PubMed Health⌕ Search

Biomedical subjects

J Coy

Publications and source records attributed to J Coy.

At least 19 recordsLinked to original sources

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

FG syndrome is an X-linked condition comprising mental retardation, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations. In a linkage analysis, we mapped a major FG syndrome locus [FGS1] to Xq13, between loci DXS135 and DXS1066. The same data, however, clearly demonstrated genetic heterogeneity. Recently, we studied a French family in which an inversion [inv(X)(q12q28)] segregates with clinical symptoms of FG syndrome. This suggests that one of the breakpoints corresponds to a second FG syndrome locus [FGS2]. We report the results of fluorescence in situ hybridization analysis performed in this family using YACs and cosmids encompassing the Xq11q12 and Xq28 regions. Two YACs, one positive for the DXS1 locus at Xq11.2 and one positive for the color vision pigment genes and G6PD loci at Xq28, were found to cross the breakpoints, respectively. We postulate that a gene might be disrupted by one of the breakpoints.

Abnormalities, Multiple↗

A regulatory element in the CD95 (APO-1/Fas) ligand promoter is essential for responsiveness to TCR-mediated activation.

Expression of the CD95 (APO-1/Fas) ligand (CD95L) in activated T cells is a major cause of T cell activation-induced apoptosis. To study the molecular mechanisms of transcriptional control of CD95L expression in T cells, we investigated the human CD95L promoter in Jurkat T cells. Deletion studies revealed that the CD95L proximal promoter sequence from -220 to the transcription start site is essential for T cell stimulation-induced expression of CD95L. In this study, we discovered a novel regulatory element located at -120 of the CD95L promoter which contains DNA binding sites for SP-1 and a yet unknown inducible factor. Mutation analysis demonstrated that binding of the inducible factor to the -120 region is crucial for the biological function of the CD95L promoter upon T cell stimulation. The DNA sequence at -120 also contains two DNA motifs homologous to the binding site for NF-AT. NF-AT does not directly bind to this element. However, cotransfection studies with an NF-AT expression vector showed that NF-AT may confer a strong inducible activity to the CD95L promoter at this regulatory region. Our data also show that the immunosuppressive agent cyclosporin A down-regulates CD95L transcription by inhibiting the function of this positive regulatory element.

Apoptosis↗

Unsuspected abdominal aortic aneurysm.

This case is an example of an unsuspected abdominal aortic aneurysm. The patient's symptoms and the history obtained were suggestive of osteoarthritis. The patient sought medical attention for low-back pain through a compensation and pension exam.

Aged↗

Use of the hand-held dental X-ray machine during joint operation, NATO exercise Display Determination-92.

The hand-held dental X-ray machine is a 30-pound, battery-powered X-ray machine capable of use in military medicine, humanitarian missions, and training exercises. The machine was developed for dental radiology, but with the attachment of a medical collimator, the equipment can also be used for medical exams. In 1992, the machine was tested under field conditions in a NATO joint exercise in Bolayir, Turkey. The hand-held dental X-ray machine was found easier to use than the currently deployed Siemens dental X-ray unit and than produced radiographs of equal quality.

Adult↗

Vascular injury secondary to gunshot wound: wanna be, gonna be, never was.

This case report is unusual not because of the history of gunshot wound but because the patient lied about the injury. The patient stated that he was wounded in combat while serving in Vietnam. When records were verified, it was discovered that the patient was not a veteran and, therefore, could not have been injured in combat. The fact that this patient claimed to be a combat veteran but never served in the military brings to mind the words from the well-known Airborne cadence "Wanna Be, Gonna Be." However, in this case the patient never was.

Arteries↗

Sheath detachment during coronary arteriogram.

Angiographic procedures are technically difficult when soft-tissue scarring and deformity are present at the site of vascular access. This case demonstrates the rare complication of catheter-sheath separation during an attempted coronary arteriogram. The patient had deformity and soft-tissue scarring due to bilateral lower-extremity amputation secondary to blast injuries sustained in Vietnam.

Adult↗

Peacetime clinical experience with "fratricide": a veterans hospital experience.

It is very important for those involved in military medicine to understand the difference between fratricide, accidents, and other causes of wounding. The military medical care provider is often considered an authority on wounding. This is usually not the case. The three examples discussed in this paper illustrate some of the basic misconceptions about "friendly fire" and the appropriate use of the term "fratricide."

Accidents↗

Is use of hospital services a proxy for morbidity? A small area comparison of the prevalence of arthritis, depression, dyspepsia, obesity, and respiratory disease with inpatient admission rates for these disorders in England.

OBJECTIVES: To examine the relationship between specific types of morbidity, measured by validated survey questions, and hospital service use and mortality to see if the latter two could act as a proxy in health needs assessment, health service planning, and resource allocation in a typical health district. DESIGN: A postal questionnaire was used to provide information about depression, digestive disorders, musculo-skeletal disorders, obesity, respiratory disease, and hip and knee pain. The questions were from survey instruments that have been widely used to derive information about these conditions. The relationships between the prevalence of these specific types of morbidity and appropriate admission and mortality rates were explored using linear regression and Pearson correlation analysis. SETTING: The population of Rotherham health district, England. SUBJECTS: A simple random sample of the residents of each of the 22 electoral wards in Rotherham health district. RESULTS: Responses were obtained from 78% of the 5000 sampled (82% after excluding people who had moved house or died). Significant, positive correlations were found between the prevalence of respiratory disease and the hospital admission and mortality rates for respiratory problems (r = 0.68, p < 0.01 and r = 0.54, p < 0.01) and the prevalence of depression and the admission rate for depression (r = 0.52, p < 0.05). No such relations were found for digestive disease, musculo-skeletal disease, and obesity. For the conditions examined here, hospital service use was a more useful measure than mortality. CONCLUSIONS: Only two diseases (respiratory disease and depression) out of the seven diseases or procedures investigated showed a positive correlation between hospital admission and disease prevalence. But even for these two, the correlations explained less than 50% of the variance. Caution must be exercised when hospital service use is being considered as a proxy for morbidity.

Adolescent↗

Lower extremity amputation in a Marine veteran 22 years following vascular injury in Vietnam.

Injuries of the extremities are common in combat. This patient sustained a vascular injury to his left leg, but he did not experience any medical problems for 18 years after initial injury. In 1988, he began to experience repeated problems with graft occlusion. After 4 years of repeated surgical intervention and medical treatment, the patient had surgical amputation of his left leg.

Adult↗

Are deprivation indicators a proxy for morbidity? A comparison of the prevalence of arthritis, depression, dyspepsia, obesity and respiratory symptoms with unemployment rates and Jarman scores.

The aim of the study was to examine the relationship between specific areas of morbidity measured using validated survey questions and deprivation indicators to see if the latter could act as a proxy in health needs assessment, health service planning and resource allocation in a typical health authority. A postal questionnaire was used to provide information about arthritis, depression, dyspepsia, obesity and respiratory symptoms in a simple random sample from the study population. The questions were from survey instruments that have been widely used to derive information about these conditions. The relationships between the prevalence of these specific areas of morbidity and both unemployment and the Jarman Underprivileged Areas Score were explored. Spearman's rank correlation coefficients were calculated and compared for each combination of measures. The study population was a random sample of the residents of each of the 22 electoral wards in Rotherham Health Authority. Responses were obtained from 82 per cent of the 5000 sampled. Although all morbidity measures showed positive correlations with both Jarman score and unemployment, some, notably those relating to respiratory disease and depression, were much more strongly correlated than others, such as obesity. There was no difference between unemployment and Jarman score in respect of the magnitude of the correlation coefficients. In conclusion, for some, but not all, conditions socio-economic measures are a good proxy for morbidity. Unemployment is just as useful a proxy as the Jarman score.

Arthritis↗

Intrathoracic splenosis.

Intrathoracic splenosis is a rare complication of combined diaphragmatic and splenic injury. This is the 79th reported case of splenosis and the seventh case of intrathoracic splenosis. That intrathoracic splenosis can mimic carcinoma of the lung on chest roentgenogram is exemplified by the similarity between the patient's chest film and that of his brother who died of lung cancer during the patient's hospital stay.

Diagnosis, Differential↗