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Hanne Jensen

Publications and source records attributed to Hanne Jensen.

8 recordsLinked to original sources
PubMed2006

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?

We report on a patient with blepharophimosis who after unsuccessful surgery developed progressive corneal vascularization. The patient had conductive hearing loss, acroosteolysis of the phalanges, arthropathy, loss of subcutaneous fat of the hands, feet and face, and oligospermia. He had had spontaneous pneumothorax four times. We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis-ichthyosis-deafness syndrome, Hajdu-Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.

Acro-Osteolysis↗
PubMed2004

Processing of chicken progastrin at post-Phe bonds by an aspartyl protease.

Prohormones mature to biologically active peptide hormones through posttranslational modifications, which include endoproteolytic cleavages. Cleavages at mono- and dibasic sites are well characterized, and several of the responsible prohormone convertases have been identified. There is, however, evidence that endoproteolytic maturation occurs also at other sites. Among these, post-Phe cleavage occurs in the maturation of chicken progastrin, where the processing to gastrin-30 has been examined in detail. In this study we have characterized an endoprotease of the aspartic acid protease family in chicken and human tissue capable of cleaving at the Phe site. Enzymatic activity was monitored by radioimmunoassays using antibodies specific for the N- and C-termini exposed after cleavage. Analysis showed that only pepstatin, a specific inhibitor of aspartic proteases, inhibited the enzyme. The pH optimum of the enzyme ranged from pH 2 to pH 5. Amino acid substitution from Phe to Ala in the substrate completely abolished enzyme activity. The endoproteolytic activity was identified in chicken antrum and pectoral muscle as well as human cardiac and prostate extracts, suggesting that the enzyme has widespread biological functions. Experiments using recombinant cathepsin D and E indicated that neither is responsible for the endoproteolytic cleavage of chicken progastrin at post-Phe bonds.

Amino Acid Sequence↗
PubMed2004

Surveillance for retinopathy of prematurity in a Copenhagen high-risk sample 1999-2001. Has progress reached a plateau?

PURPOSE: As part of a current quality control to evaluate ophthalmic findings in two combined central Copenhagen neonatology centers for birth years 1999-2001, and to compare the selected sample with data of the national register for childhood visual impairment. METHODS: In a prospective design to report on 372 infants mainly under regular surveillance for retinopathy of prematurity (ROP) in the stratified functional unit made up by the neonatal wards of Righospitalet (RH) and Hvidovre Hospital (HH). The median neonate under ophthalmic surveillance in the two wards (screening limits usually 32 weeks/1750 g) was given by gestational age (GA) and birthweight (BW) values of 27.3 weeks/907 g and 30.3 weeks/1420 g. respectively. Feedback regarding outcome was secured for those transferred to regional centres. RESULTS: The overall frequency of ROP was 38.5% in the RH (n=252) and 10.8% in the HH sample (n=120). From a peak share above 60% in those <26 weeks/750 g at delivery, the incidence of ROP showed a regular decrease with decreasing immaturity. The centralized retinal ablation therapy for advanced ROP was given to a total of 29, with birth year 2001 unexpectedly showing a peak of 17 cases. Seven of the 29 children treated are now in the register for visually impaired, mainly due to low vision. Fourteen of the 29 had been very small for gestational age. CONCLUSIONS: Supported also by recent regional Danish data, the apparent progress in the fight against ROP over many years seems to have come to a halt. Except for the continued increased survival of extremely preterm babies we have no obvious neonatological indication to explain the suggested 'adverse' trends.

Birth Weight↗
PubMed2003

The prevalence and incidence of visual impairment in people of age 20-59 years in industrialized countries: a review.

BACKGROUND: Reviews on the prevalence of blindness and low vision in persons of age 20 to 59 years are lacking. We have therefore carried out a review based on a Medline search. METHODS: The review was confined to epidemiological studies performed in Western Europe, North America and Australia covering the age group 20 to 59 years where there were comparable definitions of blindness and low vision according to the IAPB and WHO classification of blindness and low vision. RESULTS: Three surveys, four register studies and two studies based on multiple sources matched our selection criteria. Blindness and low vision are described separately. Blindness: Only one study, based on multiple sources, covered the whole age group 20 to 59 years. In this study the overall prevalence of blindness was 0.08%. The prevalence of blindness was 0.04% among those 20-39 years old, whereas in the age group 40-59 years it was 0.1% in two surveys and one study on multiple sources. However, the prevalence was higher, 0.5% among whites and 0.7% among colored, in The Baltimore Eye Study. The definition of blindness was similar in all three studies. Low vision: Three studies provided data on the prevalence of low vision in the age group 20-59 years, although the number of cases was very small. In one study the prevalence of a visual acuity < or = 6/24 to 6/48 was 0.07% and in another the prevalence was 0.17% using < 6/18 to 0.5/60. No person with low vision was found in the third study. CONCLUSIONS: The existing epidemiological data on blindness and low vision among adults aged 20 to 59 years are insufficient. Epidemiological studies based on multiple sources are needed for the study of rare conditions such as blindness and low vision.

Adult↗
PubMed2003

Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

PURPOSE: To present the ophthalmic manifestations of patients with congenital disorder of glycosylation type Ia (CDG-Ia) due to the frequent R141H/F119L PMM2 genotype. METHODS: Ophthalmic records of 23 patients (age: 10 months to 20 years) were evaluated. They had had at least one ophthalmic reexamination. RESULTS: Measurements of refractive error showed that 18 patients were myopic, two were hypermetropic, and three could not be measured. Serial measurements in 12 patients indicated a progression towards myopia of 0.80 diopters (D) per year. Congenital esotropia and delayed visual maturation (DVM) were consistent findings. Two children developed good visual acuity (VA), 16 had low vision, and five were legally blind. Pallor of the optic disc was noted in five patients. Electroretinography (ERG) performed in nine patients showed reduced rod responses, while cone responses were only slightly reduced. CONCLUSIONS: The present study illustrates the difficulties in examining severely disabled children. Consistent ophthalmic manifestations of CDG-Ia patients due to the R141H/F119L genotype were congenital esotropia, DVM, and a reduced rod response in ERG-examined patients. The vast majority of patients had reduced VA and developed myopia. We speculate that there is a relationship between the glycosylation defect in CDG-Ia and the development of myopia. We recommend that CDG-Ia patients be followed annually by an ophthalmologist.

Acyl Carrier Protein↗
PubMed2002

Vigabatrin and retinal changes.

PURPOSE: Vigabatrin is an effective antiepileptic drug but visual field constriction (VFC) is found to be a severe side-effect. The aims have been to investigate whether visual field constriction (VFC) is related to changes in the electroretinography (ERG). METHODS: Twenty patients with localisations related epilepsy of whom one half had received vigabatrin were subjected to examination without informing about the treatment given. The eye examination included Goldmann perimetry and ERG. RESULTS: All the patients had normal visual acuity. A total of three patients (30%) in the vigabatrin group and none in the control group were found to have VFC. In the vigabatrin group ERG examination were normal in one case, in five cases there were changes scotopic, photopic and in the oscillatory potentials (OP), while the remaining four had changes in two of these parameters. OPs were abnormal in eight of 10 patients. Of the three patients with VFC all had changes in ERG. The four patients with the most severe abnormalities in ERG had received high daily doses of vigabatrin (4 - 6 mg) in a period. In the control group no abnormality was observed in five cases, and in the remaining five changes were present in one or two of the potentials. CONCLUSION: It is found that 30% of patients treated with vigabatrin, develop VFC, and none in the control group. Similarly more patients in the vigabatrin group had changes in the ERG as compared to the control group, and the number of abnormal potentials are significantly higher among patients with VFC compared to those without. But the finding of abnormal ERG results is not synonymous with VFC, and this is important to bear in mind when examining patients that cannot cooperate to a VF examination. An individual sensitivity to vigabatrin is supposed, but severe ERG changes occurred in all patients having had high daily doses > or = 4 g.

Adolescent↗