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Biomedical subjects

R Huenges

Publications and source records attributed to R Huenges.

At least 19 recordsLinked to original sources

[Ophthalmoplegia interna after varicella].

We present the case of a 5 1/2 year old girl. 14 days after the onset of the typical rash, the right pupil was dilated and fixed to light. Her manifest refraction was O.D. +1.0 dpt. No signs of iridocyclitis could be found, the fundus was normal. One year later, the pupil of the right eye was still dilated, whereas accommodation had slightly improved (+0.5 dpt). Internal ophthalmoplegia complicating chickenpox is rare, 13 cases have been reported so far.

Accommodation, Ocular

[Croup and air pollutants: results of a two-year prospective longitudinal study].

The Reutlingen/Tübingen/Rottenburg region in Baden-Württemberg is characterized by medium and small sized towns and rural areas. In 1986/87 875 cases of croup were registered there by the treating physicians during a 24-months period. In consideration of meteorological and virological "disturbing variables" the influence of the measured air pollution by SO2, NO, NO2, CO, ozone and dust on croup frequency was computed by means of statistical regression methods. For the months September till March, the main manifestation period of croup, weak but statistically significant influences of the daily means of NO and NO2 were found, for the whole year influences of NO, NO2, and CO. During the winter months temperature correlates positively and velocity of wind negatively, both statistically with significance, to croup frequency. The essential conditions of croup are individual and familiar disposition on the one hand, virus infections on the other. Air pollution of a concentration like given in the investigated region was found to be a weak additional factor that favours the manifestation of croup.

Air Pollutants

A case of combined Farber and Sandhoff disease.

We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured fibroblasts, impaired ceramide degradation on loading of cultured fibroblasts with radioactive sphingomyelin, profoundly decreased ceramidase activity in fibroblasts as well as total beta-hexosaminidase activity in fibroblasts and serum, absent hexosaminidase A and B bands on cellogel zymograms, increased urinary oligosaccharide excretion of the Sandhoff disease type, and a partial reduction of ceramidase and total beta-hexosaminidase activities in fibroblasts from her father. A diagnosis of combined Farber and Sandhoff disease was made. The effect of both enzyme deficiencies on the clinical manifestations in this patient and the genetic basis of this combination require further studies.

Biopsy

Osteomyelitis in tropical pyomyositis: a case report.

We report a case of acute tropical pyomyositis in a German girl living in Tanzania. The course of the disease was complicated by osteomyelitis affecting the humerus, which is unusual in tropical pyomyositis. Diagnosis of the osteomyelitis was difficult because a scintigram showed depressed bone activity during the isotope influx and bloodpool phase. The bone phase was abnormal with irregular hypo- and hyperfixation of tracer.

Child

[Prospective one-year epidemiologic longitudinal study of air pollutants and the incidence of croup].

Among a population of 18,175 children below 7 years of age in medium sized towns and rural areas in south-western Germany 552 (3.03%) cases of croup were registered during a 12 months period in 1984-85 by their physicians. Distributions according to months, sex and age at the onset of the disease were the same as in other recent investigations: The level of the air-pollution measured (SO2, NOx, CO, CO2, ozone and dust) was low (highest monthly means in microgram/m3: SO2 88, NO2 73, NO 119, dust 41). There was no relevant influence of the degree of air pollution on croup-frequency. The rise of croup-frequency shortly after a period of several days of higher pollution was accompanied by an influenza epidemic as proved by virus isolations.

Air Pollutants

[Bilateral middle ear tuberculosis and morphologically unusual lung tuberculosis in an 11-year-old boy].

A 11 year old boy presented with chronic otorrhea and hearing impairment. After repeated tympanorevision macroscopic findings suggested the presence of middle ear tuberculosis. Chest X-ray revealed unusual abnormalities which in conjunction with normal pulmonary function and overall well-being did not support concurrent pulmonary tuberculosis. However, microbiological investigations verified this diagnosis in both sites, and proper tuberculostatic treatment proved successful.

Biopsy

Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.

Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.

Abnormalities, Multiple

[Teratogenicity of anticonvulsant drugs (author's transl)].

Investigations were done on 111 children of epileptic mothers who used anticonvulsants in 93 pregnancies and none in 18 pregnancies. Hydantoinbarbiturate embryopathy was found in 7.1% after hydantoin monotherapy, in 17.6% after combination of hydantoin and barbiturates or primidone. No embryopathy was seen in children of untreated epileptic mothers. Children of untreated and treated epileptic mothers had an approximately equal frequency of marked single malformations and cerebral damage without dysmorphia. However, malformation and cerebral damage without dysmorphia was found significantly more frequently in children of mothers on anticonvulsant drugs with convulsions during pregnancy as compared to children of mothers without convulsions. Single manifestations and cerebral damage without dysmorphia are probably not caused by anticonvulsants but by convulsions during pregnancy.

Abnormalities, Drug-Induced

[In vitro tests as a tool for examination of the thyroid function in childhood and newborn stage (author's transl)].

The concentration of hormone iodine, total thyroxine and the T3-test were determined in children from the newborn-period until school-age. Hormone iodine and total thyroxine increased markedly from day 1 to 6 of life and decreased after day 21. This decrease continued until preschool-age. The T3-value was highest in the newborns and showed no significant changes during the following ages. The higher blood levels of thyroid hormone in infants during the neonate period have to be taken into account when distinguishing between hypo- and hyperthyroid patients.

Age Factors

Urinary androgen response of 8 girls with precocious puberty given cyproterone acetate.

The effects of cyproterone acetate (CA), daily oral administration of 100 mg/m2, on the levels of urinary androgen excretion and velocity of skeletal maturation were studied in 8 girl patients with precocious puberty. Under therapy, testosterone excretion fell within a short time, and velocity of skeletal maturation normalized when the treatment was prolonged. Other beneficial effects such as stoppage of vaginal bleeding and no further growth of breast size and public hair, were also observed. Of 3 subjects, who were given CA for a period of 2--3 yrs, 2 showed further increments in testosterone excretion levels.

Androgens