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Biomedical subjects

E Dunn

Publications and source records attributed to E Dunn.

At least 19 recordsLinked to original sources

Study of color vision in fragile X syndrome.

Various theories have been postulated to account for the unusual inheritance pattern observed in the fragile X syndrome. The recent finding of a secondary amplification of the fragile X mutation in the offspring of carrier females [Oberle et al., 1991; Yu et al., 1991] is consistent with a maternal imprinting process. Laird [1987] has proposed that the fragile X mutation blocks complete reactivation of a previously inactivated fragile X chromosome. We have tested whether or not such a localized block extends as far distal as the red/green color-vision complex at Xq28. We found no evidence of color-vision defects among 25 male subjects with the fragile X syndrome. A fragile X positive woman also had normal color vision, despite being an obligate carrier of her father's gene for red/green color blindness. We conclude that the fragile X gene does not affect the function of neighboring color-vision genes, nor does it affect their ability to compensate adequately for inherited color deficiency on the homologous X chromosome in females.

Adolescent

How much monitoring is needed for basilar skull fractures?

Basilar skull fractures account for approximately 19% of all skull fractures. There have been little data published concerning the need for intensive care monitoring in this injury. We retrospectively studied 259 patients admitted to our trauma center over an 8-year period with a diagnosis of basilar skull fracture. All patients were evaluated with cranial computed tomographic (CT) scans. These patients were admitted to the trauma service, and neurosurgical consultation was obtained in all cases. The diagnosis was made by clinical signs in 207 patients (80%), by CT scan in 47 (18%), and by plain films in 5 (2%). Ninety-two patients (group I) had intracranial pathology in addition to basilar skull fracture. Twenty-one patients in this group underwent craniotomy. In this group, the morbidity and mortality rates were 11% and 7%, respectively. Forty-four patients (group II) had no intracranial pathology and a Glasgow Coma Score (GCS) of less than 13. The morbidity was 2%, and the mortality was 2%. One hundred twenty-three patients (group III) had no intracranial pathology on CT scan and a GCS of 13 or greater. The complication rate in this group was 1%, and there was no neurologically related mortality. Patients who are admitted with a diagnosis of basilar skull fracture and who have a GCS of 13 or greater with no intracranial pathology on CT can be managed without intensive care monitoring.

Adolescent

Nucleotide sequence and coding strategy of the Uukuniemi virus L RNA segment.

The complete nucleotide sequence of the L RNA segment of Uukuniemi virus has been determined from cloned cDNA. The L RNA is 6423 nucleotides in length, and is of negative polarity. The viral-complementary RNA contains a single large open reading frame of 2104 codons which corresponds to the L protein (M(r) 241039). Comparison with the L protein sequences of other members of the Bunyaviridae showed homology with the Rift Valley fever phlebovirus L protein (38% amino acid identity), but no detectable similarity with bunyavirus, hantavirus or tospovirus L proteins. These data lend further support for the recent reclassification of uukuviruses and phleboviruses into the same genus, Phlebovirus, in the family Bunyaviridae. The L RNA sequence completes the determination of the Uukuniemi virus genome: since the M RNA segment is 3229 and the S RNA segment 1720 nucleotides, the whole genome comprises 11372 nucleotides.

Amino Acid Sequence

Has the incidence of primary gastric lymphoma increased?

Various reports from the surgical and gastroenterologic literature have stated that the incidence of primary gastric lymphoma has increased. Other reports have claimed that this is a relative increase or represents referral center bias. The current study was designed to determine if the incidence of primary gastric lymphoma has increased in the community hospital setting. A total of 147 cases of gastric neoplasms were reviewed over a 10-year study period. The cases were divided into two 5-year periods, i.e., 1978-82 and 1983-87. There were two new cases (2.8%) of primary gastric lymphoma in the period 1978-82 and 11 new cases (19%) in the period 1983-87. The difference in proportion of primary gastric lymphoma between these two time periods was statistically significant (P = 0.01 by chi-square analysis). This increased incidence of primary gastric lymphoma is difficult to explain, but it must be recognized by surgeons and endoscopists.

Carcinoma

The impact of technology and improved perioperative management upon survival from carcinoma of the pancreas.

A community hospital experience of 238 instances of carcinoma of the pancreas during a 23 year period has been reviewed to see if there has been any change in survival, hospital stay, morbidity and operative strategy during the two decades included in this study as a result of improved diagnostic modalities and perioperative management. The results of this review indicate an increasing incidence of carcinoma of the pancreas in the second half of the study but also document a large number of patients whose diagnosis has been unsuspected until autopsy. The mortality for palliative bypass procedures dropped significantly in the second half of the study and provided a mean survival time of 7.6 months for this group of patients, approximately twice that of patients explored without palliation. Resectional procedures showed a very significant drop in mortality rate in the second half of the study and were used more extensively. Mean survival time of patients undergoing resectional procedures was 18.3 months with two prolonged survivors out of 22 patients. Significant operative morbidity remains a major problem and the chief cause of protracted postoperative stay and did not diminish in the second half of this study. Complications were primarily technical in nature. With this in mind, consideration should be given to concentrating the experience in pancreatic resectional operations in the hands of a limited number of surgeons within any given community.

Adenocarcinoma

Aspiration of the breast and nipple discharge cytology.

Between 1 January 1974 and 30 June 1984, 1,003 specimens obtained from the breast were submitted for cytologic evaluation to the Department of Pathology at the Waterbury Hospital Health Center. Eighty-eight per cent were obtained by fine needle aspiration of a palpable mass; the remainder were smears of nipple discharges. Precytologic and postcytologic clinical data were available for 80 per cent of the specimens. In the fine needle aspiration group, there were 219 instances of proved carcinomas; 79 per cent of these had either positive or suspicious cytologic findings. Seventy-five per cent of the patients with positive cytologic results underwent mastectomy without prior histologic confirmation of the needle aspiration and all were confirmed as malignant growths. There were 41 false-negative aspirates which were reviewed in detail. The cytologic slides of 24 of the 41 false-negative aspirates were available for re-evaluation by a second, independent cytopathologist. Only one was thought to have been misread initially; the remainder appeared to have been falsely negative for technical reasons related to aspiration or fixation technique or tumor size less than 1 centimeter. There was one false-positive finding in a patient who was found to have fat necrosis at biopsy. Results of nipple discharge cytology were less accurate. Positive or suspicious cytology was found in only five of 11 proved instances of carcinomas. There was one false-positive and five false-negative results in this group. We conclude that needle aspiration of palpable masses of the breast is an accurate, cost effective procedure which is readily adaptable to a community hospital, provided that a pathologist with an interest in cytology is available.

Adolescent

Scintigraphic differentiation of bone infarction from osteomyelitis in children with sickle cell disease.

Bone scans or bone marrow scans or both were obtained during 42 episodes of bone pain in 40 children with sickle cell disease, and the usefulness of these procedures was compared. On the basis of the subsequent clinical course, a diagnosis of bone infarction was made in 34 episodes, and osteomyelitis in eight. Among 22 patients with bone infarction, uptake on bone scan was increased in 14, decreased in three, and normal in five. Seven of eight patients with osteomyelitis had increased uptake on bone scan; one had normal uptake. In contrast, marrow scan uptake was markedly decreased in 15 of 16 patients with bone infarction, and was normal in five of five patients with osteomyelitis. Thus, decreased uptake on bone marrow scan in a patient with sickle cell disease and bone pain almost invariably indicates infarction, whereas normal uptake strongly suggests the diagnosis of osteomyelitis. We found marrow scans more useful than bone scans for this differential diagnosis.

Adolescent

Appendicitis in the elderly: learn to discern the untypical picture.

Symptoms and signs of appendicitis in the elderly may be vague and referable to other abdominal diseases. Diagnosis is often delayed or missed, leading to a prolonged preoperative period and increased morbidity and mortality. In this study of elderly appendicitis patients, we noted a high incidence of ruptured appendixes. At least 80% of these patients could have been operated on earlier.

Aged

Fetal- and uterine-specific antigens in human amniotic fluid.

Removal of the major maternal serum proteins from second trimester amniotic fluid by antibody affinity chromatography revealed various soluble tissue antigens, of which two were fetal-specific skin proteins and another, of alpha2-mobility, was specific to the uterus, and was therefore designated alpha-uterine protein (AUP). These proteins could not be detected in maternal serum by antibody-antigen crossed electrophoresis. The concentration of AUP in amniotic fluid reached a maximum between 10 and 20 weeks of gestation, suggesting that there is an influx of uterine protein into the amniotic fluid at this stage of pregnancy.

Amniotic Fluid