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Biomedical subjects

F Manz

Publications and source records attributed to F Manz.

At least 109 records · Page 6Linked to original sources
PubMed1986

Type 2B muscle fibre deficiency in myotonia and paramyotonia congenita. A genetically determined histochemical fibre type pattern?

The histochemical ATPase fibre type pattern was examined in muscle biopsy samples obtained from patients with recessive myotonia, paramyotonia and from one patient with dominant myotonia. Absence (less than or equal to 5%) of 2B fibres was a genuine finding in the minority of the cases. In additional cases of recessive myotonia, a deficiency (less than or equal to 15%) of 2B fibres was observed. Absence or deficiency of 2B fibres was not related to the minor myopathic alterations or to (para-)myotonic activity. It is hypothesised that absence of 2B fibres is a dominant or a recessive autosomal trait, and deficiency of 2B fibres is a recessive trait. Reported findings and our own observations suggest the possibility of a genetic combination of myotonia and absence/deficiency of 2B fibres. Implications of these hypotheses are proposed.

Adenosine Triphosphatases↗
PubMed1985

Influence of chronic arsenic poisoning on bone marrow morphology. A case report.

Arsenic is widely used for the production of insecticides, paints, ceramics and for the preparation of textiles, leather and furs. Nevertheless hematologists are almost unaware of the influence of arsenic on bone marrow morphology. In the case described here we have found slight megaloblastic hemopoiesis, typical karyorrhexis in erythropoietic accompanied by basophilic stippling and impairment of mitoses in megakaryocytes and granulopoietic cells.

Adult↗
PubMed1985

Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data.

In our survey, 101 infants and children with cystinosis were registered in the Federal Republic of Germany. Ninety-five patients showed the infantile type of cystinosis, five the adolescent type and one possibly the adult type. The minimum incidence rate of infantile and adolescent cystinosis in the FRG was 1 patient per 179 000 live-births. In contrast to other countries, cystinotic patients were evenly distributed in the FRG. Patients with cystinosis originated more frequently from rural communities than from large cities. Before 1968 most patients died before reaching terminal renal failure, usually due to uncontrolled disturbances of water and electrolyte metabolism. Since 1976 the causes of death other than uraemia have been rare and most patients with terminal renal failure have entered a renal replacement program.

Adolescent↗
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↗
PubMed1984

[Renal acid excretion and renal molar load in healthy children and adults].

The urinary excretion of the quantitatively prevalent ions and nonionic solutes and of aldosterone-18-glucuronide was investigated in 49 healthy children and 22 healthy adults living at home. The median of renal net-acid-excretion was 0.99 meq/kg/day or 48 meq/day/1.73 m2 in children, and 0.75 meq/kg/day or 50 meq/day/1.73 m2 in adults. The median of osmolar load was 12.8 mosmol/kg/day or 643 mosmol/day/1.73 m2 in children, and 10.6 mosmol/kg/day or 661 mosmol/day/1.73 m2 in adults. High urinary osmolality was more frequently observed in children than in adults. The data may define a desirable range of renal net-acid-excretion (0.5-1.5 meq/kg/day) in children receiving synthetic diets.

Acid-Base Equilibrium↗
PubMed1983

Predictability of the progression of chronic renal failure.

The progression of chronic renal failure has been claimed to be predictable by means of mathematical models. The present study assesses, in 110 adult patients, the prediction error caused by the application of these models. The study shows that the prediction error has a wide range, which indicates that these models should be used with caution for prediction purposes in individual patients. Improvements of the models are proposed, and a new approach is demonstrated.

Adult↗
PubMed1983

Survival time in cystinosis. A collaborative study.

In a retrospective study the overall survival time of 205 cystinotic patients of six countries was determined. The median survival time was 8.5 years. The median time for 'renal death' (age at death due to uraemia or age at starting renal replacement therapy) was 9.2 years. The youngest patient dying of renal death was 5.2 years. No sex difference in survival time was noticed. Furthermore no difference in survival time was noted between the different countries. The analysis of the overall survival curve indicates no clear differences between the infantile and adolescent types of cystinosis.

Adolescent↗
PubMed1982

Long-term management of inherited renal tubular disorders.

In inherited renal tubular disorders with isolated defects of tubular transport medical treatment is usually either not indicated or is simple and effective. In some inherited metabolic disorders with complex defects of renal tubular transport a specific therapy is known. For example, in galactosemia and hereditary fructose intolerance crude products may be restricted or in cases of Wilson's disease copper stores may be reduced. In idiopathic Fanconi syndrome, cystinosis, oculocerebrorenal syndrome and glycogenosis Fanconi-Bickel, a symptomatic replacement treatment based on supplementation of water, electrolytes and vitamin D has improved the non-uremic survival of these patients considerably within the last 20 years. For long-term management of inherited renal tubular disorders, treatment of tubular dysfunction, chronic renal failure, and involved extrarenal organs must be supported by genetic counseling and assistance for social integration.

Acidosis, Renal Tubular↗
PubMed1982

Renal handling of inorganic sulfate in children with chronic kidney disorders.

Excretion, clearance and tubular reabsorption of inorganic sulfate (SO4) were measured in 38 children with various chronic kidney disorders over a wide range of glomerular filtration rates (GFR). The SO4 excretion remained constant up to advanced renal failure. Significant correlations were found between GFR and clearance or tubular reabsorption of SO4, respectively. It appears that in early renal insufficiency the reduction of tubular SO4 reabsorption is sufficient to prevent an increase in plasma SO4. At GFR values below 30 ml/min/1.73 m2 about half of the children studied exhibited a net tubular secretion of SO4 and all patients showed a rapid increase of plasma SO4 up to 10 times mean normal levels. It is suggested that the accumulation of SO4 in uremia is less compensated for than that of other ions.

Absorption↗
PubMed1981

Plasma inorganic sulfate in children with chronic renal failure.

Plasma sulfate concentration (SO4) was determined in 38 non-dialyzed children with chronic kidney disease and compared to inulin clearance and to other parameters of renal function. SO4 was measured by atomic absorption spectrophotometry. Plasma SO4 was inversely correlated with GFR and effective renal plasma flow. Positive correlations were found between plasma SO4, BUN, serum creatinine and serum phosphate levels. The highest levels of plasma SO4 were observed in 15 children undergoing regular dialysis. It is suggested that sulfate retention might be involved in the pathogenesis of uremic acidosis and bone disease.

Acidosis↗
PubMed1980

Determination of inorganic plasma sulfate by indirect atomic absorption spectrophotometry.

An indirect method for the determination of inorganic sulfate in small plasma volumes is presented. After removal of protein and phosphate by uranylacetate, sulfate is precipitated by barium chloride. Excess barium in the supernatant is measured by atomic absorption spectrophotometry. The sulfate content of the sample corresponds to the difference of the added and the measured barium. The mean concentration of inorganic plasma sulfate of healthy children, determined by this method, was 0.241 +/- 0.059 mmol/l.

Adolescent↗
PubMed1980

[High frequency discharges as a non-specific EMG activity in adult acid maltase deficiency (author's transl)].

The clinical diagnosis of a 34-year-old man was muscular dystrophy of the ascending limb-girdle type. There were no detectable signs of myotonia. Histological and biochemical investigations confirmed an acid maltase deficiency (AMD). Electromyography demonstrated a myopathic pattern, fibrillation potentials, normal nerve conduction velocity, and so-called pseudomyotonic or bizarre high frequency discharges. In the literature this EMG activity has been described as characteristic for AMD. But it seems to be a nonspecific EMG sign, which occurs in myogenic and neurogenic lesions such as myositis, metabolic and dystrophic myopathy, nuclear damage, radiculopathy, and neuropathy. It is therefore of little diagnostic value.

Adult↗
PubMed1980

Nephrocalcinosis in radiographs, computed tomography, sonography and histology.

In 12 patients with nephrocalcinosis, radiographs were compared with computed tomography, sonography and histology. Computed tomography detects nephrocalcinosis at a very early stage of the disease, gives a better picture of the density and extent of nephrocalcinosis and may detect other findings (e. g. cysts). Radiographs may show many more details than computed tomography; they seem to be more suitable for observing the course of the disease and have a lower radiation dose. Sonography has not been helpful in the diagnosis of nephrocalcinosis. Histology correlates only moderately with the degree of nephrocalcinosis demonstrated in radiographs and computed tomography.

Adolescent↗
PubMed1980

[Haemofiltration in children. First experiences (author's transl)].

Haemofiltration was used in 12 children with terminal chronic renal failure. This method is an alternative for short-term treatment of renal failure by haemodialysis and can be combined with the single-needle-technique. It was also used in a 2 years old girl with acute renal failure. The main advantages of haemofiltration versus haemodialysis are a more rapid removal of fluid in the presence of stable blood pressure readings and a good tolerance by the patient. The primary indication for haemofiltration is hypervolaemia. The high water and salt losses during the procedure have to be exactly calculated and substituted. According to our current experience the volume needed for substitution of filtrate by fluid to be infused i.v. has to be in the range of 50% of body weight.

Acute Kidney Injury↗