Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs.
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Biomedical subjects
Publications and source records attributed to M Hertz.
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A 17-year-old Jewish Sephardi male is described with symphalangism, short stature, multiple skeletal anomalies, and an accessory testis, which appears to be a new malformation syndrome of possible genetic aetiology.
Four children with anuria due to occlusion of both ureters by calculi are presented. A plain film of the abdomen revealed faintly radiopaque urinary calculi bilaterally in three patients. In the fourth case, one calculus was visualized in the right ureter, but further contralateral exploration showed an obstructing ureteral calculus in the left ureter as well. It is concluded that in children with acute anuria, the possibility of bilateral ureteral obstruction due to calculi should be the physician's first consideration.
The clinical and radiological findings in fused labia are described. Some of the patients were asymptomatic. The others were referred because of a suspicion of urinary infection. Micturating cystourethrography showed collection of contrast material above the labia and marked reflux into the vagina in all patients examined. These findings were not seen after separation of the labia. Although the diagnosis is usually a clinical one, it is suggested that labial fusion may first be recognized by the radiologist through these cystourethrographic findings and while catheterizing the child.
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We report the use of micturating cystourethrography to demonstrate complications of the urethra in hypospadias. We recommend MCU to evaluate hypospadias, both before and after the surgical repair.
LL-BM123beta, gamma1 and gamma2 are three new antibiotics produced by fermentation of an unidentified species of Nocardia. These strongly basic, water soluble compounds were isolated from the culture filtrate by CM-Sephadex ion-exchange and carbon chromatography. All three antibiotics are active against both gram-positive and gram-negative bacteria. A mixture of LL-BM123 gamma1 and gamma2 is more active than the beta component but generally less active than gentamicin.
The clinical and radiological findings in 16 patients with Hodgkin's disease involving the lung are reviewed. Lung involvement was evident at initial presentation in 11 patients and appeared during the course of the disease in five patients. All the patients had hilar as well as mediastinal lymphadenopathy; most of them--14 of 16--had the nodular sclerosis type of the disease. Patients with these combined findings are apparently more likely to develop lung lesions. Seven of the 11 patients with lung involvement at presentation were symptomatic and received combined chemotherapy in addition to radiotherapy. The lung lesions responded completely in 10 of the 11 patients, and in one they cleared slowly after more than a year of treatment. The question remains open as to whether an asymptomatic patient in the high-risk group, as described above, should receive either adjuvant chemotherapy or radiation therapy to the lung on the prophylactic basis. Our own policy is to add chemotherapy as an adjuvant to female patients and to males who have children.
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The clinical and radiological features of 22 patients with crossed ectopic kidneys are reported, including a case with unusual mobility of an unfused ectopic kidney. In some cases the anomaly was an incidental finding. However, complications were frequent and included seven hydronephrotic and three non-functioning kidneys, two of the latter were found to be obstructed by a calculus. Vesico-ureteral reflux was demonstrated in three of the five children in whom the examination was performed. Anomalous blood supply was present in all patients who underwent renal arteriography or surgery. Skeletal anomalies were present in 11 patients, one of whom had in addition coarctation of the aorta, and another atrial septal defect and anal atresia.
A case of solitary crossed renal ectopia with concomitant, severe vesicoureteral reflux and a rudimentary ipsilateral ectopic ureter draining into the vas deferens is presented. In addition to these anomalies the patient had complete urethral duplication and right cryptorchidism, as well as right congenital dislocation of the hip. To our knowledge this is the first such case to be documented in the medical literature.
A case of renal vein thrombosis in a newborn is presented. Trauma during pregnancy is suggested as an etiological factor. In contradistinction to most cases reported the newborn showed no signs of acute illness except for a palpable abdominal mass. Therefore, surgical intervention was delayed for 10 months but this did not impair the infant's growth and well-being.
A patient with beta-thalassemia intermedia with massive extramedullary hematopoiesis in the mediastinum is presented. These masses, which simulate tumors, are usually asymptomatic only rarely causing spinal cord compression. The histologic examination showed that they consist of hematopoietic tissue. The importance of correct diagnosis without surgery is stressed.
The lymphographic findings in three patients suffering from idiopathic chyluria are described. These findings included lymphangiectases and retrograde filling of kidney lymphatics;bilaterally in two and unilaterally in one patient. In the latter patient, the contrast was also seen entering the renal calyces and pelvis before passing to the bladder. The thoracic duct was patent in all three cases. The value of lymphangiography in patients with chyluria is emphasized.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.