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Biomedical subjects

D G Frankel

Publications and source records attributed to D G Frankel.

9 recordsLinked to original sources
PubMed1998

Atypical manifestations of two cases of trisomy 9 syndrome: rethinking development delay.

Trisomy 9 syndrome is characterized by "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous systems. With the exception of one reported case study, all surviving infants have had severe mental impairment. The prospect of severe mental retardation often overwhelms parents who are faced with prenatal diagnosis of trisomy 9. We report on two new cases of mosaic trisomy 9, both of whom are only mildly developmentally delayed. One patient presented with the distinctive facial appearance, large fontanels, and joint abnormalities. The other had none of the typical congenital abnormalities. However, the patient was found to have a congenital heart defect and hypoplastic left heart syndrome, which to our knowledge has not been reported previously in the trisomy 9 syndrome. When these two patients are added to the published patients with this syndrome, there appears to be a range of manifestations, especially with respect to mental status, which has not fully been recognized.

Abnormalities, Multiple↗
PubMed1997

Massive osteolysis of the skull base.

Gorham's vanishing bone disease is a rare disorder characterized by massive osteolysis. Its etiology is unknown. We report the case of a 14-year-old girl with an unusually aggressive course and extensive involvement originating within the skull base. To our knowledge this pattern has not been described previously. MR findings are discussed.

Adolescent↗
PubMed1991

Case report 654: Disseminated tuberculosis.

A case of disseminated tuberculosis with a psoas abscess and associated destruction of bone in a 28-year-old man has been presented. Multiple skeletal lesions and hilar adenopathy were observed. The initial diagnosis from pathological specimens was equivocal, since acid-fast bacilli were not demonstrated. However, special stains of biopsy specimens subsequently confirmed the diagnosis. The initial radiographs suggested disseminated malignancy. Good therapeutic results were obtained, utilizing surgical and chemotherapeutic methods. This case demonstrates the ability of disseminated tuberculosis to mimic other disease processes and shows the difficulty that may exist in establishing a diagnosis of tuberculosis, even with biopsy specimens.

Adult↗
PubMed1989

Hyperextension injuries of the cervical spine. Magnetic resonance findings.

Eleven patients with acute cervical hyper-extension injury underwent magnetic resonance examination. Magnetic resonance was particularly helpful in diagnosing both intrinsic cord contusion and extradural compression. When spinal cord compromise was present, surgery was undertaken without resort to myelography.

Adult↗
PubMed1982

Probabilistic assignments of sentence relations on the basis of differentially weighted interpretive cues.

Recent treatments of comprehension have emphasized the role of surface structure characteristics. In many circumstances, meanings that are inferred on the basis of such cues will not be deterministic. This study investigated a probabilistic system of sentence comprehension. Hebrew-speaking university students interpreted utterances that varied and balanced the contradictory and complementary effects of three interpretive cues. Sentence interpretations were systematically affected by the relative weights of cues that supported and opposed different interpretations. Adults therefore seemed to deploy a probabilistic strategy of assigning internal relations to a preferred alternative, a greatest composite of component likelihoods. While the present treatment emphasized a syntactic level of processing, it was suggested that the probabilistic strategy could easily accommodate pragmatic and semantic effects as well. The probabilistic strategy implies that given a conflict between interpretive cues, a decision needs to be made between alternative assignments of internal relations. It was therefore suggested that ambiguous and unambiguous utterances typically may be processed in a similar fashion; for both, more than one meaning may be processed at least in part before a single probabilistic interpretation is finally assigned to the utterance.

Cues↗
PubMedDate not supplied

Hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLHS) is a complex combination of cardiac malformations that probably results from multiple developmental errors in the early stages of cardiogenesis and that, if left untreated, invariably proves fatal. A variety of chest radiographic findings are seen in patients with HLHS, including an enlarged cardiac silhouette (notably a prominent right atrium), pulmonary venous hypertension, an atrial septal defect, and valvular stenosis or atresia. The recent evolution of palliative surgical procedures (modified Norwood procedure, bidirectional cavopulmonary shunt, modified Fontan procedure, aortic valvuloplasty, heart transplantation) has increased the survival rate in children with HLHS. Echocardiography allows accurate assessment of the size and location of the ductus arteriosus, the hemodynamics of the aortic root, the patency and size of the foramen ovale or atrial septal defect, and the presence of a ventricular septal defect to help determine whether surgical intervention is appropriate and, if so, to facilitate planning. Pediatric radiologists now view radiologic images obtained in patients with HLHS before surgical intervention and at important intervals during treatment. Familiarity with the malformations that characterize HLHS and the surgical procedures used to enhance postnatal survival will help pediatric radiologists provide better care for patients with this relatively common pathologic condition.

Coronary Angiography↗