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A Philippi

Publications and source records attributed to A Philippi.

32 records · Page 2Linked to original sources
PubMed1995

A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q.

Maturity-onset diabetes of the young (MODY) is a subtype of non-insulin dependent diabetes mellitus, with early age of onset. MODY is genetically heterogeneous, associated with glucokinase mutations and a locus on chromosome 20q; in about 50% of cases, its genetic background is unknown. We have studied 12 families in which MODY is unlinked to either glucokinase or chromosome 20q markers, and find significant evidence for linkage with microsatellite markers on chromosome 12q, most likely within a 7 centimogran interval bracketed by D12S86 and D12S342. The disease was estimated to be linked to this chromosome region in approximately 50% of families in a heterogeneity analysis. These MODY patients exhibit major hyperglycaemia with a severe insulin secretory defect, suggesting that the causal gene is implicated in pancreatic beta-cell function.

Adolescent↗
PubMed1995

Thermal coronary angiography for intraoperative patency control of arterial and saphenous vein coronary artery bypass grafts: results in 370 patients.

BACKGROUND AND AIM OF THE STUDY: Early graft failure is often associated with technical failures and is therefore potentially avoidable. We used thermal coronary angiography (TCA) for intraoperative graft patency control in 370 patients undergoing routine coronary artery bypass graft surgery to determine whether consequent intraoperative bypass graft control may result in improved patency rates. METHODS: The temperature differences generated in between the myocardium and the grafts by injecting cold cardioplegic solution into the proximal end of a vein graft or by warmer blood running through an internal thoracic artery (ITA) graft were detected using three different infrared camera systems. The resulting "heat pictures" were evaluated for anastomotic patency and to outline graft anatomy. RESULTS: A total of 693 vein grafts were visualized. In 9.4% TCA failed to produce usable images. In the remaining 628 grafts, TCA revealed intraoperative patency in 98.8%. Out of 370 ITA grafts, only 14 could not be sufficiently visualized by TCA. Nineteen ITA occlusions (5.3%) were found: 5 intimal flaps; 11 suture imposed strictures; and 3 proximal ITA occlusions. All occluded grafts were subsequently revised or replaced. All sequential ITA as well as 15 right ITA grafts proved to have patent anastomoses. CONCLUSION: Using TCA an early graft dysfunction rate of 1% for vein grafts and 5.3% for ITA grafts could be demonstrated. Most occlusions were due to technical mistakes at the distal anastomosis. TCA outlines grafts and the attached coronaries by temperature differences without the need for a contrast agent. There is no interference with the surgical procedure. It is an ideal, noninvasive method to immediately document the success or failure of myocardial revascularization.

Adult↗
PubMed1995

Linkage analyses of the MODY3 locus on chromosome 12q with late-onset NIDDM.

Non-insulin-dependent diabetes mellitus (NIDDM) is a clinically and genetically heterogeneous disorder. Maturity-onset diabetes of the young (MODY), an autosomal dominant form of NIDDM, has been used as a model for genetic studies of NIDDM. We recently reported linkage between markers on chromosome 12q and diabetes in 25% of our French MODY families. To evaluate if this gene is also implicated in late-onset NIDDM, we performed linkage studies between two markers of the MODY region and diabetes in 172 families with late-onset NIDDM. Both parametric and nonparametric methods were used in a total of 600 affected sib-pairs. Linkage was rejected in this population by all methods, implying that the MODY gene on chromosome 12q is not a major gene for late-onset NIDDM in this population. However, we cannot exclude a modifying role in a polygenic disorder or an important role in some families.

Adult↗
PubMed1994

Intraoperative assessment of internal mammary artery bypass graft patency by thermal coronary angiography.

Following early graft failure in some patients during routine use of the internal mammary artery in coronary bypass surgery, a thermal coronary angiography technique was used for direct intraoperative control of internal mammary artery graft patency. This non-invasive method allows the evaluation of graft patency, anastomotic integrity and initial flow patterns without compromising the conduct of the surgical procedure. Internal mammary artery graft patency was controlled by thermal coronary angiography in 348 patients undergoing coronary bypass surgery. Graft anatomy, perfusion and distal run-off in the recipient native coronary artery was delineated by thermal coronary angiography using the temperature gradient of the warm perfusing blood and the cold myocardium. Thermal coronary angiograms were evaluated for graft and anastomotic patency as well as for direction and magnitude of internal mammary artery flow in the native coronaries. Some 348 internal mammary artery grafts, including 13 sequential grafts, were evaluated. Thermal coronary angiography failed for technical or logistical reasons in seven of 348 cases (2.0%). Thermal coronary angiography documented optimal anterograde flow in 282 of 341 cases (82.7%), reduced anterograde flow in 38 of 341 (11.1%) and no anterograde flow in 21 of 341 (6.2%). Using this approach 21 internal mammary artery graft occlusions were discovered, 18 at the anastomotic site and three at the site of the previously placed bulldog clamp. In addition, six unexpected distal native coronary stenoses and three internal mammary artery graft spasms were detected by thermal coronary angiography and found to be responsible for impaired anterograde flow. Based on these findings, 16 anastomotic revisions, nine additional vein grafts and two additional vein patches were performed.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1975

Salt and water balance and renin activity in renal hypertension of rats.

In male Sprague-Dawley rats, renal artery constriction in the presence of an inact contralateral kidney induced sodium retention (for 2-3 wk), moderate potassium loss,elevation of blood volume (BV), and an increase in water turnover. It is suggestedthat renal artery constriction activates the renin-angiotensin-aldosterone system, resulting in disordered regulation of salt and water balance and in blood pressure (BP) elevation. Subsequently, sodium balance was reestablished in one group of hypertensive rats. The previously retained sodium was kept in the body, and BV and reninactivity remained elevated. In a second group of animals, a malignant course of hypertension developed: BP surpassed a critical level of about 180 mmHg; sodium, potassium, and water were lost; BV declined; renin activity was further stimulated; and in the contralateral kidney malignant nephrosclerosis occurred. It is assumed that pressure diuresis and natriuresis induce a vicious circle: the increasing renin activity may maintain or further increase BP level, therby inducing further salt and water loss, etc.; high BP levels and high renin activities induce vascular damage and deterioration of renal function.

Adrenal Glands↗
PubMedDate not supplied

Interpreting microbiopsies in cervical smears. A cytohistologic approach.

OBJECTIVE: To assess interobserver variation in the diagnosis of thick tissue specimens (microbiopsies) in cytology smears and histologic sections taken from them, to evaluate the applicability of MIB-1 in histologic sections from microbiopsies and to evaluate whether processing microbiopsies in inconclusive smears has additional diagnostic value. STUDY DESIGN: Cytologic smears were selected in which there were diagnostic disagreements between pathologists and cytologists and microbiopsies were present. Interobserver variation among three pathologists and three cytologists in the diagnosis of these microbiopsies was investigated. The smears were processed for histologic sections, and interobserver variation between pathologist diagnoses were analyzed. An additional histologic slide stained for MIB-1 was used for consensus diagnosis. The consensus diagnosis was compared with available follow-up and its sensitivity and specificity determined. The value of applying the microbiopsy technique in slides diagnosed as inadequate or atypical squamous cells of undetermined significance (ASCUS) was analysed. RESULTS: From a series of 62,334 cervical smears, 49 with microbiopsies were selected. It was possible to derive histologic slides from 38 cases. Interobserver variability in the diagnosis of microbiopsies and histologic sections from them was moderate--kappa = .44 (SE = .06) and kappa = .44 (SE = .09), respectively. In the consensus meeting for all cases, a conclusive diagnosis was reached. The Pearson correlation coefficient between the consensus diagnosis and MIB-1 staining was r = .62. The sensitivity of the consensus diagnosis for the follow-up diagnosis was 71% and the specificity 60%. Diagnosis on approximately 50% of slides diagnosed as inadequate or ASCUS could be made. CONCLUSION: The histotechnical workup of microbiopsies is not difficult; however, their diagnosis can be a problem. Adequate diagnostic criteria are not available. Aided by MIB-1 staining, histologic sections from microbiopsies can be diagnosed, and the diagnoses correlated with follow-up in most cases. Processing of microbiopsies in smears with an inconclusive cytologic diagnosis or a diagnosis of ASCUS allowed correct diagnosis in 50% of cases in this study.

Biopsy↗