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Biomedical subjects

H Somer

Publications and source records attributed to H Somer.

At least 91 records · Page 5Linked to original sources
PubMed1986

Neuronal intranuclear inclusion disease. Clinical ophthalmological features and ophthalmic pathology.

Monozygotic twin sisters were afflicted by a chronic progressive neurological disease characterized by slurred speech, nystagmus and oculogyral spasms as well as further extrapyramidal and lower motor neuron abnormalities. At autopsy severe loss of nigral and craniospinal motor neurons was noted. In the nuclei of most nerve cell types of the central and peripheral nervous system, roundish inclusion bodies of 3 to 10 microns in diameter were found. Ocular pathology revealed the presence of identical inclusion bodies in the ganglion cells and ganglion cell loss in the posterior retina. Retinal astrocytosis and loss of myelinated axons of the optic nerve were interpreted as reactive features. No inclusions were found in the retinal pigment epithelium. Careful neuro-ophthalmological studies of the first-degree relatives revealed low b-wave of the ERG with other slight aberrations. These were assumed to represent either a carrier or a subclinical state of this presumably inherited disorder.

Adolescent↗
PubMed1986

Three different pathogenic mechanisms for paraparesis in association with bacterial infections.

Three different pathogenic mechanisms are apparent for paraparesis in association with a bacterial infection: a spinal cord compression caused by either an epidural abscess or a vertebral collapse due to spondylitis, an ischaemic spinal cord lesion as a result of septic thromboembolus in abdominal aorta, and a nonspecific, probably immunological, cause in association with reactive polyarthritis. An example of each of these mechanisms is described by means of case histories.

Adult↗
PubMed1985

Morbid obesity, gastric plication and a severe neurological deficit.

A 39-year-old man had protracted vomiting after gastric plication for morbid obesity. Within three months he lost 53 kg in weight and developed neuromuscular weakness, especially in the lower extremities. Clinical and laboratory studies suggested both radicular and peripheral neuropathy. One year later the condition was only marginally improved: he took only few steps unsupported. The apparent etiology is malnutrition but the primary cause remained unknown.

Adult↗
PubMed1985

Systemic manifestations and enzyme studies in sarcoidosis with neurologic involvement.

The dissemination and activity of systemic disease was evaluated retrospectively in 50 patients with neurosarcoidosis, 24 of whom presented with neurologic symptoms. During follow-up, five patients never developed detectable systemic disease. In 26 patients, sarcoidosis had previously been diagnosed, but in 11 (42%) of them the neurologic symptoms were initially not connected with this disease. During follow-up, extraneural features were those of sarcoidosis in general. However, 23 patients (46%) had normal chest X-ray on admission to neurologic examinations. Fourteen (35%) of 40 examined patients had ocular changes, 13 (33%) of 39 hypercalciuria and 13 (26%) of 50 skin manifestations. Serum angiotensin converting enzyme (ACE) was elevated in only 31% of the patients. Measureable amounts of ACE were recorded in the cerebrospinal fluid from 13 of 17 examined patients. During follow-up the activity of neurosarcoidosis seemed to be linked to the course of systemic disease in general.

Adolescent↗
PubMed1985

Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance.

Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85-fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.

Creatine Kinase↗
PubMed1985

Angiotensin converting enzyme in cerebrospinal fluid: a new assay.

Serum and CSF angiotensin converting enzyme (ACE) were measured by a new inhibitor binding assay in 32 patients with sarcoidosis, 49 with neurologic diseases, and 38 controls. In neurosarcoidosis, 11 of 20 patients had high levels of CSF ACE. In systemic sarcoidosis without neurologic abnormality, only 1 of 12 patients had elevated CSF ACE. The highest value was observed in a patient with widespread meningeal sarcoidosis. High values were also observed in patients with bacterial meningitis or malignant tumors of the CNS. Fluctuation in successive analyses correlated to clinical course of neurosarcoidosis. CSF ACE analysis seems useful in diagnosis and follow-up of neurosarcoidosis.

Adolescent↗
PubMed1984

Neuronal intranuclear inclusion disease in identical twins.

A pair of female identical twins exhibited slurred speech, nystagmus, and oculogyral spasms starting at age 11. The patients then had episodic rage, extrapyramidal and lower motor neuron abnormalities, and grand mal seizures, but retained largely normal intelligence, until death at age 21. Severe loss of nigral and craniospinal motor neurons was noted postmortem. Round, eosinophilic, autofluorescent inclusion bodies, 3 to 10 microns in diameter, were observed in the nuclei of most nerve cell types of the central and peripheral nervous systems and retina. Ultrastructurally the inclusions appeared as masses of filaments without a limiting membrane, the constituent filaments having a diameter of 8.5 to 9.5 nm. Histochemical results suggested the presence of proteins with a high content of tryptophan. Four similar cases have been reported previously under various designations. We propose the name neuronal intranuclear inclusion disease for the disorder.

Adult↗
PubMed1983

Erythrocyte flexibility, ATPase activities and Ca efflux in patients with Duchenne muscular dystrophy, myotonic muscular dystrophy and congenital myotonia.

Erythrocyte flexibility measured by a polycarbonate membrane filtration method showed increased fragility (265 +/- 163 Hb mg/l vs. controls 86 +/- 72 Hb mg/l; mean +/- SD; P less than 0.0025) and increased rigidity (123 +/- 96 mm Hg vs. 79 +/- 19 mm Hg; P less than 0.05) in patients with congenital myotonia, while both parameters were normal in patients with Duchenne muscular dystrophy or with myotonic dystrophy. Erythrocyte ghosts obtained from patients with MyD displayed highly significant increases in both (Na+ + K+)-ATPase and (Ca2+ + Mg2+)-ATPase activities (P less than 0.005) and to a lesser extent in Mg2+-ATPase activity (P less than 0.05), while no difference was seen between patients with DMD and age-matched controls. The efflux of Ca2+ was increased from erythrocytes of patients with DMD as compared to age-matched controls (82 +/- 2% vs. 70 +/- 4%; P less than 0.005), while no difference was detected between patients with MyD and age-matched controls.

Adenosine Triphosphatases↗
PubMed1983

Acute myopathy associated with gasoline sniffing.

Acute myopathy and myoglobinuria with markedly elevated creatine kinase (CK) activity developed in an 18-year-old boy on two occasions after gasoline sniffing. No signs of CNS involvement were seen, and the symptoms receded in a few days. The amount of lead in blood and urine exceeded the reference value for subjects with occupational exposure. The component of gasoline that was responsible for the myopathy remains unknown. Acute myoglobinuria appears to be a rare complication of gasoline sniffing.

Acute Disease↗