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Biomedical subjects

K Setälä

Publications and source records attributed to K Setälä.

At least 19 recordsLinked to original sources
PubMed1995

Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree.

Neurofibromatosis 2 (NF2), a dominantly inherited disorder, typically manifests as bilateral vestibular schwannomas and predisposes to other nervous system tumors. In this study, we present a large pedigree with a benign course of NF2 (mild Gardner type) characterized by slowly growing vestibular schwannomas but few other manifestations. The family was thoroughly investigated with neurologic, ophthalmologic, and neuro-otologic methods including gadolinium-enhanced MRI of the head and spine and DNA linkage analysis. In the clinical analysis of 22 family members, MRI was superior to neuro-otologic methods in the detection of asymptomatic tumors. Based on the DNA linkage analyses we identified the NF2 mutation carriers with a high degree of certainty. These DNA markers (CRYB2, NEFH, D22S268, and D22S280) can also be used for presymptomatic diagnosis in other NF2 families. Early detection of NF2 gene mutation carriers has become possible using linkage analysis in familial NF2. MRI screening of carriers will reveal presymptomatic vestibular schwannomas (and other CNS tumors), making early intervention possible, but an efficient treatment strategy to prevent deafness has not yet been established.

Adult↗
PubMed1992

The value of visual evoked potentials in optic neuropathy of Graves' disease.

Visual evoked potentials (VEP) were tested in patients with ophthalmopathy (OP) of Graves' disease (GD) before treatment and half-a-year and 5-7 yr after orbital decompression (7 patients) or retrobulbar irradiation (3 patients). Five patients not requiring treatment for OP and 16 healthy subjects served as controls. Treatment of OP was given on clinical grounds including decreased visual acuity (VA) indicating optic neuropathy. Before treatment VA was decreased in 5 out of 19 eyes whereas VEP were abnormal in all. The mean latency at N60 both in the operated (83.1 +/- 21.6 ms) and in the irradiated groups (80.9 +/- 7.0 ms) was significantly different from that in the untreated group (62.6 +/- 8.2 ms; p < 0.001) and the healthy subjects (58.9 +/- 6.3; p < 0.001). At P120 only the latency of the operated group differed significantly from that of the other groups (p < 0.001). There was a relationship between the eye muscle changes seen on CT scans and the ophthalmopathy score (according to the classification of the American Thyroid Association) and the latency both at N60 and P120. A change from a V-shape to a W-shape of the waves occurred more often in the treated patients before therapy than in the other groups. Two patients had multiphase VEP in both eyes which improved after treatment. After adequate clinical response the visual acuity improved in one of the 5 patients with initially depressed VA. VEP, initially abnormal in all, improved in 7 of the 19 eyes (37%) but further deterioration was observed in 8 (42%).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1992

Visual evoked potentials after retrobulbar or periocular anaesthesia.

The effect of the local anaesthetic agent, etidocaine, on the optic nerve function was examined at regional ophthalmic anaesthesia. Visual evoked potential (VEP) was recorded before and 15 minutes after injection of the anaesthetic agent in 19 patients scheduled for elective cataract surgery (seven retrobulbar and 12 periocular). Both the anaesthetised--that is, the eye to be operated on--and the fellow eye were examined. In the retrobulbar group, two patients displayed non-recordable VEPs while one had virtually non-detectable waves following the anaesthesia. In two retrobulbarly anaesthetised eyes, later peaks were unidentifiable while two other eyes had decreased amplitudes. In the periocular group, in nine patients, there was no clearcut effect on VEP resulting from the anaesthetic. In three patients of this group mild changes in the anaesthetised eyes were found. The differences in the effect of retrobulbarly or periocularly injected anaesthetics on VEP are probably due to the different concentration of the anaesthetic agent around the optic nerve.

Aged↗
PubMed1991

Visual evoked potentials in Basedow's ophthalmopathy before and after orbital decompression or retrobulbar irradiation.

VEP are an objective and a more sensitive sign of optical neuropathy in Graves' ophthalmopathy than is visual acuity. A correlation exists between VEP and the changes in the external eye muscles as visualized on CT scans. VEP should always be registered if CT changes are present. Improvement of optic neuropathy as evaluated from VEP seems to be remarkably infrequent.

Evoked Potentials, Visual↗
PubMed1990

Corneal endothelium in pigmentary glaucoma and pigment dispersion syndrome.

Corneal endothelial cell density was determined in 64 eyes (32 patients) with pigmentary glaucoma and in 18 eyes (9 persons) with pigment dispersion syndrome without glaucoma. Twenty-eight healthy eyes served as controls. The glaucomas were stabilized with topical treatment or following laser trabeculoplasty or filtration surgery. The mean duration of the glaucoma was 7.6 years (SD 6.1 years) subsequent to diagnosis. Neither in the glaucomatous, nor in the pigment dispersion syndrome eyes, could any statistically significant difference in cell density be noted compared to the control series. Within the glaucoma group pressure level, topical treatment, laser trabeculoplasty and trabeculectomy did not have any statistically significant effect on cell counts. Distinct pleomorphism and polymegatism of the endothelial cells were observed in the study groups. The endothelial cell density decreased linearly with age.

Adult↗
PubMed1990

Effect of sodium hyaluronate on immediate postoperative intraocular pressure after extracapsular cataract extraction and IOL implantation.

We studied 129 eyes which were undergoing extracapsular cataract extraction with IOL-implantation. The amount of residual Healon had a clearcut effect on the IOP elevations postoperatively. In eyes operated on with the intercapsular techniques, pressure elevations and the mean values during the first 6 postoperative hours were significantly higher than in eyes operated on with the planned ECCE (can opener-technique) (P less than 0.01). The pressure elevation reached the maximal values 8-12 h postoperatively and had normalized already at 24 h in most cases, except in glaucomatous eyes which at that time had significantly higher mean IOP values than the non-glaucomatous eyes (P less than 0.01). When operations were done with an air bubble no clearcut postoperative pressure increases could be observed. Our study indicates that a comparatively small amount of Healon may cause a pressure elevation and the amount left in the eye has a greater effect upon the level of the pressure than the duration of the pressure elevation. The less we inject Healon into the eye and the more we avoid leaving it there, the less risk we have of the possibility of vision deteriorating high postoperative intraocular pressure.

Aged↗
PubMed1990

Long-term treatment of involuntary facial spasms using botulinum toxin.

Botulinum toxin, a powerful pre-synaptic neurotoxin produced by Clostridium botulinum, interferes with the release of acetylcholine from nerve terminals. Since September 1985, we have been using this toxin to treat altogether 62 patients with benign facial spasms. Most of the patients had been on drugs or psychotherapy, 2 had received alcohol injections, 2 had undergone surgery of the orbicular branch, and 2 electrocoagulation of the facial nerve. In essential blepharospasm the duration of the beneficial effect after each treatment with botulinum toxin was about 3 1/2 months. In patients with hemifacial spasm the response was clearly longer, nearly 5 months in most cases. The treatment gave the best and longest-lasting relief of symptoms in patients suffering from disturbing myokymia. Response was poorest in patients suffering from facial spasms who simultaneously had a severe psychiatric disease. The most frequent side effect was mild or moderate ptosis (22.6%). Some patients complained of dry eyes and a few cases displayed facial nerve paresis. Side effects caused by botulinum toxin injections are transient but so also, unfortunately, is the beneficial effect on facial spasms.

Adult↗
PubMed1990

Granular corneal dystrophy with early stromal manifestation. A clinical and electron microscopical study.

We describe a family tree from central Finland with 19 members of which 10 had typical granular corneal dystrophy (Bücklers 1938). This granular dystrophy seems to start from the subepithelial and anterior stromal region. In quite early ages the granules spread not only into the midstromal layers but also into the most posterior stroma between the stromal lamellae and Descemet's membrane. Corneal epithelial erosions were not noticed in this family. The central cornea was mostly affected and 2-3 mm of the corneal periphery was clear. No endothelial changes were found from the corneal midperiphery by specular microscopy. To date, two female patients have needed penetrating keratoplasty; one in her late thirties and the other in her early forties. Their corneal buttons were studied by electron microscopy and histochemically. Granular material was found between the stromal lamellae and also inside the stromal keratocytes. Bowman's membrane was disrupted and degenerated in the areas where the deposits were situated in the subepithelial region. Recurrence of the disease was observed in the corneal transplants of the two operated patients 3 years postoperatively, starting again in the subepithelial region and mostly in central areas of the transplant. This disease entity seems to be different from the granular dystrophy also reported from Finland by Forsius et al. (1983).

Adolescent↗
PubMed1989

Silicone oil in retinal detachment surgery. Results and complications.

Results and complications with the use of intraocular silicone oil in 25 eyes operated on for complicated retinal detachment are reported. Most eyes had undergone several operations for detachment before silicone injection. The follow-up time after silicone injection was 12-48 months. In perforating injuries the outcome was quite poor, 27% received anatomic success (attached retina) compared to primary rhegmatogenous detachments with 57% success rate. Visual acuity was counting fingers 1 m or better in 56% in the whole group examined. Silicone oil was removed in 5 eyes. Of the late complications, keratopathy occurred in 3 eyes (12%), increased intraocular pressure in 4 eyes (16%), and cataract in 2 of 3 phakic eyes. Angiographic signs of iris neovascularization were obvious or suspected in 3 of 9 eyes examined.

Adolescent↗
PubMed1989

Changes in corneal endothelium after treatment of retinal detachment with intraocular silicone oil.

Keratopathy represents one of the most frequent late complications in eyes with complicated retinal detachment treated with intraocular silicone oil. Corneal examinations including endothelial specular photography were done on 18 silicone treated eyes, 16 of which were aphakic. In addition to widespread silicone oil endothelial contact in 2 eyes, a bubble or droplets of silicone oil were observed in the anterior chamber in 8 eyes. The mean endothelial cell density was lower in the silicone eyes (2076 +/- 196 cells/mm2) as compared to the control fellow eyes (2738 +/- 86 cells/mm2) (P = 0.004). In eyes with silicone oil in the anterior chamber the endothelial cell density was significantly decreased (1857 +/- 232 cells/mm2) (P = 0.005). Obvious endothelial degeneration was noticed when silicone oil had been in the eye for more than a year. Also small droplets of oil with transient contact contributed to its development.

Adolescent↗
PubMed1989

Contact lens intolerance induced by DM rupture and secondary endothelial degeneration. A specular microscopic study.

Breaks or tears in the endothelium and Descemet's membrane (DM) are easily noticed in exact biomicroscopical ophthalmological examination. We present 2 patients with a large unilateral horizontal rupture in Descemet's membrane and abnormal corneal endothelia. In the area of the rupture the endothelial mosaic was highly abnormal, and there was no cell reflex. At the site of the rupture and at the periphery of the cornea of the affected eye the endothelial cell density was distinctly lowered, with pleomorphism and polymegathism. In an eye with a DM rupture and degenerated endothelium, difficulties in contact lens wear seem to be due to the hypoxia caused by soft contact lenses. For such patients, only gas-permeable hard lenses with short wearing times should be recommended. Check-ups should be frequent and meticulous. To ensure that endothelial degeneration is noticed well before corneal damage is clinically evident, the endothelial cells must be counted and changes sought for by specular microscopy.

Adolescent↗
PubMed1989

Alport syndrome with hereditary macular degeneration.

We present two patients, a mother and son, with Alport's syndrome (hereditary nephritis and perceptive deafness). Only the son had the typical lenticonus and perimacular flecks. Both patients had macular degeneration, the clinical manifestation of which resembled that seen in cone dystrophy. Colour vision was affected, the cone-mediated b-wave implicit times were increased in mother and in both her eyes the amplitudes were small, both to single flash stimuli and to 30 Hz white flicker. The macular changes in the son, though slight, were similar to those seen in the mother.

Adult↗
PubMed1989

Acute bilateral corneal hydrops caused by high temperature and high moisture in the Finnish sauna. A clinical and histological case report of a patient with keratoconus.

A 44-year-old healthy male with bilateral keratoconus developed acute hydrops of both his corneas with an interval of 3 years. On both occasions he had bathed in a hot, humid Finnish sauna the preceding evening. Penetrating keratoplasty had to be performed in the acute stage in both instances, as medical therapy brought no improvement. The contributory role of hot, moist air to the development of acute hydrops is discussed. Histopathological examination of the corneal buttons revealed clear-cut breaks in Descemet's membrane with marked posterior stromal oedema.

Acute Disease↗
PubMed1989

Orbital metastasis from cutaneous malignant melanoma.

Orbital metastasis is a rare presenting sign of a cutaneous malignant melanoma. Fewer than 30 cases of orbital metastases have been published so far. A 69-year-old man was remitted to our clinic for removal of an orbital tumour verified with CT. Fine-needle aspiration biopsy revealed the tumour to be a metastasis from a cutaneous malignant melanoma diagnosed 4 years earlier. The patient died 3 months after detection of the orbital metastatic tumour. This case illustrates the value of simple fine-needle aspiration biopsy in the diagnosis of orbital tumours.

Aged↗
PubMed1988

Respiratory arrest after retrobulbar block.

We describe a patient who suffered respiratory arrest some minutes after retrobulbar block before cataract extraction. She was managed by artificial respiration for 20 min, and after the had recovered from this potentially fatal complication cataract extraction was performed without complications and without any neurological sequelae. Retrobulbar blocks, as well as other retrobulbar, injections, should be performed only in safe situations. Individuals trained in airway maintenance and ventilatory support should be immediately available, and the patient must be monitored for at least 10 min after the retrobulbar injection.

Adult↗
PubMed1988

Long-term follow-up of cryopreserved corneal endothelium. A specular microscopic study.

This paper deals with the long-term survival of corneal transplant endothelial cells. Endothelia of 17 cryopreserved corneal transplants were photographed with a specular microscope, first 1.5 years (mean) following transplantation, and again 10 years later. All transplants were absolutely clear. The mean cell loss was 23% in 12 years. After 2 to 14 years post-operatively the cell loss was noticed to be only 13.6% (from 990 +/- 255 cells/mm2 to 855 +/- 213 cells/mm2). It seems that endothelial cells of cryopreserved corneal grafts, although few in number, are still quite resistant and viable after a long follow-up time and survive like endothelial cells after preservation in tissue culture media.

Adult↗