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Biomedical subjects

M Haltia

Publications and source records attributed to M Haltia.

At least 145 records · Page 8Linked to original sources

Conjunctival nerve pathology in multiple endocrine neoplasia. A case report.

A 31-year-old male with typical clinical features of multiple endocrine neoplasia type 2b (MEN 2b) was subjected to conjunctival biopsy. The patient had previously been operated for pheochromocytoma and medullary carcinoma of the thyroid. He came for ophthalmologic consultation because of redness and irritation of the eye due to dry eye syndrome. The conjunctival biopsy taken from his left eye revealed not only an increase in the number of conjunctival nerves but also an increase of their axons. The ultrastructure of the nerves was mostly normal, but the perineurium was often incomplete, and the interaxonal space appeared to be enlarged. Immunohistochemically, SP-, neurofilament- and, unexpectedly, leucine-enkephalin-positive nerve fibres were demonstrated in the conjunctival stroma. The rat is the only species in which enkephalin-like immunoreactivity has been described in the anterior segment of the eye. Thus, the presence of enkephalin-positive nerves in the conjunctiva of our MEN 2b patient may reflect a profound neural alteration.

Adult↗

Hormone treatment of meningiomas: lack of response to medroxyprogesterone acetate (MPA). A pilot study of five cases.

Medroxyprogesterone acetate (MPA) has been used in high doses as hormone treatment for metastatic breast cancer. We treated five intracranial meningiomas with MPA expecting that MPA would reduce the volume or decrease the growth rate. All five patients were postmenopausal women, aged 47 to 73 years. Before treatment, the growth rate of each tumour was assessed by two consecutive CT scans (CT 1 and CT 2). Tumours 1 to 4, histologically benign meningiomas, grew slowly as the tumour volumes were not found to increase in 21 to 45 months between CT 1 and CT 2. Tumour 5 was an anaplastic meningioma the rapid growth of which was evident in 8 weeks between CT 1 and CT 2. After CT 2, MPA was given 1,000 mg intramusculary once weekly for 17 to 29 weeks until CT 3 which showed the response. Tumours 1 to 4 had neither reduced in volume nor developed necroses, and tumour 5 continued its fast growth at the same rate as before.

Aged↗

Atypical and anaplastic meningiomas: radiology, surgery, radiotherapy, and outcome.

Out of 936 primary intracranial meningiomas, 94.3% were histologically benign (grade I), 4.7% atypical (grade II), and 1.0% anaplastic (grade III); one recurrence was sarcomatous (grade IV). Meningiomas with histologic anaplasia (grades II-IV) occurred in 12% of the men, but only 4% of the women. Only 26% of atypical or anaplastic meningiomas appeared completely innocent on a computed tomography scan. Angiograms, usually showing a meningeal feeding artery, suggested meningioma when computed tomography scans did not. At 5 years after complete removal, the recurrence rate was only 3% (21% at 25 years) for benign meningiomas, but 38% for atypical ones, and 78% for anaplastic ones. The median times to recurrence were 7.5, 2.4, and 3.5 years, respectively. In spite of postoperative radiotherapy, four of five anaplastic meningiomas recurred.

Adult↗

Antibodies to the capsular polysaccharide of Neisseria meningitidis group B or E. coli K1 bind to the brains of infant rats in vitro but not in vivo.

The binding of monoclonal and polyclonal IgG antibodies specific to the capsular polysaccharide of Neisseria meningitidis group B and E. coli K1 was tested to the cross-reacting polysialosyl structures previously shown to be present in the brain of infant rats (Lancet 1983; ii: 355-7). Strong immunofluorescence was obtained after in vitro incubation of the brains of 1 to 13 days old rats with the antibodies whereas the brains of adult rats remained negative. The number of antibody-binding structures decreased as a function of age, being highest at the age of 1 to 5 days. However, when the same antibodies were injected intraperitoneally into the infant rat, or into the mother rat 2 days before parturition, no binding of antibodies to the infant rat brain tissue was observed.

Animals↗

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↗

[Not Available].

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Finland↗

Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria.

A 26-yr-old female with increased urinary excretion of free N-acetylneuraminic acid is described. Her early history was normal but she had difficulties at school and developed epilepsy at 14. She is mildly retarded, has slight changes in the spine, but no hepato- or splenomegaly. Cerebrospinal fluid leucocytes and IgG are elevated. Liver and skin biopsies disclosed no morphological abnormality. The daily excretion of free N-acetylneuraminic acid is ca. 0.5 g, intermediate to that found in other known types of sialuria. The clinical and morphological findings are also different suggesting a novel type of sialuria.

Adult↗

Diagnosis of intracranial haemangiopericytomas with angiography and CT scanning.

Twenty-one primary intracranial haemangiopericytomas (HPC) were operated on from 1953 to 1983. The mean age of the 12 male and nine female patients was 38 years (17-64). Plain skull films showed well-defined bone destruction in two patients. Angiograms of 18 tumours (14 primary and four recurrent) showed the following when analysed according to the criteria of Marc et al. [4]: dual arterial supply (17/18), one-three main feeders giving rise to many irregular corkscrewlike vessels (16/18), dense, well-defined and long-lasting tumour strain (17/18), but early venous drainage rarely (1/18). The overall impression was that eight tumours appeared to be typical HPCs on angiogram. Five tumours had suggestive features, though not enough to justify specific angiographic diagnosis, and five were more like classical meningiomas. The larger tumours were more typical of HPCs, the smaller ones resembled meningiomas. CT scans of eight tumours (three primary and five recurrent) were available. The tumours were attached with a broad base to the convexity or other dural surfaces, often bilaterally. No calcifications were seen. There was little, if any, surrounding oedema. Contrast enhancement was strong and homogeneous. Four of the tumours were ring like, but the ring was thick and regular, in contrast to that in glioblastomas. The tumour margin was well-defined and smooth in three tumours, and nodular margins were seen in five; two of the latter grew extensively along dural surfaces. This sign may suggest aggressive biological behaviour. If both angiograms and CT scans are available, HPCs can be differentiated from glioblastomas and classical meningiomas, but perhaps not from anaplastic meningiomas.

Adolescent↗

Glial filaments are a major brain fraction in infantile neuronal ceroid-lipofuscinosis.

Extremely severe gliosis develops at the end stage of infantile neuronal ceroid-lipofuscinosis (INCL), a fatal encephalopathy characterized by accumulation of autofluorescent storage material in the brain and other tissues followed by a terminal subtotal neuronal and myelin loss. A major fraction of highly enriched intermediate filaments was obtained with a density gradient centrifugation method from INCL brain tissue, whereas the storage material represented only a minor fraction. SDS-polyacrylamide gel electrophoresis of the filament fraction showed a major protein with molecular weight of 51 kD and three to four polypeptides of 40-48 kD identified as glial fibrillary acidic protein (GFAP) and its degradation products by the immunoblotting technique with monoclonal antibodies against GFAP. Immunization experiments with the isolated INCL glial filament fraction produced antibodies reacting only with GFAP but not with other types of intermediate filament proteins, furthermore indicating a high content of GFAP in the isolated fraction. No significant amounts of vimentin or other types of intermediate filament proteins could be detected. These results document the extremely high content of glial filaments at the terminal stage of INCL and suggest that INCL brain may serve as a good human model for studies on the composition of glial filaments in vivo and on the pathogenesis of gliosis.

Brain↗

Intracranial hemangiopericytoma: radiology, surgery, radiotherapy, and outcome in 21 patients.

At operation, 21 meningeal intracranial hemangiopericytomas resembled meningiomas, but differed histologically. They were frequently attached to sinuses, occipitally located, bled profusely at operation, and had a higher risk of recurrence and metastasis. Specific preoperative diagnosis is possible: computed tomography scan showed a meningiomalike tumor, which on the angiogram looked malignant and highly vascular. Two tumors showed a malignant growth pattern on computed tomography scan, "mushrooming." After a radical removal, three patients have lived for more than 10 years without recurrence; two of them were irradiated postoperatively. Three recurrent tumors were treated with radiotherapy only; one responded favorably.

Adolescent↗

The growth rate of intracranial meningiomas and its relation to histology. An analysis of 43 patients.

The growth rate of intracranial meningiomas was studied in 43 patients against a histologic grading based on the degree of anaplasia. The mean time for doubling of the tumor volume was 415 days (138-1045) in grade I (benign), 178 days (34-551) in grade II (atypical), and 205 days (30-472) in grade III (anaplastic). The difference between grade I and the combined grades II-III was highly significant. Both the mitotic index and the absence of calcification on the computed tomography scan correlated strongly with the doubling time. The growth rate should be carefully considered in planning therapy and timing computed tomography studies for patients with meningioma.

Adolescent↗

Erythropoietin and renin substrate in cerebellar haemangioblastoma.

We examined eight cerebellar haemangioblastoma tumours from eight patients, aged 16-63 years, 5 females and 3 males. Preoperative haemoglobin values exceeded 180 g/l in four patients, and 150 g/l in four. All high Hb values were normalized upon surgical removal of the tumours. All tumours contained scattered cells which stained positively with antisera against pure human urinary erythropoietin and plasma renin substrate. We conclude that cerebellar haemangioblastomas produce immunoreactive erythropoietin, which shares common antigenic determinants with renin substrate.

Adolescent↗

Hereditary recurrent brachial plexus neuropathy with dysmorphic features.

A Finnish pedigree comprising 13 members in 3 generations with recurrent brachial plexus neuropathy is described. The disease was characterized by repeated attacks of pain in the upper limb/shoulder region, followed by muscle weakness and atrophy. The first episode usually occurred in childhood after a mild infection. Symptoms varied in intensity and seldom left marked neurological deficiencies. Patients had typical features including hypotelorism, small palpebral fissures and a small oral opening. The distribution of the affected members in the pedigree was compatible with autosomal dominant inheritance with high penetrance. Despite the limitation of the symptoms to the upper limbs, sural nerve biopsy showed tomaculous neuropathy in an affected member of the family. The structural changes of tomaculous neuropathy probably reflect a genetically determined generalized abnormality of the Schwann cells predisposing the patients to the recurrent palsies by exogenous factors.

Abnormalities, Multiple↗

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↗