Ferromagnetic materials in patients: detection before MR imaging

A number of surgical clips and other metallic materials embedded within patients have ferromagnetic properties that present a potential hazard when in the strong fields associated with magnetic resonance imaging. Several types of magnetometers and metal detectors were investigated as possible pre-imaging screening devices. The sensitivities and costs of these devices are given.     

Aktuelles aus dem Medizinrecht

Ohne Zusammenfassung

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Current aspects of forensic lawFrom October 2004 to March 2005

     

Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay

We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous.     

Aftercare of depressed inpatients

Background: In contrast to acute treatment, delivery of aftercare to depressed patients has not been well studied. Poor care may contribute to poor outcomes for treated depression. Methods: One hundred and two patients discharged from hospital with unipolar depression were followed up 18 months later and were interviewed in detail regarding aftercare and treatment received. Unmet needs were assessed on the community version of the MRC Needs for Care Assessment. Results: In the first month after discharge approximately 70 % of subjects received contacts with mental health services and in the first 3 months over 80 % received at least one contact. About 40 % were in contact with mental health services at 18 months. Needs assessment found comparatively low unmet needs, reaching highest levels (around 25 % in any 6-month period) for medication. Two-thirds of unmet needs for medication and psychotherapy were due to patient refusal or non-compliance. Aftercare levels were higher in those with more previous admissions and were unrelated to presence of personality disorder. Conclusions: There were some deficiencies in service aftercare for depressed patients in a British NHS setting, although unmet need was not high. Some aftercare failures reflect patient reluctance to receive further treatment, representing a challenge to overcome in patients entitled to autonomous choices. Accepted: 27 September 2002 Correspondence to R. Ramana     

Dermatomyositis in childhood. Review of eight cases

Eight cases of dermatomyositis in children admitted to Scottish hospitals between 1962 and 1972 have been reviewed. 6 of the 8 were currently in complete remission. In the other 2 cases the disease remained active in 1 and 1 had died of cardiac failure 6 years after the onset of disease. 5 had developed extensive soft tissue calcification for which 2 were treated with ethanehydroxydiphosphonate, one showing definite improvement and the other no change. All had been treated with corticosteroids and two in addition had had cytotoxic agents (methotrexate or cyclophosphamide). The overal prognosis had probably been improved by the use of corticosteroids but not by the cytotoxic drugs. Only one of the patients was incapacitated by residual contractures or calcinosis.     

A model of corrective gene transfer in X-linked ichthyosis

Single gene recessive genetic skin disorders offer attractive prototypes for the development of therapeutic cutaneous gene delivery. We have utilized X-linked ichthyosis (XLI), characterized by loss of function of the steroid sulfatase arylsulfatase C (STS), to develop a model of corrective gene delivery to human skin in vivo. A new retroviral expression vector was produced and utilized to effect STS gene transfer to primary keratinocytes from XLI patients. Transduction was associated with restoration of full-length STS protein expression as well as steroid sulfatase enzymatic activity in proportion to the number of proviral integrations in XLI cells. Transduced and uncorrected XLI keratinocytes, along with normal controls, were then grafted onto immunodeficient mice to regenerate full thickness human epidermis. Unmodified XLI keratinocytes regenerated a hyperkeratotic epidermis lacking STS expression with defective skin barrier function, effectively recapitulating the human disease in vivo. Transduced XLI keratinocytes from the same patients, however, regenerated epidermis histologically indistinguishable from that formed by keratinocytes from patients with normal skin. Transduced XLI epidermis demonstrated STS expression in vivo by immunostaining as well as a normalization of histologic appearance at 5 weeks post-grafting. In addition, transduced XLI epidermis demonstrated a return of barrier function parameters to normal. These findings demonstrate corrective gene delivery in human XLI patient skin tissue at both molecular and functional levels and provide a model of human cutaneous gene therapy.      

Fanconi's anemia treated by allogeneic marrow transplantation

Eight patients with Fanconi's anemia were given cyclophosphamide alone (seven patients) or combined with procarbazine and antithymocyte globulin (one patient) followed by marrow grafts from HLA-identical siblings. All patients had engraftment. Seven developed acute and three chronic graft-versus-host disease (GVHD). Three patients died with GVHD and infectious complications (days 19, 56, and 82) and one with an intracerebral hemorrhage (day 540). Four patients are surviving 647- 3435 days after grafting, two are well, and two have chronic GVHD that is improving. These results show that Fanconi's anemia can be treated successfully by allogeneic marrow transplantation.     

Die Aufklärungspflicht bei endoskopischen Operationen

Ohne Zusammenfassung     

The neurochemistry of phenylketonuria

The mechanisms by which deficiency of hepatic phenylalanine hydroxylase causes central nervous system disease are reviewed. The neurological disease appears to be secondary to increased concentrations of phenylalanine and a decrease in the concentrations of other large neutral amino acids, especially methionine and tyrosine, within the central nervous system. This causes a deficiency of the neurotransmitter dopamine, reduced protein synthesis and demyelination. Similar mechanisms appear to be operating when blood phenylalanine concentrations are in the range expected for early continuously treated phenylketonuria. Conclusion The severe brain disease found in phenylketonuria is caused by a raised blood phenylalanine content which increases the brain free phenylalanine and decreases the concentration of other large neutral amino acids. Brain protein synthesis is decreased, myelin turnover is increased and there are abnormalities in amine neurotransmitter systems.