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Biomedical subjects

R Heene

Publications and source records attributed to R Heene.

At least 19 recordsLinked to original sources
PubMed2000

[Christiane vs. Goethe's final illness].

This paper deals with the diseases of Christiane, Goethe's wife, during the period of their marriage (1806-1816). Recurrent stomach complaints, due perhaps to gastro-duodenitis or an ulcer, were, it is suggested, of psychosomatic origin. They might have resulted from an intrinsic conflict between Christiane's unsatisfied desire for nearness and Goethe's absolute insistence on periods of distance and seclusion for the sake of his creative work. In contrast to this, Christiane's final illness was organic in nature. Contemporary records clearly indicate that she was suffering, not from suspected cerebrovascular accidents, but from the late form of symptomatic epilepsy with single grand mal seizures documented in 1815. In May/June 1816 these gave way to a series of grand mal seizures continuing into a malignant grand mal state, from which she never recovered. Pathogenetic aspects of the disease, allowing for the hypothesis of a latent infantile cerebral paresis together with the proven alcohol consumption are discussed and, in particular, the reasons why the correct diagnosis has been missed by posterity, even though it was clearly pointed out by Möbius as long ago as 1903. It is suggested that persistent irrational and unobjective prejudices relating to epilepsy, to Christiane's personality and last but not least to Möbius' pathographic approach have, up to the present, led to a dismissal of the true diagnosis of Christiane v. Goethe's final illness.

Famous Persons↗
PubMed1996

[Chronic progressive spinobulbar spasticity (primary lateral sclerosis)].

This paper presents an account of chronic-progressive Spinobulbar Spasticity (SBS) or Primary Lateral Sclerosis (PLS), a rare syndrome involving degeneration of the upper motoneuron, on the basis of 6 clinically examined cases. Individuals of both sexes can be affected. Onset of the syndrome occurs around the age of 54, but may sometimes be before 50. Early symptoms of the disease are spasticity on one leg and disturbance of motor skills in one hand. The symptoms generalize within two to three years into tetraspasticity accentuated in the legs, accompanied by pseudo-bulbar dysarthria and dysphagia, which, however, may also be present at the onset of the disease. Compulsive laughing and crying, optokinetic disturbances and facial stiffness develop as additional, though inconstant symptoms. Disease courses of 25 years were observed. Therapy is symptomatic. Fasciculation and muscular atrophy, which would indicate a transition to Amyotrophic Lateral Sclerosis (ALS), were not observed even if the disease was of longstanding. SBS differs from spastic spinal paralysis by virtue of its greater mean age of incidence, its tetraspasticity in conjunction with pseudobulbar signs, and-so far as can be established to date-its apparent non-hereditariness. An influence of exotoxic factors has not been demonstrated so far. The clinical syndrome results from a selective degeneration of the corticospinal and cortico-bulbar tracts up to the motor cortex, where loss of original pyramidal cells has been shown to occur (Pringle et al., 1992). The paper includes a survey of the clinical and neuropathological findings in cases of SBS published so far. Extensive anamnestic and clinical records including TCMS-studies, PET and NMR-CT scans performed in the parasagittal plane are essential for early diagnosis of the syndrome.

Aged↗
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↗
PubMed1984

Mailing muscle biopsy samples for histochemical processing. Conditions and morphometric approach to the alterations induced by storage.

Muscle samples obtained in patients with different neuromuscular diseases were stored at 0 degree C for periods of 6-12h and were subsequently frozen for histochemical processing. Compared to reference samples which had been immediately frozen, the individual test sections displayed different degrees of swelling of the muscle fibres. After 12h of storage the mean diameters had increased by 20% in type-1 and type-2A fibres and by 16% in type-2B fibres. With shorter periods type-2B fibres also showed the smallest amounts of increase in mean fibre diameter. The distribution of fibre diameters, variability coefficients and atrophy and hypertrophy factors showed corresponding changes but rarely fell outside the range defined from the reference sections. The histological, histochemical and cytological quality of the sections remained satisfactory. The decrease in glycogen content during storage appeared to be crucial. Time for mailing samples can be extended up to 27h without essential loss of histo-and cytochemical quality of the sections at the light microscopic level.

Adult↗
PubMed1979

Influence of temperature on isometric contraction and passive muscular tension in paramyotonia congenita (Eulenburg).

Four patients without symptoms of episodic hyperkalemic weakness from two families with paramyotonia congenita (Eulenburg) are described. 1. Maximum voluntary muscle contraction of the upper and lower arm was studied under isometric conditions at different temperatures. If the temperature was lowered stepwise, distinct paresis occured at 32--31 degrees C which increased with the amount of muscular effort. The upper arm muscles, however, developed weakness gradually after cooling. 2. During cooling of the resting muscle, the EMG showed dense spontaneous activity of the fibrillary type, which decreased again at about 30 degrees C. It can be assumed that in paramyotonia congenita cooling produces muscle cell membrane depolarization which at a critical level causes the firing of action potentials and finally muscular paresis. 3. Increasing muscular stiffness can be interpreted as abnormally slow muscular relaxation after isometric contraction. In the forearm muscles the time to 3/4 relaxation after cooling was about six times normal, in the upper arm muscles only two times normal. As an additional parameter the mechanical resistance to passive stretching of a muscle has been studied. This passive muscular tension increased simultaneously with the onset of weakness. 4. The close relation between weakness and stiffness suggest that both symptoms are caused by the same basic defect which is probably located in the sarcolemma. It is suggested that a defect of the sodium channel causes a cooling-dependent increase in sodium conductance. Raised intracellular sodium causes in the first place membrane depolarization, and in the second place depression of calcium reuptake through competition by sodium for calcium binding sites. This would explain muscle stiffness and delayed relaxation as well.

Arm↗
PubMed1976

The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult.

The mild, generalized myopathy (glycogenosis type II) of a 23-year-old male, previously thought to have progressive muscular dystrophy, was studied clinically, electro-myographically, biochemically and with light- and electron microscopes. However, the history and clinical aspects, as well as the registration of high frequency discharges in the electromyogram first made the diagnosis uncertain. This kind of spontaneous activity has been found in nearly all cases reported in the literature. Light microscopic and histochemical examinations show vacular degeneration and glycogen storage in muscle fibres. With the electron microscope we found free dispersed glycogen in the cytoplasm and membrane-bound glycogen, glycogen-filled lysosomes. Biochemical measurements of the muscle enzymes, involved in the glycogen breakdown, were normal except for acid alpha-1,4-glucosidase, which was deficient. The evidence of these findings in this abortive form of glycogenosis type II is discussed and compared with the few cases found in the literature.

Adult↗
PubMed1975

[Mitochondrial changes of the skeletal muscle in the peroneal muscular atrophy (Charcot-Marie-Tooth disease). Histological and electron microscopic studies (author's transl)].

This report deals with two sisters (38 and 44 years old) suffering from Charcot-Marie-Tooth disease. Muscle biopsies were taken from the deltoid and the rectus femoris. In one of the cases a sural nerve biopsy was also made. Light microscopy showed only slight myopathic changes. The histochemical reactions disclosed an increase in lipid deposition and in NADH-TR activity of type 1 fibres. Electron microscopy showed abnormal mitochondrial aggregates, which were surrounded inconstantly by glycogen deposits, especially in subsarcolemmal space. Many of the atypical mitochondria showed paracristalline inclusions within the cristae. The significance of these findings is discussed and compared with similar reports in the literature.

Adult↗