Biomedical subjects
Publications and source records attributed to N Perlmutter.
Achalasia is a rare pathology in infancy. It is still more infrequent when associated with adrenal insufficiency and alacrima, a disorder known as Allgrove's syndrome, the etiology of which remains unclear. We describe a 9-year-old girl who presents with glucocorticoid insufficiency, partial mineralocorticoid deficiency, achalasia, and alacrima.
We are unaware of any other anatomical study which deals with normal variations in the relationship between the superior mesenteric artery (SMA) and the superior mesenteric vein (SMV). In our investigation in the majority of cases, the SMV lies to the right of the SMA. It has been suggested that ultrasonographic demonstration of a left sided SMV, is characteristic of midgut malrotation so a prospective study was undertaken in order to try to correlate the position of the mesenteric vessels on Ultrasound with the radiological diagnosis of midgut malrotation on upper GI series. 427 children (95% infants) who were planned for upper GI investigation, have had color Doppler U.S. of the mesenteric vessels before the barium study. In 67 cases, the mesenteric vessels were obscured by intestinal gas. Among them, there were 2 cases of malrotation. Three different positions of the mesenteric vessels were found in the 360 remaining cases. 1) A left sided SMV was found in 4% of the cases, all had midgut malrotation on X-rays and at surgery. 2) A mesenteric vein anterior to the SMA was found in 5% of the cases, 28% had midgut malrotation. 3) A normal right sided SMV was found in 91% of the cases. However 3% of these had midgut malrotation. There are anatomical variations in the position of the mesenteric vessels and a normal relationship between SMA and SMV does not exclude the possibility of intestinal malrotation. Nevertheless, ultrasound remains a useful noninvasive screening technique for the diagnosis of midgut malrotation.
We report our observations made by conventional radiography, ultrasound, computerized tomography (CT), and magnetic resonance imaging (MRI) on a 3 1/2-year-old girl with Gaucher's disease. The interest of the case consists in the exceptional lungs involvement, the demonstration by MRI of the bone marrow involvement and the necrosis and fibrosis of the liver, as shown by CT. This liver complication has been previously reported only once.
Electrocardiographic abnormalities develop in patients with chronic aortic regurgitation (AR). Although vasodilator drugs may reduce left ventricular (LV) volume overload, the effects of such therapy on electrocardiographic abnormalities have not been previously evaluated. Accordingly, electrocardiograms were analyzed before and after double-blind, randomized administration of either hydralazine or placebo in 54 patients with chronic AR. These patients were without limiting symptoms and had preserved ejection fraction on entry in the study. The magnitude of ST-segment depression and Romhilt-Estes point score for LV hypertrophy were assessed. Baseline ST depression and LV hypertrophy scores in the placebo and hydralazine groups were not significantly different. At follow-up, after a mean of 19 +/- 6 months, there was a significant reduction in ST depression in patients taking hydralazine (n = 28) compared with patients given placebo (n = 26): -0.023 +/- 0.044 vs 0.029 +/- 0.055 mV, respectively (p = 0.0001); and in the LV hypertrophy score (-1.1 +/- 2.2 vs 0.9 +/- 2.3 points, respectively; p = 0.002). Hydralazine-treated patients also had significant decreases in LV end-diastolic and end-systolic volume indexes, and a significant increase in ejection fraction. These results suggest that such vasodilator therapy may be beneficial in patients with chronic AR.
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We found that a painful hip without radiological changes presented a modification of the magnetic resonance image of the femoral head and neck with diffuse low T1 weighted and high T2 weighted signal. Core biopsy showed that the bone marrow was replaced from the neck to the head of the femur by fibroblastic tissue and edema without detectable trabecular bone impairment. Classical radiographic, CT, and MRI abnormalities of osteonecrosis of the femoral head were present 14 months later. This report suggested that diffuse femoral head and neck medullary impairment with fat cell replacement by fibroblastic tissue without evidence of trabecular bone necrosis can be found at the early stages of idiopathic osteonecrosis.
To better define the magnetic resonance imaging (MRI) features during transient osteoporosis of the hip, we carried out sequential MRI of 8 patients with transient osteoporosis of the hip showing the typical radiographic pattern of diffuse osteoporosis of the femoral head. These cases displayed the same MRI changes in the femoral head and neck characterized by low signal intensity on the T1 weighted images and high signal intensity on the T2 weighted images. The MRI signal became normal within 11 months, but surprisingly, migration of the MRI abnormalities was observed during the course of the disease in 5 cases: abnormal MRI signals were first observed in the anterior area, then migrated to the posterior part, while a normal MRI signal reappeared in the anterior part. We conclude that MRI seems to show some particular features in transient osteoporosis of the hip, which normalize after a few months of evolution; this could represent a migration of MRI abnormalities. Such findings could help in the differential diagnosis of hip diseases such as aseptic bone necrosis.
A 21-year-old male with mental retardation, short stature, almond-shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430-437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.
It is illustrated that phase-sensitive inversion-recovery MR images are particularly well suited for the monitoring of brain maturation and myelination in the neonate and young infant. Provided appropriate timings are applied with the inversion-recovery MR pulse sequence, the myelinated areas show up as bright spots in the phase-sensitive images. The chronology of the appearance, and the location of these hyperintense zones correlate well with the chronology of brain maturation, as assessed by other means. In particular, the progressive functional capabilities of the infant correlate well with the progress of myelination, as exhibited by the MR images.
A 13 year 2 month old girl was referred with panhypopituitarism without diabetes insipidus. Magnetic resonance imaging demonstrated transection of the pituitary stalk, a hypoplastic pituitary gland, and the presence of an ectopic neurohypophysis located at the proximal stump of the transected stalk.
1. To investigate the effect of lignocaine upon coronary blood flow, myocardial systolic wall function and high energy phosphate stores, lignocaine was administered as a rapid intravenous injection to 14 open chest anaesthetized swine. 2. Before and after injection, measurements were made of coronary blood flow by electromagnetic flow probe, per cent wall thickening by ultrasonic crystals, adenosine triphosphate (ATP) and creatine phosphate (CP) content by myocardial biopsy, and arterial pressure by central aortic catheter. The animals were divided into two groups based on whether or not they received a continuous low-dose infusion of lignocaine prior to the study. Group I received the continuous low-dose infusion of lignocaine and group II did not. 3. With a 2 mg/kg lignocaine injection, peak diastolic coronary flow rose significantly in groups I and II by 27 +/- 7 and 29 +/- 7% respectively. This was followed by a significant decline in per cent wall thickening in groups I and II of -11 +/- 2 and -19 +/- 6% respectively. In group I myocardial CP content decreased after lignocaine injection by 58 +/- 6% and ATP tended to rise even though systolic and diastolic pressure did not change significantly. In group II neither CP nor ATP changed significantly, but systolic and diastolic blood pressure decreased significantly. 4. Repeat lignocaine injections were given over a wider dosage range (0.5-4.0 mg/kg) to determine dose-response for lignocaine versus coronary blood flow. Coronary blood flow increased and per cent wall thickening decreased as doses of lignocaine were increased. 5. It was concluded that rapid intravenous lignocaine injection appeared to cause a dose-dependent coronary dilatation and systolic dysfunction. Pre-treatment with low-dose continuous infusion of lignocaine appeared to result in a decrease in CP and a rise in ATP when compared with no pre-treatment--despite a similar effect on myocardial function and coronary blood flow.
Five cases of central diabetes insipidus demonstrate the potential of MRI to explore the hypothalamohypophysial axis. The diversity of the detected pathologies are illustrated: abnormal signal of the posterior pituitary in an idiopathic diabetes insipidus, lobar prosencephaly, malignant teratoma (embryonal carcinoma), histiocytosis X, craniopharyngioma.
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Cortical, subcortical and subependymal tubers were more completely and more clearly depicted by MR than by CT and US in a 3-week-old infant. These lesions were best shown on T1-weighted images as areas of high signal intensity.
To assess the effectiveness of nuclear magnetic-resonance imaging in the detection of osteonecrosis of the femoral head, we studied the cases of twenty-five patients (forty-nine hips) in whom necrosis of the femoral head was suspected on the basis of plain radiographs, computed tomographic scans, radionuclide bone scans, and magnetic resonance-imaging scans. The results of these investigations were compared, for all except one patient, with the pathological findings of transtrochanteric core biopsies of the femoral head and neck of both hips. Of the forty-nine hips, thirty-three had histological proof of osteonecrosis. Twenty-two (67 per cent) of these hips showed definite necrosis on the plain radiographs; eighteen (62 per cent), on the twenty-nine available computed tomographic scans; twenty-four (77 per cent), on the thirty-one available radionuclide bone scans; and all of the hips, on the magnetic resonance-imaging studies. In six additional hips, there were histological changes (marrow necrosis, edema, hemorrhage, and fibrosis) in the medullary spaces without detectable osteonecrosis. The plain radiographs and computed tomographic scans of these six hips were normal except for the computed tomographic scan of one, and the radionuclide uptake on bone-scanning was abnormal in four of the six, as were the magnetic resonance-imaging studies. In the two hips that had normal magnetic resonance-imaging studies, the biopsies showed only destruction of fat cells in the medullary spaces, with no edema or fibroblastic reaction.(ABSTRACT TRUNCATED AT 250 WORDS)
A 3-year-old girl with a complicated partial anomalous pulmonary venous return presented a scintigraphic pattern characterized by an absence of perfusion of the right lung, contrasting with normal ventilation.
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