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Biomedical subjects

T Jansen

Publications and source records attributed to T Jansen.

At least 19 recordsLinked to original sources
PubMed2006

Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.

Fabry disease is an X-linked lysosomal disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. We report on a 32-year-old female patient with an 8-year history of vascular lesions on the hips and periumbilical region and a presumed Fabry disease without positive family history. Ophthalmologic evaluation revealed whorl-like corneal opacities. Echocardiography revealed myxomatous degeneration and prolapse of the mitral valve. DNA analysis of the alpha-galactosidase A gene confirmed the diagnosis of Fabry disease, showing a de novo point mutation at position 691 of exon 5. The patient is now obtaining intravenous enzyme replacement therapy with agalsidase alfa and remains without drug-related reactions.

Adult↗
PubMed2006

[Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy].

HISTORY AND ADMISSION FINDINGS: A 32-year-old woman with bilateral corneal opacities was at 9 years of age diagnosed to have reduced activity of the enzyme alpha-galactosidase A. She was admitted to our hospital because of skin lesions that had developed over the last 8 years. INVESTIGATIONS: The clinical features included angiokeratomas on the buttocks, hips, and periumbilical region, whorl-like corneal opacity (cornea verticillata), and mitral valve prolapse. Activity of alpha-galactosidase A was reduced to about a quarter of the normal value. Histological examination revealed lipid deposits within the endothelial cells of the skin. Molecular analysis of the alpha-galactosidase A gene revealed a point mutation at nucleotide-position 691 in exon 5 (p.Asp231Asn). TREATMENT AND COURSE: Enzyme replacement therapy with agalsidase alfa 0.2 mg/kg body-weight, infused over 40 min every other week, was initiated. So far no side effects due to the infusion therapy have been noted. The therapeutic success (reduction of lipid storage) cannot be assessed as yet. CONCLUSION: Fabry disease results from deficient activity of the enzyme alpha-galactosidase A. Affected (hemizygous) males often show the complete spectrum of symptoms and signs and have a deficient alpha-galactosidase A activity. Occasionally milder oligosymptomatic courses are observed, when residual enzyme activity is present. In contrast to previous belief, heterozygous females may be affected in the same manner as hemizygotes and may also have a significantly reduced enzyme activity.

Abdomen↗
PubMed2006

[Childhood acne. Clinical expression, etiology, and relationship to juvenile acne].

Childhood acne has different clinical expressions which may be present from birth or manifest within the first weeks of life or after the third to sixth month of life. The condition may occur as a physiological phenomenon or may be pathological and require endocrinologic evaluation and treatment. It may be induced by drugs or ointments or due to intoxication. Severe courses with a tendency to scarring in childhood may be observed. Childhood acne may persist and develop into juvenile acne. It is likely that childhood acne may represent a risk factor for the development of severe acne in puberty.

Acne Vulgaris↗
PubMed2005

[Clinical variants of acne].

Acne is a very common dermatosis with characteristic clinical features. It is a polymorphic disease. The clinical expression ranges from non-inflammatory closed and open comedones to inflammatory papules, pustules, and nodules. Most patients have a mixture of non-inflammatory and inflammatory lesions, although some have predominantly one or the other. Acne varies in severity from a very distressing, socially disabling disorder to a state that has been regarded as physiological by some authors. The most severe forms of acne are acne fulminans and acne inversa. Although acne may occur in all age groups, it is most prevalent during adolescence. It is not known why acne subsides in most patients but persists into adulthood in some. Certain medications may be associated with provocation, perpetuation, or exacerbation of pre-existing acne or with acneiform eruptions. Acne-like disorders include rosacea, pseudofolliculitis barbae, and other conditions that share clinical features with acne.

Acne Vulgaris↗
PubMed2005

Does calculation of ankle brachial pressure index need revision?

Peripheral arterial disease (PAD) is a commonly encountered but a commonly under-diagnosed condition in clinical practice. Ankle brachial pressure index (ABI) is a widely used procedure in its detection. It is also a very good prognostic marker not only of PAD but also of mortality. According to the current guidelines ABI of a side i.e. either the left or the right, is the quotient of the higher of the systolic blood pressures (SBP) of the two ankle arteries of that limb (either the anterior tibial artery or the posterior tibial artery) and the higher of the two brachial SBP of upper limbs. With the currently existing method of ABI calculation, considering only the higher of the SBP of the two ankle arteries, a distal stenosis of the ankle arterial system with the lower SBP, may be missed. We suggest a modification to the currently existing of calculating ABI. The method has been termed by us as the low ankle pressure method. In this method the lowest ankle pressure between the two ankle arteries of a particular side is to be the numerator and the denominator could be the same as before. A study or a series of studies comparing our proposed method with the current one are needed to test its clinical utility.

Ankle↗
PubMed2005

Postural stability before and after hyperbaric oxygen treatment.

OBJECTIVE: The purpose of this study was to determine the effect of hyperbaric oxygenation (HBO) on postural stability in healthy volunteers. The study was performed in accordance with treatment protocols for divers' decompression sickness and carbon monoxide poisoning. METHODS: Twenty-one healthy male divers, aged 31 +/- 6.88 years (mean +/- SD), were tested with quantitative Romberg's test before and after HBO (90 min in a pressure chamber at an ambient pressure of 253 kPa, approximately 15 m of sea water, breathing pure oxygen). The quantitative Romberg's test is a calculation of the average sway for 50 s. RESULTS: No difference was found between sway before and after the HBO (P < 0.05), i.e. we were unable to show that the results of quantitative Romberg's test are affected by HBO. Thus, the quantitative Romberg's test may be a valuable tool in evaluating patients with decompressions sickness, carbon monoxide intoxication and other neurological diseases normally treated with HBO.

Adult↗
PubMed2003

Isobutyl-nitrite-induced methemoglobinemia; treatment with an exchange blood transfusion during hyperbaric oxygenation.

A young man was accidentally intoxicated with isobutyl nitrite by a threefold lethal dose. Due to nitrites' ability to change hemoglobine into methemoglobine the patient showed signs of severe hypoxia, which could not be treated by conventional means. Therefore the patient was rapidly transferred to a hyperbaric chamber. The patient was treated with pure oxygen at 283 kPa under which a blood exchange transfusion was performed. The patient fully recovered.

Adolescent↗
PubMed2003

Atrophodermia vermiculata: case report and review of the literature.

A 21-year-old woman with an 11-year history of symmetric reticular atrophy on both cheeks, pre-auricular areas, and forehead is presented. The depressions gave a worm-eaten appearance to the skin. Histopathological findings from a biopsy specimen of lesional skin revealed an atrophic follicle. The connective tissue showed mild inflammation in perifollicular and perivascular distribution. The hair follicle was widely dilated and was filled with a keratotic plug. This case points out many of the outstanding clinical and histopathological features of atrophodermia vermiculata as described previously. Atrophodermia vermiculata appears to be one of a group of closely related conditions characterized by keratosis pilaris and atrophy of the skin.

Adult↗
PubMed2002

Uncommon vascular naevi associated with focal acantholytic dyskeratosis.

Cutis marmorata telangiectatica congenita and vascular twin naevi are rare vascular anomalies in which focal acantholytic dyskeratosis is usually not observed. We describe a 44-year-old-man who presented for evaluation of skin lesions that had been present since birth. Physical examination revealed anaemic macules adjacent to a naevus telangiectaticus on the chest. Naevus anaemicus was also seen on the shoulders, arms, and left leg. There was bluish-reddish reticulate marking of the skin and cutaneous atrophy. Shortening and hypoplasia of the left leg was observed. Histologic examination of two biopsy specimens revealed focal acantholytic dyskeratosis. In vivo confocal laser scanning microscopy showed dilated capillaries and vessels of the upper dermal plexus in the telangiectatic and decreased capillary blood flow in the anaemic skin sites. The findings were consistent with a diagnosis of cutis marmorata telangiectatica congenita, vascular twin naevi, and incidental focal acantholytic dyskeratosis. The particularities of the present case are the following: firstly, the association of two rare vascular anomalies to which the genetic concept of mosaicism can be applied; secondly, the occurrence of incidental focal acantholytic dyskeratosis in sites of vascular naevi.

Acantholysis↗
PubMed2002

Julius--a software framework for computer-aided-surgery.

In the paper we introduce Julius--an extendable cross-platform software framework for medical visualization and surgical planning. Julius features a modular, cross-platform design using Qt and Vtk libraries and comes with a set of image analysis components, like semi-automatic segmentation, registration, visualization and navigation. We also present a 3D surface generation pipeline used in Julius for generating surfaces from volume data. The pipeline consists of image based filtering, marching cubes surface extraction algorithm, surface decimation and surface smoothing steps. We use this approach within different medical applications like craniofacial surgical planning and will also show the overall software framework within the paper.

Computer Graphics↗