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Biomedical subjects

B Reitter

Publications and source records attributed to B Reitter.

29 records · Page 2Linked to original sources
PubMed1984

Idiopathic de Toni-Debré-Fanconi syndrome with absence of proximal tubular brush border.

In a girl with idiopathic de Toni-Debré-Fanconi syndrome associated with psychomotor retardation, severe renal tubular dysfunction was observed from the first day of life. At the age of 21/2 and 4 years the glomerular filtration rate (GFR) was only 60 ml/min/1.73 m2. No tubular transport of glucose, phosphate, paraaminohippurate and amino acids could be demonstrated. The tubular handling of uric acid, potassium and calcium, was also disturbed. Renal net acid excretion was zero at a plasma bicarbonate level of 14 mmol/l. Urinary osmolality ranged between 88 and 680 mosmol/kg. During hypotonic saline diuresis GFR decreased further; a GFR of 19 ml/min/1.73 m2 was accompanied by a fractional distal sodium delivery of 96.5% and a fractional free water clearance of 73%. In a renal biopsy specimen the proximal tubular cells showed variations in height with dedifferentiation and a widespread absence of brush border on electron microscopy. This formerly undescribed tubulopathy offers a unique chance to investigate glomerulo-tubular balance, adaptive mechanisms of distal tubular transport and renal metabolism under conditions where an apparently unchanged ultrafiltrate is offered by the proximal tubule to the loop of Henle and to a primarily intact distal tubule.

Amino Acids↗
PubMed1980

Capping of lymphocytes in patients and carriers of Duchenne muscular dystrophy.

Recent results showed that Duchenne muscular dystrophy is probably associated with a generalized membrane defect. The capping phenomenon in lymphocytes indicates normal intramembrane protein mobility and disturbances of this phenomenon are is believed to reflect membrane alterations. We have investigated capping in lymphocytes from 19 patients with Duchenne muscular dystrophy, 13 carriers, 8 patients' sisters, 14 patients' aunts and 52 normal controls. All 19 patients showed a reduction in capping both with fluorescein conjugated polyvalent goat antiserum (mean +/- SD = 18.5 +/- 5.1% and with fluorescein labeled Concanavalin A (mean +/- SD = 10.8 +/- 3.1%) as compared to controls. Normal persons (n = 52) have a mean of 50.2 +/- 9.9% (SD) capping with polyvalent anti-immunoglobulin (range: 32--72.5%) and 25.6 +/- 3.6% with F-Con A (range: 18.5--31.5%). 12 of the 13 mothers, as well as 5 of the 8 patients' sisters, also exhibited decreased lymphocyte capping to the same extent as the patients. Creatine kinase activity (CK) was elevated only in 4 mothers and 2 of the sisters. Our results indicate that this method might be of value in detecting carriers and can yield less false negative results as the CK-activity test.

Adult↗
PubMed1980

Capping of lymphocytes for carrier detection in Duchenne muscular dystrophy: technical problems and a review of the literature.

There has been considerable interest in capping of lymphocytes in patients with Duchenne muscular dystrophy (DMD). However, the results from different authors are controversial. We have investigated cap formation in thirteen families with DMD, using a method standardized in our laboratory, and could establish diminished capping in all 12 patients and in 12 of the 13 mothers. By examining cap formation simultaneously with whole polyvalent antiserum, with F(ab)2 fragment of polyvalent antiserum, and with monospecific antisera we could also confirm this observation of defective capping in 7 patients and 4 carriers, as compared to 9 control subjects likewise examined. We have indications that treatment of the lymphocytes under unfavourable conditions e.g. preincubation in buffer solution might accentuate the decrease of lymphocyte capping in patients and carriers.

Adolescent↗
PubMed1980

Chlorambucil neurotoxicity: report of two cases.

Chlorambucil neurotoxicity was observed in two children treated for frequently relapsing minimal change nephrotic syndrome. In the first child the drug was overdosed. Myoclonic jerks were observed, followed by a generalized tonic-clonic seizure. Concomitant EEG abnormalities disappeared after discontinuation of therapy, but reappeared 6 months later without further seizures. In the second child chlorambucil treatment was started twice, but had to be interrupted each time; the first time because of sudden collapse, bradycardia and respiratory arrest, and the second time because of myoclonic jerks. EEG changes were limited to generalized slowing and improved after discontinuation of therapy. According to the literature chlorambucil neurotoxicity is found almost exclusively in children, after overdosage or in the nephrotic syndrome. Strict neurologic supervision of patients treated with this drug is recommended.

Adolescent↗
PubMed1979

Neonatal respiratory insufficiency due to centronuclear myopathy.

Two neonates showing generalized hypotonia, weakness of limbs, trunk, and oral musculature died because of muscular respiratory distress. The diagnosis of centronuclear (or myotubular) myopathy was established by histological and histochemical techniques. The genetic situation and routine laboratory data including electromyography were compared with similar cases in the literature; findings were inconclusive with respect to this diagnosis. These results indicate the need for a muscle biopsy and the use of histochemical stainings and/or electronmicroscopical investigation for a proper diagnosis in hypotonic newborns under respiratory distress after exclusion of etiologies other than neuromuscular diseases. Still the diagnosis of centronuclear myopathy in a neonate does not allow a precise prognosis. Increased awareness of this disorder and adequate diagnostic workup is needed in order to extend our understanding and to clarify the prognosis.

Humans↗
PubMed1978

[Familial paroxysmal choreoathetosis. Clinical course, L-dopa-effect (author's transl)].

The clinical course of two boys with familial paroxysmal choreoathetosis was traced. As far as the medical history could be retrieved, their family has been affected by this disease for three generations. Except for this disorder, the patients' development and psychophysical state are unremarkable. Both boys responded well but at times incompletely to anticonvulsants. Therefore L-Dopa was introduced to the therapeutic regime of the younger, more severely affected boy. L-Dopa caused an appreciable decline of the frequency of the paroxysms.

Adolescent↗
PubMedDate not supplied

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach.

Based on two unrelated index patients afflicted with INCL, fetal chorion tissues were studied from subsequent pregnancies of the two respective mothers resulting in the prenatal diagnosis of INCL in two of the three pregnancies. Documentation of INCL was based on electron microscopy and DNA studies of the biopsied chorion tissue, later confirmed in the two affected fetuses after termination of their pregnancies by demonstrating INCL-specific lipopigments in post-mortem tissues, in the liver of both aborted fetuses and, additionally, in spleen and skeletal muscle of one of the affected fetuses. The autolysis of the aborted tissues, however, precluded a systematic documentation of all affected cell types and tissues. Thus, prenatal diagnosis of INCL is feasible and reliable for both Finnish and non-Finnish families.

Abortion, Induced↗
PubMedDate not supplied

[Multi-segmental fusion of scoliosis in Duchenne's muscular dystrophy].

Operations in scoliosis in patients suffering from an advanced stage of Duchenne muscular dystrophy are associated with a higher risk due to the extent of the curves, the respiratory insufficiency and frequent cardiomyopathia. Progressive scolioses in 20 wheelchair patients with an age between 10.5-18.3 years (mean 14.6 years) were treated by CDI. The mean preoperative angle in this group was 70.6 degrees, the postoperative angle 31.2 degrees (mean correction 39.4 degrees or 55.8%). The preoperative lordosis of the lumbar spine (mean angle 4.1 degrees) was corrected to 17.8 degrees postoperatively. The average intraoperative blood loss (2300 ccm) was evident more compared with idiopathic scoliosis. One neurologic complication (postoperative disturbance of bladder function) was observed. Nowadays early surgical correction and stabilization (Cobb angle > 20 degrees) has to be recommended as the treatment of choice for scolioses in Duchenne muscular dystrophy using multisegmental instrumentation methods to enable rapid mobilisation and a postoperative care without brace or cast. This conception allows a prophylactic operation including the following targets: prolongation of life expectancy, improvement of sitting position and prevention of rapid deterioration of lung function including assisted mechanical ventilation in late stages.

Adolescent↗
PubMedDate not supplied

[Cataplexy in type C Niemann-Pick disease].

Cataplexy usually occurs as a part of the tetrad of clinical phenomena of idiopathic narcolepsy. Symptomatic cases are rare. A 4 years old girl from consangineous parents had recurrent loss of muscle tone and fell to the ground, when she laughed. The EEG was normal. Prolonged neonatal jaundice with cholestasis, hepatosplenomegaly, mental regression, supranuclear ophthalmoplegia, and foam cells led to the diagnosis of Niemann-Pick disease type C with symptomatic cataplexy. Symptomatic forms of the narcolepsy-cataplexy complex should be considered, when there is an early onset before puberty, cataplectic attacks predominate the narcoleptic attacks, and when additional neurological symptoms occur. Symptomatic cataplexy occurs in Niemann-Pick disease type C. It is considered to be the result of lesions of the pontine reticular formation.

Astrocytes↗