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Biomedical subjects

J Gärtner

Publications and source records attributed to J Gärtner.

At least 55 records · Page 3Linked to original sources
PubMed1998

A technique to take leave into account in shift-rota design.

Sick leave, vacations, and the like lead to substantial leave factors. Rota design techniques for covering leave are not always feasible. A small company was helped to develop a new rota. The main requirements were an ergonomically better rota, less overtime caused by leave, and a rota that lets employees take their vacation during the summer. The internal evaluation was unanimously positive after 1 year. A prospective leave coverage was used, with different workhours during summer and spring and with a mixture of shift work and flexible day work. Later the rota was further refined, and broader qualifications of the workers made a much simpler rota possible. The experiences of this study indicate that problems with leave can be reduced if expected variations in leave are considered in the rota design by including variations in workhours. A further promising strategy is to mix shift work with other types of work when time is not a critical factor.

Austria↗
PubMed1997

Leukodystrophy incidence in Germany.

Through a survey of all departments of pediatrics, neurology and neuropathology in Germany, we calculated the incidence of all major forms of leukodystrophy. Only diagnoses based on specific biochemical tests in association with typical findings and/or neuroradiologically proven white matter involvement were accepted. In accordance with these strict criteria, 617 cases of leukodystrophy were found (incidence of all forms: app. 2.0/100,000). Minimal incidence was estimated at 0.8/100,000 for adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN), 0.6/100,000 for metachromatic leukodystrophy (MLD), and 0.6/100,000 for Krabbe disease. Thus ALD/AMN is apparently underdiagnosed in Germany. A considerable proportion of leukodystrophies could not be classified in spite of adequate diagnostic procedures in experienced centers.

Adolescent↗
PubMed1997

The value of new MRI techniques in adrenoleukodystrophy.

PURPOSE: To evaluate the significance of new techniques in MRI examinations of the brain in children with X-linked adrenoleukodystrophy (ALD). MATERIALS AND METHODS: Five patients aged between 2 and 15 years with childhood ALD were examined with MRI. Following conventional spin-echo (CSE) sequence, a fast spin-echo (FSE) sequence with T2 contrast was performed in four patients, an FSE turbo-inversion-recovery (TIR) sequence in two, magnetization transfer contrast (MTC) imaging in two, and localized proton spectroscopy (MRS) in four patients. RESULTS: FSE compared favorably with CSE with a time saving of 70%. On TIR images the contrast between normal and demyelinated white matter was greater than on CSE and FSE images. Calculated MTC values revealed a severe MTC loss within the demyelinated regions and a moderate reduction in the border zones. In this way, calculation of MTC might be useful to differentiate between edematous changes and areas of irreversible demyelination. MRS revealed a reduction in N-acetylaspartate and an elevation in choline (Cho). The degree of MRS changes paralleled the severity of demyelination. A Cho elevation may precede visible demyelination on T2-weighted images. CONCLUSIONS: T2-weighted FSE sequences can replace CSE without any disadvantages and with effective time saving. The indication for MTC imaging and MRS in children with ALD is not yet finally defined. These new techniques may reveal the earliest signs of cerebral involvement or of disease progression, a matter of great importance in selecting the optimal therapeutic approach.

Adolescent↗
PubMed1997

Cerebral metabolic changes in biotinidase deficiency.

Clinical and metabolic changes in the central nervous system are described in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized magnetic resonance proton spectroscopy. The patient improved markedly with biotin treatment. Nevertheless, neurological sequelae and abnormal intracerebral lactate concentrations persisted despite normalized metabolic disease markers in extracerebral fluids. Therefore, localized in vivo measurements of intracerebral metabolites may be a valuable tool for elucidating the pathogenesis of biotinidase deficiency.

Amidohydrolases↗
PubMed1997

[Successful irradiation of ciliary processes with electrons in therapy refractory aphakic glaucoma].

BACKGROUND: Successful radiation was already reported by Genée and Weitzel (1968): Electrons from a Betatron were used for irradiation of the ciliary epithelium to lower aqueous humor secretion. To our knowledge, no other paper on this topic has been published so far. PATIENT: A 26-year-old man had history of concussion trauma and cataract surgery in childhood. In adult age, cataract surgery and retinal operations were followed by numerous surgical procedures and maximal medical treatment because of a secondary glaucoma. The patient refused further surgical and medical treatment with the exception of the administered systemic carbo-anhydrase inhibitor. Because of severe side-effects caused by the acetozolamide, irradiation of the ciliary processes with electrons, emitted from a linear accelerator, was performed. The total amount of 12 Gy both on the nasal and on the temporal side of the ciliary body was fractionated in several sessions. RESULTS: During a follow-up of 22 months without medication, the mean value of i.o. pressure was 22.1 mm Hg. The patient is doing well, corrected VA is 0.8. CONCLUSION: Irradiation of the ciliary processes with electrons for lowering aqueous humor secretion was effective in an otherwise non treatable case of glaucoma.

Adult↗
PubMed1996

[Legal definition of the accident concept in social accident insurance].

For the first time, the "Gesetz zur Einordnung des Rechts der gesetzlichen Unfallversicherung in das Sozialgesetzbuch (Unfallversicherungs-Einordnungsgesetz UVEG)" from August 7, 1996, defines the term "accident" in the social accident insurance, as expressed since January 1, 1997, in 8 I Sozialgesetzbuch (SGB) VII. This legal definition widely corresponds to the definition in the private accident insurance as well as to the previous interpretation known from the literature and the jurisdiction.

Accidents↗
PubMed1995

[Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease].

We present the findings of magnetic resonance imaging (MRI) and localised 1H magnetic resonance spectroscopy (MRS) in two brothers with Canavan's disease, a rare autosomal recessive leukodystrophy. Urine specimens of one child were evaluated by MRS. All examinations were performed in the same whole body 1.5 T superconducting magnet. MRI revealed the typical pattern of leukodystrophy including a more severe demyelination in the older child. The younger brother showed additional high signal lesions in the globi pallidi on T2-weighted images. MRS of the brain had an elevated ratio of N-acetyl-aspartate (NAA)/phosphocreatin + creatin (Cr) while the ratio of Cholin/Cr was reduced. in urine spectroscopy the concentration of NAA was markedly increased. The ratio of NAA/creatin + creatinin was 880 +/- 10% mmol/mol (normal: 5-21 mmol/mol). Diagnosis of Canavan's disease was supported by gas chromatographic urine examination with an 80-100 fold elevation of NAA concentration. Hence, the diagnosis of Canavan's disease could be established by increased ratio of NAA/Cr and decreased ratio of Cho/Cr relation in brain spectroscopy and high NAA concentration in urine spectroscopy.

Aspartic Acid↗
PubMed1995

[Calcific tendinitis of the shoulder].

Degenerative ossification is formed directly at the major tubercle. Like in any other gliding tendon, fibrocartilage cells lie on the articular side of the rotator tendon at the pivot of the humerus head. Typically, the calcific deposits of calcifying tendinitis are found between these two areas. At this site, hydroxyapatite is usually formed by fibrocartilage cells through an unknown stimulus. There is no ossification. This is a two-phase disease. During the chronic initial phase, a calcific deposit is formed in the tendon of the rotator cuff. In the X-ray, it is clearly circumscribed and has a dense appearance (type I). Pain is inconsistent and may exist for years. In the acute phase, the deposit undergoes spontaneous resolution. Now it takes on a translucent and cloudy appearance without clear circumscription (type III). Patients experience severe pain for 2-3 weeks. Finally, a normally functioning shoulder joint will result. The X-ray therefore allows a prognostic conclusion. In a study including 235 calcific deposits, it became clear that there are some cases where it is not possible to designate the specific X-ray morphology to a given deposit (type II). Irrespective of the phase of disease, the so-called calcific deposit is composed of poorly mineralized hydroxyapatite. For a diagnosis, we require: a typical history, clinical findings consistent with tendinitis of the rotator cuff, calcific deposits in the tendon associated with signs and symptoms of tendinitis. It is recommended that radiographs be taken at least in AP projections with the shoulder in internal and external rotation to demonstrate the deposits without super-imposition. Ultrasound shows concomitant bursitis and is useful for the differential diagnosis of rupture of the rotator cuff. Radiographic diagnosis is most difficult when there are small opacifications near the rotator attachment. In this case, allocation may become possible only later in the course of disease. Initial treatment should always be non-operative. Almost all therapeutic modalities are said to be quite successful. Needles under local anesthesia is recommended only for patients with marked pain who lack any signs of resolution in the X-ray. According to a prospective study, the success rates of needles depend on the roentgenologic findings: in type I deposits, resolution occurs in 33%, in typq II deposits in 71%. Freedom from pain is seen in about 50% of the patients. Type III deposits undergo resolution with and without therapy in about 2-3 weeks. Post-operative results are reported to lie between 77% and 96% irrespective of the method used.(ABSTRACT TRUNCATED AT 400 WORDS)

Calcinosis↗
PubMed1995

Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

Recently, the gene for the most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD), has been described encoding a peroxisomal membrane transporter protein. We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and "Addison disease only" (ADO) phenotype. In the three patients exhibiting the classical picture of severe childhood ALD we identified in the 5' portion of the X-ALD gene a 38-bp deletion that causes a frameshift mutation, a 3-bp deletion leading to a deletion of an amino acid in the ATP-binding domain of the ALD protein, and a missense mutation. In the patient with the clinical phenotype of AMN, a nonsense mutation in codon 212, along with a second site mutation at codon 178, was observed. Analysis of the patient with the ADO phenotype revealed a further missense mutation at a highly conserved position in the ALDP/PMP70 comparison. The disruptive nature of two mutations (i.e., the frameshift and the nonsense mutation) in patients with biochemically proved childhood ALD and AMN further strongly supports the hypothesis that alterations in this gene play a crucial role in the pathogenesis of X-ALD. Since the current biochemical techniques for X-ALD carrier detection in affected families lack sufficient reliability, our procedure described for systematic mutation scanning is also capable of improving genetic counseling and prenatal diagnosis.

Adrenoleukodystrophy↗
PubMed1993

Localization of the 70-kDa peroxisomal membrane protein to human 1p21-p22 and mouse 3.

The 70-kDa peroxisomal membrane protein (PXMP1) is a member of the ATP-binding cassette transporter family. In humans, mutations in this gene may be responsible for a subset of patients with Zellweger syndrome, a lethal inborn error of peroxisome assembly. The PXMP1 gene was assigned to human chromosome 1p21-p22 by in situ hybridization and its murine homologue (Pxmp-1) to chromosome 3 by interspecific backcross analysis.

Animals↗
PubMed1993

The 70 kDa peroxisomal membrane protein: an ATP-binding cassette transporter protein involved in peroxisome biogenesis.

The 70 kDa peroxisomal membrane protein (PMP70) is a major component of peroxisomal membranes. cDNAs for human and rat PMP70 have been cloned and sequenced and the gene mapped to human chromosome 1p21-22. The predicted amino acid sequence showed homology to members of the ATP-binding cassette transporter family. In humans, mutations in the PMP70 gene have been found in a subset of patients with Zellweger syndrome, a lethal inborn error of peroxisome biogenesis. These results suggest that PMP70 functions in transporting molecules or possibly peptides across the peroxisomal membrane and has an important role in peroxisome assembly.

ATP-Binding Cassette Transporters↗
PubMed1992

Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome.

The peroxisomal membrane protein, with a relative molecular mass of 70,000 (M(r) 70K) (PMP70), is an important component of peroxisomal membranes and an ATP-binding cassette protein. To investigate its possible involvement in Zellweger syndrome (ZS), an inborn error of peroxisome assembly, we cloned and sequenced cDNAs for human PMP70 and mapped the gene to chromosome 1. Amongst 32 probands with ZS or related disorders, we found two mutant PMP70 alleles in single ZS probands from the same complementation group. One allele has a donor splice site mutation and the second a missense mutation. Our results suggest that PMP70 plays an important role in peroxisome biogenesis and that mutations in PMP70 may be responsible for a subset of ZS patients.

ATP-Binding Cassette Transporters↗
PubMed1991

The 22-kD peroxisomal integral membrane protein in Zellweger syndrome--presence, abundance, and association with a peroxisomal thiolase precursor protein.

The primary genetic defect of Zellweger syndrome may be related to defective synthesis or impaired import of peroxisomal proteins. We analyzed the presence and measured the abundance of the 22-kD peroxisomal integral membrane protein (PMP) in patients with Zellweger syndrome. We determined the intracellular localization of the 22-kD PMP and compared it with the localization of a peroxisomal 44-kD thiolase precursor protein. The 22-kD PMP was quantified by immunoblot analyses in liver tissue (n = 7 patients). Immunoblot signals were evaluated using transmission photometry. The intracellular localization of the 22-kD PMP and the peroxisomal 44-kD thiolase precursor protein were determined by immunoblot analyses on fibroblast subcellular fractions prepared by Nycodenz (n = 5 patients) or sucrose density gradient centrifugation (n = 2 patients). The 22-kD PMP was present and associated with membrane fractions in all patients. Its abundance varied in patients as compared with normal human liver controls. The 22-kD PMP was located in subcellular membrane fractions having a lower density than normal peroxisomes or mitochondria. Using two different gradient techniques, the 22-kD PMP and the peroxisomal 44-kD thiolase precursor protein were found in the same low-density gradient fractions. These results suggest that in Zellweger syndrome peroxisome-like elements containing both the 22-kD PMP and a 44-kD thiolase precursor protein are formed. Globally defective synthesis or import of peroxisomal proteins is therefore unlikely to be the primary genetic defect in the patients we studied.

Acetyl-CoA C-Acetyltransferase↗
PubMed1991

[Postoperative results of arthrography following suturing of ruptured rotator cuff].

The authors examined 41 shoulder joints by arthrography after the patients had undergone surgery for rotator cuff tears. In 26 cases the arthrographic findings were negative; that is to say the region of the tendon suture was tightly closed. In 10 of these 26 cases the underside of the rotator cuff had a rather irregular border. The arthrograms were positive for 12 of the other 15 patients who had undergone surgery. In 3 cases contrast medium leakage into tendinous tissue on the joint side was seen. The postoperative results, ascertained with reference to the assessment guidelines proposed by Neer and Patte, were largely unrelated to the arthrographic findings. In patients with contrast medium leakage from the rotator cuff only the muscular strength was slightly reduced. There was no correlation with the clinical symptoms. In the comparison of all patients who had undergone postoperative arthrography with the total study population a lower number in the index was striking. It may be that patients with symptoms persisting after surgery were more prepared to undergo control arthrography.

Adult↗