Biomedical subjects
Publications and source records attributed to J Bar-Ziv.
A rare case of accessory ectopic thymus in the right upper posterior mediastinum in a 40-day-old infant is described. The clinical presentation was that of tracheal obstruction. The compression and displacement of the trachea and the identification of the mass was enabled thanks to the high KV filtration technique. The mass was further identified by ultrasonography. Surgical removal of the accessory thymus relieved the tracheal obstruction.
Desquamative interstitial pneumonia occurred in three siblings. Cough, difficulty in breathing, cyanosis, and failure to gain weight appeared during the first month of life; progressive hypoxia followed, and the three infants died in respiratory failure before the age of 4 months despite intensive drug and supportive treatment. The radiographic and the histologic appearance of pulmonary changes were similar in all three infants. Chest radiographs yielded normal findings initially, with rapid progression to a ground glass appearance of both lungs. Histologic findings of lung biopsies showed lymphoplasmocytic infiltration and fibrous thickening of the alveolar walls, swelling of alveolar lining cells, and large clumps of macrophages with PAS-positive foamy cytoplasm in the alveolar spaces.
Congenital anterior urethral diverticulum (CAUD) was diagnosed in 7 male subjects, of whom 3 cases were neonates, 3 cases were school aged and 1 case was adolescent. Varying degrees of urinary obstruction, often associated with urinary tract infection, were the main presenting symptoms. Urinary ascites, a rare manifestation of CAUD, was presented in a neonate associated with severe upper urinary tract changes. In 6 cases the diverticulum was of the wide-mouthed saccular type, and in 1 case of the narrow neck globular type. The clinical presentations, methods of diagnosis and the treatment modalities are discussed.
Explore the source record for details and available documents.
In six pediatric patients, pulmonary edema (PE) appeared on chest x-ray film following intubation for upper airway obstruction (UAO). In spite of the x-ray appearance of PE, there was generally no concomitant physiologic or clinical decline. Only one of the patients required positive airway pressure following intubation. We conclude that PE on chest x-ray film following intubation for UAO is not uncommon, and may not be a harbinger of clinical and/or physiologic deterioration.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. We compare this familial syndrome to Fanconi anemia and other radial ray aplasia syndromes and conclude that we are dealing with a different entity, which apparently is inherited as a dominant trait.
We report a man who had the branchio-oto-renal (BOR) syndrome with crossed renal ectopia. His three children were born with bilateral renal agenesis and the so-called Potter syndrome. This case illustrates the potential severity of the renal anomalies in the BOR syndrome and the inadequacy of oligohydramnios and maternal serum alpha-fetoprotein as screening methods for renal agenesis. This case also implies strongly the necessity for meticulous search for renal anomalies in individuals with the BOR syndrome and proper counseling regarding the possibility of lethal bilateral renal agenesis.
Explore the source record for details and available documents.
Two pairs of twins are being reported where monozygocity was supported by the observed sharing of a single and common placenta and by ABO and HLA identity. Only one of each pair of twins was affected by long-segment Hirschsprung's disease; the other twins were entirely normal. Discordant Hirschsprung's disease in monozygotic twins is very rare. The etiology in such cases is influenced by genetic or by environmental intrauterine factors rather than by postnatal influences, as suggested elsewhere.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We report two sibs who were the products of a consanguineous mating, and who had an extensive form of aplasia cutis congenita (ACC). In one of them the generalized skin disorder was manifested by slipping off of the epidermis and mucous membranes with the slightest trauma. This sib also had pyloric atresia and other congenital malformations. Two hypotheses are presented to explain the discordance between the siblings for the abnormalities other than the ACC. One hypothesis assumes varying degrees of severity of the same autosomal recessive disease. The second suggests linkage between the gene for ACC and the gene for an epidermolysis bullosa (EB)-like disorder and pyloric atresia. a recombination event involving the EB-pyloric atresia gene in one carrier parent would then lead to an offspring with only ACC. Prenatal diagnosis is suggested by monitoring alpha-fetoprotein levels in aminotic fluid.
Explore the source record for details and available documents.
A rare case of avascular necrosis of bone of unknown etiology affecting several phalanges of one hand in a 12-year-old Israeli girl is presented. This entity has been described in the literature under the title of "Phalangeal microgeodic syndrome in childhood." Forty cases have been reported mostly from Japan. The clinical presentation is that of a sudden onset of chilblain-like appearance of the fingers. Characteristically, the disease occurs in the colder months of the year. The radiological picture is pathognomonic although an inexperienced observer might suspect an aggressive destructive lesion. The prognosis is excellent as the disease is a self-limited one and surgery is unnecessary.