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Biomedical subjects

D Frey

Publications and source records attributed to D Frey.

At least 55 records · Page 3Linked to original sources
PubMed1988

Short stature: a common feature in Duchenne muscular dystrophy.

In a retrospective growth evaluation, which included parental height, birth length and a longitudinal analysis of growth and bone maturation, it has been shown that short stature is a common finding in Duchenne muscular dystrophy already in an early or even preclinical stage. Normal length and weight at birth, slow subsequent growth with a curve crossing the centiles in the 1st years of life, and normal bone maturation are characteristic of this type of short stature.

Body Height↗
PubMed1988

Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.

In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of the X chromosome proximal to the Duchenne muscular dystrophy locus.

Anemia, Hemolytic, Congenital↗
PubMed1988

Localization of the McLeod locus (XK) within Xp21 by deletion analysis.

The McLeod phenotype is an X-linked, recessive disorder in which the red blood cells demonstrate acanthocytic morphology and weakened antigenicity in the Kell blood group system. The phenotype is associated with a reduction of in vivo red cell survival, but the permanent hemolytic state is usually compensated by erythropoietic hyperplasia. The McLeod phenotype is accompanied by either a subclinical myopathy and elevated creatine kinase (CK) or X-linked chronic granulomatous disease (CGD). Seven males with the McLeod red-blood-cell phenotype and associated myopathy but not CGD, one male with the McLeod phenotype associated with CGD, and two males known to possess large deletions of the Duchenne muscular dystrophy (DMD) locus were studied. DNA isolated from each patient was screened for the presence or absence of various cloned sequences located in the Xp21 region of the human X chromosome. Two of the seven males who have only the McLeod phenotype and are cousins exhibit deletions for four Xp21 cloned fragments but are not deleted for any portion of either the CGD or the DMD loci. Comparison of the cloned segments absent from these two McLeod cousins with those absent from the two DMD boys and the CGD/McLeod patient leads to the submapping of various cloned DNA segments within the Xp21 region. The results place the locus for the McLeod phenotype within a 500-kb interval distal from the CGD locus toward the DMD locus.

Adult↗
PubMed1987

Cystic neoplasms of the pancreas.

From 1963 to 1983, 26 patients with cystic neoplasms of the pancreas were treated at the Lahey Clinic, Burlington, Mass. Cystadenoma (15 patients) was more common than cystadenocarcinoma (11 patients). Preoperative symptoms, such as abdominal pain, were present for as long as 18 years before diagnosis. The mean size of cysts was 7 cm. Distal pancreatectomy, the most common operation, was performed in ten patients. Eight of the 11 patients with cystadenocarcinoma had metastatic disease at the time of surgical exploration. There was one postoperative death (3.8%). Patients with cystadenocarcinoma had an adjusted median survival time after operation of 6.0 months. The long prodrome in many of the cancer patients suggests that benign cystadenomas, particularly of the mucinous type, may undergo malignant degeneration. Benign cystadenoma seems unlikely to recur after adequate resection. Whenever possible, complete excision of cystadenoma and cystadenocarcinoma is the procedure of choice.

Actuarial Analysis↗
PubMed1986

X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.

Two families with X-linked dominant hypophosphatemia (McKusick No. *30780) were investigated for linkage of the disease locus with several marker genes defined by cloned, single-copy DNA sequences derived from defined regions of the X chromosome. Close linkage was found with DNA markers DXS41 (p99-6) and DXS43 (pD2) at Xp22, suggesting a location of the HPDR gene on the distal short arm of the X chromosome.

Chromosome Mapping↗
PubMed1986

Information seeking of high- and low-anxiety subjects after receiving positive and negative self-relevant feedback.

The present paper reports an experiment in which subjects received fictitious intelligence test feedback that was either negatively or positively discrepant with their self-evaluation. They were then given an opportunity to choose among several articles containing information that either derogated intelligence tests (test-disparaging information) or argued for their validity (test-supporting information). The main finding of this study consists of an interaction between the personality factor anxiety and the feedback variable: High-anxiety subjects prefer test-disparaging information significantly more in the negative feedback condition than in the positive feedback condition, whereas low-anxiety subjects show no difference in preference for test-related information as a function of the feedback condition. These results are in line with past theoretical reasoning and experimental findings showing that high-anxiety subjects feel more threatened by negative self-relevant feedback than do low-anxiety subjects.

Adolescent↗
PubMed1985

Glomerular filtration rate in transplantation patients: estimation of renal function using Tc-99m DTPA.

The clinical assessment of a transplanted kidney is often difficult, especially in the immediate postoperative period. The biochemical parameters used to monitor renal function change slowly and can take several days to reflect the actual renal status. We have modified a technique for determining the glomerular filtration rate (GFR) from a Tc-99m DTPA renal scan and have found that it correlates with the actual GFR throughout the postoperative course. In addition, we describe a method for changing dose calibrator measurements into administered counts. This technique for determining the GFR provides a quick and accurate assessment of renal function and is useful to guide therapeutic decisions.

Adolescent↗
PubMed1985

Response facilitation: implications for perceptual theory, psychotherapy, neurophysiology, and earthquake prediction.

There have been numerous naturalistic observations and anecdotal reports of abnormal animal behavior prior to earthquakes. Basic physiological and behavioral data have been brought together with geophysical data to develop a specific explanation to account for how animals could perceive and respond to precursors of impending earthquakes. The behavior predicted provides a reasonable approximation to the reported abnormal behaviors; that is, the behavior appears to be partly reflexive and partly operant. It can best be described as agitated stereotypic behavior. The explanation formulated has substantial implications for perceptual theory, psychotherapy, and neurophysiology, as well as for earthquake prediction. Testable predictions for biology, psychology, and geophysics can be derived from the explanation.

Animals↗
PubMed1982

[Irritable colon--yes or no? Does the anamnesis help in the decision?].

To assess the value of history in evaluating abdominal pain, 45 outpatients (25 women and 20 men) aged 16-76 completed a questionnaire. The affirmative replies of the patients with organic disease were compared with those of patients with irritable bowel syndrome (IBS) by the chi 2 test. 17 patients had organic diseases while 28 had IBS. The features indicating an organic lesion (p less than 0.0005) were age over 50, history of short duration, bloody stools, bowel incontinence and urgency, pain at night, pain lasting minutes, colicly pain, and onset of pain 1-2 h after meals. Typical features of IBS (p less than 0.0005) were age below 50, frequent bowel movements of normal consistency, increased pain with emotional stress, a rigid personality and an exceptionally well-groomed appearance. From these findings the following conclusions are drawn: 1. Patients with organic disease always present with two symptoms indicative of an organic origin and with one highly significant symptom of IBS at most. 2. IBS is characterized by a broad range of various highly significant symptoms simultaneously. There is a larger number of significant symptoms against IBS (n = 10) than for it (n = 4). History serves rather to rule out IBS than to prove it.

Adolescent↗