Bittera' 1ntr: by D . Boda . Paediatric ~e~a r t m e s , UiiGZEi& of Szeged, Hu&ry.It has frequentelg been suggested that MV gene carriers are notcompletely healthy, and that cages owcur among them axhibiting clinical symptoms oP MV of variable severity. Without an appropriate examination method, this could not be proved so far. We recently found that the bromide index is suitable for demonstration of W heterozygous state. With some modification, the blood: sweat bromide ratio after per os NaBr administration is determined with an ion-selective electrode. With this method, hZV gene carrying was confirmed in 24 children with chronic diseases of the respiratory tract. Such Hbngary .It has been shown earlier by the authors that the glomerular filtration ?ate /GFR/ and the penicillin clearence are increased in short-term cllildhood diabetes. Recently, GFR and carbenicillin half-life /T/2/ were determined in insulin-treated children with a diabetes duration of 1-5 years, and in a healthy control group. A n inverse relationship, between carbenicillin T/2 and GFR was found in,both groups. The GFR was significantly higher, and the carbenicillin T/2 significantly lower in diabetic cililaren than in healthy controls. There was no correlation to blood sugar levels. It is suggested that the accelerated elimination of penicillin and carbenicillin in early diabetes necessitates lligher dosages of these drugs for an adequate therapeutic effect. Clinical and laboratory data are reported on metachromatic leukodystrophy of delayed infantile type in a five and a half years old female child from a marriage between cousins of first degree. TvIetachromatic staining eulphati.de excreted in the urine was confirmed by cresyl violet staining urinary sediment. There was no arylsulphatase activity in the urine. Quantitative glycolipid thin-layer chromatography of the urine showed the characteristic sulphatide accumulation. Metachromatic granules were detected in fibroblast cultures. Lysosomal arylsulphatase-A was determined on serum and wbc homogenizates. The enzymatic activity of the leukocyte homogenizate of the patient was 8.9% of the normal value /homozygote/; corresponding values in the mother and father were 47.7%, and in the paternal grandfather 27.7% /all three heterozygote/. The course of the heredity of the disease could be well followed by examination of the specific enzymatic activity of the family members. Lysosomal arylsulphatase-A examinations are of great importance in the diagnosis of demyelinization syndromes. STUDY OF ARYLSULPHATASE - VISUAL OBSERVATION AND ELECTRONIC MONITORING OF MOTOR ACTIVITY IN NEI~ORN INFANTSLars-Eric Brattebx Perinatal Research Unit, University hospital, Uppsala, Sweden.The spontaneous motor activity of newborn infants was electronically monitored using a sensing unit, placed in the bed or incubator. The sensor is an inductive-capacitive circuit, which allows monitoring of motor activity without attachment of cables or electrodes to the infant. The signal from the instrument and the coded visua...
Stiff person syndrome is a rare neuroimmunological disease, characterized by severe, involuntary stiffness with superimposed painful muscle spasms, which are worsened by external stimuli. The classical form is associated with high levels of antibodies against glutamic acid decarboxylase. One of the variant forms is associated with antibodies against amphiphysin. This entity is a paraneoplastic syndrome, caused primarily by breast cancer, secondarily by lung cancer. Symptomatic therapy of anti amphiphysin positive stiff person syndrome includes treatment with benzodiazepines and baclofen (including intrathecal baclofen therapy). The effect of immunological therapies is controversial. Treatment of the underlying cancer may be very effective. In this report, we describe a 68 year old female presenting with an unusally rapidly developing anti amphiphysin positive stiff person syndrome, which was associated with breast cancer. Her painful spasms abolished after intrathecal baclofen treatment was initiated. Her condition improved spontaneously and significantly after cancer treatment, which enabled to start her complex rehabilitation and the simultaneous dose reduction of the intrathecal baclofen. The bedridden patient improved to using a rollator walker and the baclofen pump could be removed 18 monthes after breast surgery. This highlights the importance of cancer screening and treatment in anti amphiphysin positive stiff person syndrome cases.
It has frequentelg been suggested that MV gene carriers are notcompletely healthy, and that cages owcur among them axhibiting clinical symptoms oP MV of
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