontia, goniodysgenesis, and failure of the periumbilical skin to involute properly.

Abnormalities, Multiple↗
PubMed1976

Tay-Sachs disease: a pilot screening program for the detection of the heterozygote in the Charleston Jewish community.

A pilot screening program for the detection of the carrier (heterozygote) of the Tay-Sachs disease (TSD) gene has recently been completed at the Medical University of South Carolina. A fluorometric assay for serum hexosaminidase A and B was performed on the serum of 181 individuals from the Charleston Jewish community. One hundred seventy-six of these individuals were classified as normal based on the percent hexosaminidase A (Hex A) in their serum; five persons were classified as carriers of the Tay-Sachs gene, including a young married couple who were later referred for genetic counseling.

Gene Frequency↗
PubMed1976

Lymphagiomas of the alveolar ridges in neonates.

Blue-domed, fluid-filled lesions on the alveolar ridges of neonates were noted in 3.7% of all normal black newborns examined. None were found in whites. On microscopic examination of eight such lesions, the diagnosis of lymphangioma was made. These lymphangiomas should not be confused with Epstein's pearls, Bohn's nodules, eruption cysts, or mucous retention phenomena. The natural history of such lymphagiomas is unknown. However, spontaneous regression was noted in several cases.

Alveolar Process↗