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Biomedical subjects

G Waldstein

Publications and source records attributed to G Waldstein.

10 recordsLinked to original sources

Amniotic sheets: natural history and histology.

Eleven amniotic sheets were detected on obstetric ultrasound. Ten of these were reviewed retrospectively and one was followed prospectively throughout gestation. Amniotic sheets are single, planar reflective membranes. Evidence presented here suggests that these membranes are composed of four distinct layers: two layers of chorion sandwiched between two layers of amnion. Their mean thickness is 2.4 mm in the midportion and 4.5 mm at the free edge. A thick triangular base is frequently seen. Amniotic sheets change little during pregnancy; however, they are more difficult to identify late in gestation. They are unassociated with fetal anomalies. Mothers with amniotic sheets had a substantial incidence of previous spontaneous or therapeutic abortions.

Adolescent

Necrotizing tracheobronchitis. An ischemic lesion.

Neonates with necrotizing tracheobronchitis present a diverse clinical spectrum from asymptomatic disease to severe airway obstruction. A retrospective clinicopathologic study of 206 neonatal autopsy reports spanning a three-year period yielded 122 cases of necrotizing tracheobronchitis with an incidence of 59%. All study patients received treatment prior to the development of high-frequency ventilator jet, oscillator, or interruption. The site and submucosal depth of airway involvement was variable. The most commonly affected anatomic site was the middle or thoracic trachea (56%). The common cause identified was severe ischemia to the airway mucosa and submucosa, occurring with profound birth asphyxia and/or shock. The presence of ischemia supports the concept that decreased tracheoperfusion may be an important factor in the development of tracheobronchial abnormalities.

Apgar Score

Four-year experience with rapid bone marrow chromosome analyses in newborns.

Decisions surrounding management of the profoundly ill and seriously malformed neonate involve many ethical dilemmas, as well as concern for the family and the quality of the infant's life. The more information available to parents and clinicians the better informed any decision can be regarding surgical intervention, life-support systems, or extraordinary resuscitative efforts. To provide accurate data in an appropriate time frame, a rapid analysis of bone marrow chromosomes can be of value. Over four years, 42 cases were studied by this method, yielding diagnostic information within four hours. Twenty-three neonates had trisomic karyotypes. Only one false-negative test result was recorded, and no false-positive interpretations were made. Recognition of a normal karyotype provided important clinical information for pursuing vigorous therapy and was reassuring to parents.

Abnormalities, Multiple

Interstitial deletion of (17)(p11.2p11.2) in nine patients.

We describe a new and distinct syndrome involving an interstitial deletion of short arm of chromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high-resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.

Abnormalities, Multiple

MURCS association.

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Abnormalities, Multiple

Nephroblastomatosis and deletion of 11p. The potential etiologic relationship to subsequent Wilms' tumor.

Both nephroblastomatosis and deletions of the short arm of chromosome 11 (11p-) have been associated independently with Wilms' tumor. The finding of 11p- in a specimen of nodular renal blastema in the currently described patient represents a previously unknown association with this chromosomal lesion. The possibility that 11p- produced an abnormal renal substrate (nephroblastomatosis), upon which the action of a second postzygotic genetic alteration led to Wilms' tumor, is considered. It is suggested that, in the present case, tumorigenesis may have been the result of two postzygotic events, one of which may have been postnatal. Recent cytogenetic observations in both Wilms' tumor and retinoblastoma support such an hypothesis.

Child

Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome.

An 18-year-old mentally retarded male with the Martin-Bell syndrome was fragile X positive. He died suddenly with viral pneumonia and myocarditis. At autopsy, generalized tubular hypoplasia of the aorta and a mild coarctation were discovered. The base of the mitral and tricuspid valves showed striking aberrations in elastin distribution and structure by light microscopy. Local collagen alterations were also noted. Comparable changes were seen in the skin elastin as well as a severe depletion of acid mucopolysaccharides. These changes suggest a structural disruption underlying the clinical connective tissue problems in some patients with the fragile X syndrome.

Adolescent

Congenital pseudarthrosis of the ulna: a report of two cases and a review of the literature.

Two cases of congenital pseudarthrosis of the ulna in patients with neurofibromatosis were followed up for 15 and 8 years, respectively. In both cases conventional bone grafting failed. The solution in one case was production of a one-bone forearm. In the other, osteotomy of the radius, resection of the ulnar pseudarthrosis, and stabilization of the distal radioulnar joint achieved a good result. The literature suggests that free vascularized bone grafting, electrical stimulation, formation of a one-bone forearm, or osteotomy of the uninvolved bone with or without resection of the pseudarthrosis should be considered as treatment alternatives.

Adolescent