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Biomedical subjects

H J Kaufmann

Publications and source records attributed to H J Kaufmann.

At least 19 recordsLinked to original sources
PubMed1993

Cranial ultrasound findings in aspartoacylase deficiency (Canavan disease).

Canavan disease (CD) is a rare leukodystrophy which is lethal in infancy or early childhood. The underlying biochemical abnormality in CD is a hereditary deficiency of N-aspartoacylase transmitted in an autosomal recessive fashion. We report on the ultrasound (US), CT, and MRI findings of three unrelated boys with biochemically confirmed CD. At 6 and 9 months of age, two CD patients with rapid neurological deterioration showed markedly enhanced acoustic attenuation of the white matter with the exception of the corpus callosum, giving the appearance of a reversed pattern of echogenicity of cortical gray and subcortical white matter. While gyri and sulci had an almost normal US appearance, the periventricular gray matter featured prominently with increased echogenicity. In contrast another CD patient with a more protracted course had ventricular enlargement when examined by US at 5 and 9 months but no alteration in white matter echogenicity. MRI showed impaired myelinization in all three patients with Canavan disease.

Canavan Disease↗
PubMed1990

Pulmonary arteriovenous fistula: ultrasonographic approach.

Report of a pediatric case with pulmonary arteriovenous fistula (PAVF) in hereditary hemorrhagic teleangiectasia (HHT), primary suspected by ultrasound. There is a characteristic sonographic feature of the complex type of PAVF revealing septations in contrast of the simple type. The diagnosis was established by angiography.

Arteriovenous Fistula↗
PubMed1989

Therapeutic approach to ingested button-type batteries. Magnetic removal of ingested button-type batteries.

Button-type batteries ingested by 13 children were removed from the esophagus and the upper gastro-intestinal tract by means of the FE-EX "OGTM-technique". An initial radiogram from the nasopharynx to the anus was performed. We used the FE-EX tube magnet with a cylindric Vacomax/Vacodym magnet. In all cases the button type battery was easily detected and retracted under fluoroscopic control with the magnet. All patients tolerated the procedure without subjective complaints and were discharged soon without a need of anesthesia, surgery/endoscopy or more radiography. The FE-EX "OGTM" procedure is a relatively non-invasive approach to a potentially catastrophic pediatric problem.

Child↗
PubMed1989

Nonionic contrast media in gastrointestinal studies in newborns and small infants.

Since January 1983, 431 patients were examined by oral or rectal application of nonionic contrast medium for gastrointestinal studies. The contrast medium was uniformly well tolerated, even by severely ill preterm babies and infants. We present a review of our experience and a list of indications for the use of nonionic contrast media in gastrointestinal studies. In addition, the urinary iodine concentration of eight patients was examined after oral application of nonionic contrast medium in order to evaluate the resorption of the substance.

Administration, Oral↗
PubMed1987

Arteriovenous malformation of the great cerebral vein (of Galen) in a newborn. Diagnosis by ultrasound and digital subtraction angiography.

This is a report of a case with an arteriovenous (a.v.) malformation of the great cerebral vein. Applicable diagnostic procedures are reviewed. The initial diagnostic procedure in the approach to an a.v. malformation of the great vein of Galen is cerebral ultrasound. The findings in our patient are compared with those reported in the literature.

Cerebral Angiography↗
PubMed1987

Osteomalacia of the mother--rickets of the newborn.

During the last 4 years we observed four cases of neonatal rickets. The mothers of the infants suffered from osteomalacia for 1-3 years prior to its diagnosis shortly after the birth of their children. All four infants were born with craniotabes, and one infant had, in addition, a radial fracture. The diagnoses were confirmed by radiological and laboratory tests which revealed a rarefied bone structure, decreased serum 25-hydroxy-vitamin D and increased alkaline phosphatase levels in all patients. The disorder regressed under low-dose vitamin D3 therapy. As osteomalacia seems to be predominant in oriental women living in Berlin, it is necessary to consider vitamin D deficiency when clinical symptoms of this disease arise and to treat these women at least during pregnancy.

Cholecalciferol↗
PubMed1987

Pulmonary alveolar microlithiasis in pediatric patients--review of the world literature and two new observations.

Report of two new pediatric cases of pulmonary alveolar microlithiasis (PAM). PAM is a rare disease of unknown etiology; not more than 38 cases have been reported aged less than 18 years. The essential features of this disease are (1) a characteristic radiographic appearance of a sand-like opacity of both lungs and linear densities like "beads on a string" along the heart, pleura and interlobar fissures; this is best visualized by fluoroscopy in combination with magnification technique; (2) extremely few clinical signs and almost no laboratory abnormalities.

Calcinosis↗
PubMed1987

[Sonography of the hip joint in skeletal dysplasias and chromosome disorders].

The preliminary results of ultrasound of the hip in patients with skeletal dysplasias and chromosomal aberrations are described. Pathology of the hip joint can be demonstrated by ultrasound; especially the entities with abundant cartilage can be visualized by sonography. Ultrasound of the hip is a valuable method in the diagnosis of skeletal dysplasias complementary to plain x-ray surveys.

Bone Diseases, Developmental↗
PubMed1987

[Removal of swallowed metallic foreign bodies by orogastric magnetic intubation].

Foreign bodies with metal content ingested by 16 patients were removed from the upper gastrointestinal tract by means of a magnet inserted into the end of orogastric tube. In only one case did the foreign body uncouple from the orogastric tube-magnet arrangement during retrieval. The procedure is an alternative to endoscopic or surgical removal in some cases of metal foreign body ingestion.

Child↗
PubMed1987

Nonsteroidal anti-inflammatory drugs activate quiescent inflammatory bowel disease.

Four patients with quiescent inflammatory bowel disease had prompt exacerbations when given nonsteroidal anti-inflammatory drugs. Nonsteroidal anti-inflammatory drugs can have noxious effects on the distal intestine as well as on the proximal gut. Eight previous cases of exacerbation of ulcerative colitis have been reported, as have instances of de-novo colitis and ileitis in persons treated with nonsteroidal anti-inflammatory drugs who did not have preexisting inflammatory bowel disease. Nonsteroidal anti-inflammatory drug ingestion should be considered in the differential diagnosis of inflammatory bowel disease. These drugs should be administered to patients with inflammatory bowel disease only after consideration of their possible harmful effects.

Adult↗
PubMed1986

Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results.

Comparative radiologic/pathologic study of 45 newborns with primary and secondary pulmonary hypoplasia is presented and 43 cases were proven at autopsy. From 9 cases with primary pulmonary hypoplasia, 7 could be identified by 3 independent observers on chest radiographs. The roentgen criteria of primary pulmonary hypoplasia are evaluated and should serve in future to diagnose this condition clinically.

Humans↗