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Biomedical subjects

J Herrmann

Publications and source records attributed to J Herrmann.

At least 127 records · Page 7Linked to original sources
PubMed1985

Ichthyosis follicularis with alopecia and photophobia.

We treated two unrelated boys with ichthyosis follicularis, a rare skin disorder characterized by extensive noninflammatory spiny follicular hyperkeratoses, severe photophobia, and generalized noncicatricial alopecia. This disorder must be differentiated from keratosis follicularis spinulosa decalvans; ulerythema ophryogenes; keratosis pilaris rubra atrophicans faciei; atrichia with papular lesions; atrophodermia vermiculata; and keratitis, ichthyosis, and deafness syndrome, all of which share some clinical features. Ichthyosis follicularis with alopecia and photophobia appears to be a familial disorder, but too few cases have been reported to establish the exact mode of inheritance.

Alopecia↗
PubMed1983

The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971.

We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.

Abnormalities, Multiple↗
PubMed1983

Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins.

We report on 11 cases of amyoplasia in one of identical twins. In total, 135 patients with amyoplasia were ascertained from a study of 350 patients with multiple congenital joint contractures (arthrogryposis). These 11 cases of identical twins with amyoplasia represent 8% of our patients with amyoplasia. At least 18 sets of twins with congenital contractures have been reported previously. However, only four of these appear to involve identical twins discordant for amyoplasia. Thus, 15 cases in which only one of identical twins are affected with amyoplasia have been identified.

Adolescent↗
PubMed1983

Disinfection of respirator tubing: a comparison of chemical versus hot water machine-assisted processing.

A comparison of machine-assisted chemical disinfection, using a glutaraldehyde solution, and machine-assisted hot water disinfection was made by placing a large inoculum (approximately 10(7) colonies of Pseudomonas aeruginosa or Acinetobacter calcoaceticus var. anitratus) in sets of tubing before processing. Machine-assisted chemical processing proved to be the most efficient method with a disinfection failure rate of 6 per cent (two positive tubes out of 35). Machine-assisted hot water processing had a disinfection failure rate of 83 per cent (44 of 53 tubes were not successfully disinfected). Some of the tubes that were disinfection failures were dried in a hot air cabinet after the initial sampling, which further reduced the colony counts in the tubing but did not totally eliminate growth except in one tube. The colony counts after drying, showed that A. anitratus was 15 per cent more sensitive to hot air drying than Ps. aeruginosa, but this was not a statistically significant reduction.

Acinetobacter↗
PubMed1983

Thyroid function in patients with proteinuria and normal or increased serum creatinine concentration.

The thyroid function of 13 patients with proteinuria and normal serum creatinine level (Group 1) and 15 patients with proteinuria and increased creatinine level (Group 2) was investigated. The daily urinary T41- and T3 excretion was much higher in Group 1 patients than in Group 2 patients (37.1 +/- 25.9 nmol T4 vs 17.5 +/- 8.7 nmol T4, 3.3 +/- 1.6 nmol T3 vs 1.1 +/- 0.8 nmol T3, respectively) and correlated in both groups with the protein loss. None of the patients suffered from hypothyroidism as a consequence of this hormone loss. Although the mean serum T4-, T3-, FT4-, FT3-, TBG- and TBPA concentrations in both groups of patients were within the normal range, the urinary hormone loss appeared to influence these values considerably. It was striking that the rT3 concentration in the patients with the highest hormone loss was frequently less than 0.08 nmol/l, the lower limit of detectability. The basal TSH levels in serum of the nephrotic patients were similar to those of normal individuals. The thyroid function of patients with proteinuria accompanied by retention of creatinine due to renal failure was more difficult to assess because different pathological mechanisms may exert their influence on the thyroidal hormone secretion as well as on the peripheral hormone metabolism.

Aged↗
PubMed1982

[Clinical significance of free serum thyroxine--comparative studies with 5 methods].

In order to check whether the serum free T4 as obtained with commercially available kits can substitute for total T4 measurements in the routine diagnosis of thyroid disorders, serum FT4 was simultaneously assayed using 5 different methods (Amerlex; GammaCoat; Immo-Phase; LiquiSol; T4/TBG) in 152 subjects. Overt hyper- and hypothyroidism were readily distinguished from euthyroidism with each method. Discrepant FT4 results, however, were obtained with these assays in clinically euthyroid subjects exhibiting various extrathyroidal disorders (TBG-deficiency or -excess, late pregnancy, serious illness, T4 administration). Since it is as yet impossible to decide which of the commercial kits will yield methodologically and physiologically reliable results, a substitution of total T4 measurements by FT4 cannot yet be recommended in the laboratory diagnosis of thyroid disease.

Female↗
PubMed1981

Thyroid function and thyroid hormone metabolism in elderly people. Low T3-syndrome in old age?

T4-, T3- and reverse-T3 concentrations were measured in the sera of 365 subjects beyond the age of 65 in order to evaluate if the decrease of serum T3 frequently observed in old age can be attributed to old age per se or to concomitant nonthyroidal disease. The results obtained from a carefully selected healthy group of elderly people show that 1) total and free T3 levels are lower in senescence but well within the range for euthyroidism in younger healty controls;2) the decrease of serum T3 is more pronounced and occurs earlier in healthy old males than in females, so that for subjects over the age of 75, the upper limit for euthyroidism has to be adjusted by 10% in women and by 20% in men; and 3) there is no low T3 syndrome characterized by decreased serum T3 and increased serum reverse T3, solely due to old age. Turnover kinetics have shown the daily production of T4 and T3 in old age to decrease by 20 micrograms and 10 micrograms, respectively, and an increased T3 metabolic clearance not to account for the reduction of serum T3 concentrations. Combined stimulation tests with TSH and TRH showed that the functional reserve of the thyroid gland to produce T3 is maintained in old age. The first step in the sequence of events may be seen in an impairment of TSH secretion leading to an adaptation of the amount of thyroid hormones to a reduced mass of metabolically active body tissue in old age.

Aged↗
PubMed1981

The dup(3q) syndrome: report of eight cases and review of the literature.

Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down-turned corners of the mouth, highly arched or cleft plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.

Abnormalities, Multiple↗
PubMed1981

Congenital cholinergic nervous system dysfunction in identical twins.

We report identical male twins with secretory diarrhea, craniofacial abnormalities often found in G syndrome, hypospadias, and abnormalities of the cholinergic nervous system including achalasia, decreased tearing, corneal hypesthesia, positive Mecholyl test (eye and esophagus), and decreased sweating. The children also lacked fungiform papillae but were clinically distinct from patients with either the Riley-Day syndrome or acquired dysfunction of the autonomic nervous system. Assessment of autonomic nervous system function should be considered in infants with recurrent diarrhea or swallowing disorders or in children with morphologically characteristics suggesting G syndrome.

Abnormalities, Multiple↗
PubMed1981

Secondary hypothyroidism in severe non thyroidal illness?

In severely ill patients of an intensive care unit overt peripheral thyroid hormone deficiency was noted in 22 of 33 subjects. The TRH-test was performed in 7 of these 22 patients and was negative in all. Thus, the laboratory data suggest secondary hypothyroidism. The laboratory diagnosis, however, could not be supported by clinical signs probably due to the short period of observation and to the strongly elevated body temperature of the respective patients. The pathogenetic mechanism is not clear. However, all patients developing secondary hypothyroidism were treated with dopamine and/or glucocorticoids, compounds known to inhibit pituitary TSH release and most of the patients had septic fever. A persistently "hypothyroid state" (total T4: 23 +/- 15 nmol/l, free T4: 6.1 +/- 3.2 pmol/l, total T3: 0.28 +/- 0.22 nmol/l, S.D.) is associated with a very poor prognosis. In view of the negative effects of a hypothyroid state, substitution of thyroid hormones must be considered in this situation.

Body Temperature↗