PubMed Health⌕ Search

Biomedical subjects

F Haverkamp

Publications and source records attributed to F Haverkamp.

61 records · Page 4Linked to original sources
PubMedDate not supplied

[X-chromosomal recessive hydrocephalus internus: a separate disease picture? 2 further case reports and review of the literature].

Two patients with X-chromosomal hydrocephalus internus (aqueduct stenosis, clasped thumbs, mental retardation and spasticity) habe been described. In both cases the family history revealed further affected relatives. The intra- and interfamilial variability of this rare X-chromosomal recessive disease will be demonstrated. In this context differentialdiagnoses like X-linked MASA syndrome and X-linked spastic paraplegia have been discussed on the basis of a variable expressivity of different mutations in the same gene.

Abnormalities, Multiple↗
PubMedDate not supplied

Nonimmune hydrops fetalis with galactosialidosis: consequences for family planning.

At the 28th week of gestation a hydrops fetalis was first detected by ultrasound. At birth a generalized hydrops with Hurler-like craniofacial dysmorphism, hepatosplenomegaly and a moderate dystostosis multiplex was noted. High urinary excretion of oligosaccharides and a severe deficiency of neuraminidase and of beta-galactosidase in cultured skin fibroblasts could be found. Thus, a rare early infantile type of galactosialidosis was diagnosed. The patient died at the age of 3 months because of cardiac failure. The consanguineous but otherwise healthy parents received genetic counselling for further pregnancies and have been informed about the possibility of prenatal diagnosis. In view of this possibility, the parents decided to have more children. In the second pregnancy a severe combined enzyme deficiency had been detected and the pregnancy interrupted. In the third pregnancy prenatal diagnosis revealed normal fetal enzyme activities. It resulted in a healthy female child and in the fourth pregnancy reduced but still in the heterozygote level enzyme activities had been found, a healthy boy was born.

Family Planning Services↗
PubMedDate not supplied

Intraocular pressure, safety and quality of life in glaucoma patients switching to latanoprost from adjunctive and monotherapy treatments.

PURPOSE: To evaluate efficacy, safety and quality of life in ocular hypertensive or open-angle glaucoma patients changed to latanoprost from previous therapy. METHODS: A prospective, multicenter, active-controlled design in which qualified patients had their previous therapy substituted for latanoprost and were followed for at least three months. RESULTS: In 1068 patients, latanoprost was continued 92% throughout the 36-month observation period. Latanoprost treatment reduced the intraocular pressure (1OP)(p < 0.001) when compared to previous monotherapies including: beta-blockers (-4.0 +/- 3.7 mmHg, 42%), alpha-antagonists (-3.9 +/- 3.0 mmHg, 14%), miotics (-3.8 +/- 3.5 mmHg, 2%), or carbonic anhydrase inhibitors (CAI) (-3.8 +/- 3.6 mmHg, n = 16%), and adjunctive therapy including: beta-blocker and CAI (-3.7 +/- 3.1 mmHg, n = 12%), alpha-agonist (-3.7 +/- 3.4 mmHg, n = 5%), or pilocarpine (-3.4 +/- 3.7 mmHg, n = 6%), or CAI and alpha-agonist (-4.6 +/- 6.4 mm Hg, n = 2%)(p < 0.0017). The most common adverse event with latanoprost was ocular allergy (1.5% incidence). Patients showed a preference for latanoprost for many systemic and ocular quality of life measures on a non-validated questionnaire (p < 0.05). CONCLUSIONS: In a clinical setting, patients who have their mono- and adjunctive therapy treatment substituted for latanoprost may on average experience reduced IOP, decreased side effects and increased quality of life measures.

Adrenergic beta-Antagonists↗
PubMedDate not supplied

Adjustment in conditions with short stature: a conceptual framework.

A major justification of extended indications for GH therapy in conditions with short stature is based on the objective of preventing or alleviating suspected psychosocial maladjustment. Despite more sophisticated research, results are still controversial concerning the actual seriousness of adjustment difficulties in various conditions with short stature, thus making it difficult to determine a patient's need for treatment. This paper discusses different concepts and assessment strategies of "adjustment" as a major source of the apparent heterogeneity among study findings, conclusions and treatment recommendations. A concise framework is developed that identifies and differentiates three hierarchical levels of research on adjustment in conditions with growth retardation: (1) stress exposure due to short stature, (2) quality of coping responses, and (3) occurrence of psychopathology. Choosing a particular research level and its corresponding measures may imply whether a high, medium or very low impact of short stature on adjustment is found, and the need for treatment that is inferred. The integration of these different research approaches within an integrative model may help to resolve apparent inconsistencies among empirical studies and reveal sources of confoundation due to other, short stature independent risk factors associated with the particular underlying growth disorder. The key terms of the suggested model are transformed into a clinical guideline for psychological assessment in patients with growth retardation and into three key criteria for the decision making process on extended indications for GH treatment with respect to the improvement of psychosocial adjustment.

Adaptation, Psychological↗
PubMedDate not supplied

[Sialidosis and galactosialidosis as the cause of non-immunologic hydrops fetalis].

Two cases of non-immunological hydrops fetalis (NIHF) presenting with massive ascites are reported; in both patients an oligosaccharid-pattern in the urine typical for sialidosis resp. galactosialidosis was found. The cerebral sonography of both patients showed streaky echo enhancement in the region of the thalamostriatal vessels, which was interpreted as calcification of the vessels. The courses of the patients were characterised by recurrent infections, hepatosplenomegaly and myoclonus. Relevant literature reports on a large variability in the clinical appearance of oligosaccharidoses. The diagnosis of sialidosis is confirmed in cultured fibroblasts by the deficiency of alpha-N-acetylneuraminidase and, in case of galactosialidosis by the additional lack of beta-galactosidase. The precise diagnosis in NIHF is of increasing interest for prenatal diagnostic as well as for neonatological management.

Brain↗