Biomedical subjects
Publications and source records attributed to A Ravel.
Giemsa-stained chromosomes, epi-illuminated with white light produced a brilliant image. The chromatids were yellow-green and the areas between the chromosomes contained tiny orange particles. This inter-chromosomal network was selectively removed by RNase treatment.
The detection of a familial translocation, t(10;18)(p12;q22), has made possible the observation in type and countertype of two related persons with opposite chromosomal imbalance: trisomy 18q22----18qter with monosomy 10p12----10pter in one of the two and monosomy 18q22----10pter in the other. In each case the abnormalities attributable to monosomy overrule those attributable to monosomy overrule those attributable to the associated trisomy.
A technique is described by which unstained metaphases may be observed using phase contrast microscopy. The cells are fixed on a cover slip which then is turned over and onto a slide, leaving a thin air layer sandwiched between. Observation in phase contrast shows metaphases comparable to those observed after Giemsa staining.
Observation of a patient with r(14) mosaicism together along with 18 previously published observations define the syndrome as follows: mental deficiency, seizures, microcephaly (usually), and facial dysmorphism showing a narrow, elongated face, short palpebral fissures, a flat nasal bridge, and retrognathia. A retinal dystrophia which may be specific of the syndrome consists of a hyperpigmentation and, in three patients, yellow-white spots of the macula. The brain shows mild dilation of the lateral ventricles.
Forty-two patients with the fragile-X syndrome have been treated with oral folic acid, 0.5 mg/kg/d. An improvement of the behavior was observed in the majority of the cases, and evolution of the IQ showed a favorable tendency at the border of statistical significance. On the contrary, the addition to the treatment regime of methionine or of carnitine (carriers of methyl radicals) had unfavorable effects. In view of the few preliminary convergent observation recorded in literature, a continued trial of folic acid treatment seems justified. Simultaneously, however, research is indicated on monocarbon metabolism, probably affected in these patients.
PURPOSE: Percutaneous recanalization of renal artery occlusion was attempted in 10 patients. METHODS: All patients were hypertensive; before the procedure, the serum creatinine level was 80 mumol/L in one patient, ranged from 130-250 mumol/L in four patients, and was greater than 350 mumol/L in five, three of whom had anuria. Nine occlusions were thrombotic, one due to bilateral renal artery embolism. In four patients, percutaneous transluminal angioplasty of a contralateral renal artery occlusion was bilateral. In three patients, complementary local fibrinolysis was necessary. RESULTS: Three technical failures and one rethrombosis occurred after 24 h; in three of these cases the date of previous occlusion was unknown, whereas a relatively precise data was known for the seven other patients. One false aneurysm of the femoral artery was found 1 month after the procedure. One patient, after six technical successes, died 5 weeks after the procedure; follow-up for the other five was 6-36 months. Blood pressure was unchanged in four patients and improved in two. A significant and durable improvement of creatinine serum level (at least a 20% decrease) was observed in all six patients, usually after 1 month, thus enabling discontinuance of dialysis in three patients. CONCLUSION: Percutaneous recanalization should be proposed in cases of renal artery occlusion, especially to avoid terminal vascular azotemia and dialysis.
PURPOSE: To assess the endovascular treatment of splenic artery aneurysms and false aneurysms. METHODS: Twelve patients (mean age 59 years, range 47-75 years) with splenic artery aneurysm (n = 10) or false aneurysm (n = 2) were treated. The lesion was asymptomatic in 11 patients; hemobilia was observed in one patient. The lesion was juxta-ostial in one case, located on the intermediate segment of the splenic artery in four, near the splenic hilus in six, and affected the whole length of the artery in one patient. In 10 cases, the maximum lesion diameter was greater than 2 cm; in one case 30% growth of an aneurysm 18 mm in diameter had occurred in 6 months; in the last case, two distal aneurysms were associated (17 and 18 mm in diameter). In one case, stent-grafting was attempted; one detachable balloon occlusion was performed; the 10 other patients were treated with coils. RESULTS: Endovascular treatment was possible in 11 patients (92%) (one failure: stenting attempt). In four cases among 11, the initial treatment was not successful (residual perfusion of aneurysm); surgical treatment was carried out in one case, and a second embolization in two. Thus in nine cases (75%) endovascular treatment was successful: complete and persistent exclusion of the aneurysm but with spleen perfusion persisting at the end of follow-up on CT scans (mean 13 months). An early and transient elevation of pancreatic enzymes was observed in four cases. CONCLUSION: Ultrasound and CT have made the diagnosis of splenic artery aneurysm or false aneurysm more frequent. Endovascular treatment, the morbidity of which is low, is effective and spares the spleen.
PURPOSE: To investigate whether a correlation exists between aortic and renal arterial calcifications detected with spiral CT and significant angiographic renal artery stenosis (RAS). METHODS: Forty-two patients (mean age 67 years, range 37-84 years), of whom 24 were hypertensive, prospectively underwent abdominal helical CT and aortic and renal arteriography. The 3-mm thickness CT scans (pitch = 1) were reconstructed each millimeter. A manual outline of the renal artery including its ostial portion was produced. Calcific hyperdensities were defined as areas of density more than 130 HU. CT data were compared with the presence or absence of RAS on angiography (24 cases); hypertension and age were taken into account (Mann-Whitney U-test). RESULTS: CT detection and quantification appeared to be reliable and reproducible. We did not find any correlation between aortic and renal arterial calcifications and RAS, even for the patients above 65 years, with or without hypertension. There was no correlation either between calcifications and hypertension in patients without RAS. CONCLUSION: In this population, aortic and renal arterial calcifications have no predictive value for RAS.
UNLABELLED: Renal vascular pathologies are important causes of the chronic renal failure progression. This work aims to define retrospectively a score based on simple clinical and paraclinical helping to select atheromatous renal stenosis affected patients; 67 patients more than 50 years old have been explored by arteriography because of degradation of the renal function or hypertension: 45 of them had one, or many, significant stenosis of the renal arteries. Were analyzed: clinical data: age, weight, sex, blood pressure, previous ateromatous lesions (cardiac, peripheral, aortic), smoking, associated diabetes; biological data: serum cholesterol and creatinine, creatinine variation under angiotensin-coverting enzyme inhibitor or sodium depletion, kaliemia; radiologic data: kidney size through scanning, renal arterial and aortic calcifications on abdominal plain films and profile. The group with and without stenosis differed considerably for age (68.9 vs 64 years old, p < 0.05), smoking (26.3 vs 11.5 packet-year, p < 0.001), variation of creatinine after sensibilisation (140 mumol/l vs 17 mumol/l, p < 0.001), presence of arterial calcification (p < 0.001). A score taking in to account these four criteria was established with performances in terms of specificity and sensibility amounted to 83%. CONCLUSION: The reliable aspect of this score enabling to define a group seriously risking a renal stenosis must be checked through a prospective study.