We report a child who was thought to suffer a non-accidental injury. The parents were unable to c... more We report a child who was thought to suffer a non-accidental injury. The parents were unable to convince the child abuse team of their innocence. The eruption of lucent teeth established the diagnosis of osteogenesis imperfecta type IVB.
A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal... more A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal failure. In addition, she complained of blurred vision and there was a purpuric skin eruption localized to her legs. A renal biopsy revealed fibrillary glomerulonephritis. Skin biopsy demonstrated swelling of capillary endothelium, thickening of arteriolar walls and deposition of IgA, C3 and fibrinogen by immunofluorescence. Opthalmoscopy and fluorescein angiography disclosed cotton wool spots with intraretinal haemorrhages and ischaemia of the macula. Albumin infusions resulted in worsening of eye symptoms and signs. The presence of these three clinicopathologic entities in a patient with CF may indicate the possibility of systemic involvement related to continued exposure to chronic bacterial lower lung infection.
Spiral CT (SCT) angiography and three-dimensional (3D) reconstruction methods represent noninvasi... more Spiral CT (SCT) angiography and three-dimensional (3D) reconstruction methods represent noninvasive tools in diagnosis of vascular rings and associated tracheobronchial anomalies in the pediatric age group. Three patients suspected on clinical and conventional radiological grounds of having vascular and tracheobronchial anomalies were examined using SCT. Three-dimensional images were reconstructed using a surface rendering technique. In one case the diagnosis of complete double aortic arch was confirmed by angiography. In the other two patients the SCT and 3D reconstruction established the diagnosis of pulmonary sling and right aortic arch associated with left aberrant subclavian artery and angiography could be avoided. Spiral CT and color-coded 3D reconstruction represent important additional tools and perhaps alternatives to angiography or other noninvasive techniques used in evaluation of vascular anomalies of the thoracic aorta and pulmonary arteries in infants and children.
Recently a few cystic fibrosis (CF) patients with borderline or normal sweat tests have been repo... more Recently a few cystic fibrosis (CF) patients with borderline or normal sweat tests have been reported. These patients present a diagnostic challenge. We aimed to study the sweat Cl/Na ratio in cystic fibrosis patients and to assess whether this ratio could be used as a diagnostic criteria. The mean sweat Cl/Na ratio of 3 groups was compared: Group A: 71 CF patients carrying 2 mutations known to be associated with severe disease presentation (delta F508, W1282X, G542X, N1303K, 1717-1G --> A). Group B: 10 compound heterozygous patients who carry one mutation associated with mild clinical disease (3849 + 10 kb --> T). Group C: 142 normal subjects. Sweat chloride levels higher than those of sodium were found in 96% of patients in Group A as compared to 3% of patients in Group C. In Group B 40% of the patients had sweat chloride levels higher than or equal to sodium levels. The mean Cl/Na ratio of Group A (1.2 +/- 0.1) differed significantly from that of Group B (0.94 +/- 0.1) and both groups had significant higher mean Cl/Na ratio compared to Group C (0.7 +/- 0.4) (P < 0.001). Thus in individuals with a borderline sweat test and a Cl/Na ratio > or = 1 the diagnosis of CF should be considered. However, a Cl/Na ratio < 1 does not exclude CF, since patients carrying mild mutations may have sweat sodium levels higher than those of chloride. Our findings suggest that the sweat Cl/Na ratio in CF is genetically determined and it may be of help in establishing the diagnosis of CF in patients with a borderline sweat test.
We report a child who was thought to suffer a non-accidental injury. The parents were unable to c... more We report a child who was thought to suffer a non-accidental injury. The parents were unable to convince the child abuse team of their innocence. The eruption of lucent teeth established the diagnosis of osteogenesis imperfecta type IVB.
A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal... more A 28-year-old female with cystic fibrosis presented with nephrotic syndrome and progressive renal failure. In addition, she complained of blurred vision and there was a purpuric skin eruption localized to her legs. A renal biopsy revealed fibrillary glomerulonephritis. Skin biopsy demonstrated swelling of capillary endothelium, thickening of arteriolar walls and deposition of IgA, C3 and fibrinogen by immunofluorescence. Opthalmoscopy and fluorescein angiography disclosed cotton wool spots with intraretinal haemorrhages and ischaemia of the macula. Albumin infusions resulted in worsening of eye symptoms and signs. The presence of these three clinicopathologic entities in a patient with CF may indicate the possibility of systemic involvement related to continued exposure to chronic bacterial lower lung infection.
Spiral CT (SCT) angiography and three-dimensional (3D) reconstruction methods represent noninvasi... more Spiral CT (SCT) angiography and three-dimensional (3D) reconstruction methods represent noninvasive tools in diagnosis of vascular rings and associated tracheobronchial anomalies in the pediatric age group. Three patients suspected on clinical and conventional radiological grounds of having vascular and tracheobronchial anomalies were examined using SCT. Three-dimensional images were reconstructed using a surface rendering technique. In one case the diagnosis of complete double aortic arch was confirmed by angiography. In the other two patients the SCT and 3D reconstruction established the diagnosis of pulmonary sling and right aortic arch associated with left aberrant subclavian artery and angiography could be avoided. Spiral CT and color-coded 3D reconstruction represent important additional tools and perhaps alternatives to angiography or other noninvasive techniques used in evaluation of vascular anomalies of the thoracic aorta and pulmonary arteries in infants and children.
Recently a few cystic fibrosis (CF) patients with borderline or normal sweat tests have been repo... more Recently a few cystic fibrosis (CF) patients with borderline or normal sweat tests have been reported. These patients present a diagnostic challenge. We aimed to study the sweat Cl/Na ratio in cystic fibrosis patients and to assess whether this ratio could be used as a diagnostic criteria. The mean sweat Cl/Na ratio of 3 groups was compared: Group A: 71 CF patients carrying 2 mutations known to be associated with severe disease presentation (delta F508, W1282X, G542X, N1303K, 1717-1G --> A). Group B: 10 compound heterozygous patients who carry one mutation associated with mild clinical disease (3849 + 10 kb --> T). Group C: 142 normal subjects. Sweat chloride levels higher than those of sodium were found in 96% of patients in Group A as compared to 3% of patients in Group C. In Group B 40% of the patients had sweat chloride levels higher than or equal to sodium levels. The mean Cl/Na ratio of Group A (1.2 +/- 0.1) differed significantly from that of Group B (0.94 +/- 0.1) and both groups had significant higher mean Cl/Na ratio compared to Group C (0.7 +/- 0.4) (P < 0.001). Thus in individuals with a borderline sweat test and a Cl/Na ratio > or = 1 the diagnosis of CF should be considered. However, a Cl/Na ratio < 1 does not exclude CF, since patients carrying mild mutations may have sweat sodium levels higher than those of chloride. Our findings suggest that the sweat Cl/Na ratio in CF is genetically determined and it may be of help in establishing the diagnosis of CF in patients with a borderline sweat test.
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Papers by Amir Szeinberg