Search PubMed⌕ Search

Biomedical subjects

R Unsöld

Publications and source records attributed to R Unsöld.

At least 19 recordsLinked to original sources
PubMed1999

Etiology and pathogenetic mechanisms of optic disc swelling with visual loss. An interdisciplinary prospective pilot study of 102 cases.

A nonrandomized, prospective, interdisciplinary pilot study of 102 patients with noncompressive optic disc swelling with visual loss (ODSWVL) was performed in order to investigate etiologic and pathogenetic mechanisms. Forty-six patients suffered from underlying inflammatory disease. Seventeen patients suffered from highly probable cardiogenic embolization, 16 patients from multiple vascular risk factors. The remaining patients of the noninflammatory disease group suffered from leukemia, previously unknown or severely decompensated diabetes mellitus, acute arterial hypertension, different kinds of coagulopathies and others. Ninety-six of the 102 patients required medical treatment according to general medical standards. Inhomogeneity of the underlying disease processes explains the ineffectiveness of different monotherapies in previous studies. Interdisciplinary search for the underlying causes allows causative treatment. ODSWVL and anterior ischemic optic neuropathy in particular seem to be a common final pathway of various pathogenetic mechanisms due to different etiologies rather than a disease entity by itself.

Adult↗
PubMed1996

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.

We describe a mutation in the FGFR2 gene in affected members of a large family with inherited autosomal dominant craniosynostosis. The mutation is a G1044A transition at codon 344 of exon B of the gene and results in abnormal splicing of the FGFR2 transcript. The phenotypic effect of the mutation varies greatly. It ranges from minor anomalies such as slight hypertelorism and maxillary hypoplasia to severe manifestations such as brachycephaly and dolichocephaly. The severe cases required surgery because of increased intracranial pressure. The patients cannot be assigned clinically to one of the known craniosynostotic syndromes with mutations in FGFR2, e.g., Crouzon, Pfeiffer, or Jackson-Weiss. This study demonstrates that FGFR2 mutations can result in a spectrum of craniofacial abnormalities even within one family. The known eponymic syndromes of Crouzon, Pfeiffer, or Jackson-Weiss only describe phenotypic extremes of this spectrum. Therefore, the clinical classification should be abandoned and replaced by a molecular one such as "FGFR-associated craniosynostosis syndromes."

Adolescent↗
PubMed1995

Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.

The merosin M-chain (or laminin-alpha 2) is one of three subunits of laminin-2 which is highly expressed in striated muscle and peripheral nerve. Complete lack of laminin-alpha 2 expression in skeletal muscle is the hallmark of one form of congenital muscular dystrophy which is characterized by dysmyelination of the central nervous system (CNS), links to chromosome 6q2 and is common among Caucasians. Laminin-alpha 2 expression was also found to be significantly reduced in Fukuyama congenital muscular dystrophy which links to chromosome 9q3. We report consistently preserved laminin-2 expression, including laminin-alpha 2, as detected by immunofluorescence in skeletal muscle from five patients with Walker-Warburg syndrome which is characterized by congenital muscular dystrophy and, in addition, type II lissencephaly or pachygyria, defective CNS myelination, and ocular dysgenesis. These findings show that in spite of partial phenotypic overlap between Fukuyama CMD and Walker-Warburg syndrome the two disorders are nosologically separate disease entities. They also exclude that Walker-Warburg syndrome is allelic to the common form of congenital muscular dystrophy with laminin-alpha 2 deficiency.

Antibodies↗
PubMed1994

Pterional approach to the contralateral orbit.

Of a total of 80 operated intraorbital lesions, 2 were located in the posterior intraconal space, medial and inferior to the optic nerve. Because they were unfavorably located for standard surgical approaches, we operated via a contralateral pterional transsphenoidal-transethmoidal route. This technique provided excellent exposure and results in these two cases of intraorbital cavernous malformations. A brief description of the approach is presented.

Adult↗
PubMed1994

[Neuropathies of the optic nerve in inflammatory systemic diseases and vasculitis. A frequently misdiagnosed early symptom].

Optic neuropathy, also described as "autoimmune optic neuropathy", cna be treated successfully. It can be isolated, an early sign of or associated with systemic inflammatory disease and vasculitis. Recognition of this entity appears important since the natural course of the disease tends to end up with severe visual loss and optic atrophy. Early systemic high-dose steroid treatment and immunosuppression usually restore and maintain visual function. The clinical spectrum of this disease entity is described on the basis of the literature and our own cases, some of which have been followed up for several years. The differential diagnostic and therapeutic aspects are discussed. Association of this ill-known optic neuropathy with various inflammatory diseases is described; a rich reference list indicates its existence.

Adult↗
PubMed1993

[Orbital decompression by pterional approach in dysthyroid orbitopathies].

The etiology of the endocrine orbitopathy is still unknown and thereby their treatment remains symptomatic. The surgical decompression is achieved in resecting lateral wall, roof and partly bottom of the orbit. We treated 23 eyes in 14 patients and in only one patient the decompression obtained with this method was insufficient. This patient underwent additionally transantral transethmoidal decompression. One patient had a complete loss of vision after surgery probably due to direct lesion of the optic nerve. The decompression of the orbit is indicated in fast progressive endocrine orbitopathies with impairment of the visual function.

Adult↗
PubMed1993

Cerebral complications in acute posterior multifocal placoid pigment epitheliopathy.

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a self-limited ocular disease with a favorable visual outcome. Regarding its pathogenesis, there is increasing evidence of a vascular disorder of the precapillary choroidal arterioles that causes ischemic edema of the overlying retinal pigment epithelium. Systemic and neurological abnormalities associated with APMPPE have been documented. The development of severe cerebral vasculitis simultaneously or after a period of months or even years has been described in only a few cases. We present two new well-documented cases that developed several months after manifestation of the characteristic findings of APMPPE. A thorough medical and neurological workup is recommended, as is careful information of the patients and their families about the signs and symptoms of potential associated cerebral complications so as to facilitate early and adequate treatment.

Acute Disease↗
PubMed1992

[Postmortem endoscopic diagnosis].

The use of endoscopical methods augments the macroscopical diagnosis in autopsies. Cavities and sinuses which are hardly accessible may be inspected and photographically documented as well without damage of the anatomical context. In terms of forensic autopsies the endoscopical technique is mostly recommended for the inspection of the fundus of the eye, the external auditory meatus up to the tympanic membrane, the naso- and laryngopharynx. Pathological and traumatical changes can be valued at once in situ. Forensic evidence of postmortal endoscopical findings is exemplified.

Adolescent↗
PubMed1989

[Initial manifestation of sarcoidosis as a palpebral and para-bulbar tumor].

Tumors of the lids, the lacrimal gland and the orbit can be early manifestations of sarcoidosis. A timely diagnosis based on biopsy of periocular tissues and cinico-radiographic evaluation at an early stage of the disease may prevent irreversible lesions of the parenchymatous organs. The clinical and histological signs in two patients, one with palpebral and one with parabulbar sarcoidosis, are described and the differential diagnosis and therapeutic aspects are discussed.

Aged↗
PubMed1988

Extended pterional decompression of the orbit: an alternative treatment in endocrine orbitopathy.

Extended pterional decompression was performed in seven orbits. The indication was optic neuropathy in six orbits and corneal ulceration in one. As compared to ethmoidectomy, advantages of the pterional approach seem to be the preservation of the motility of the eye and the lack of paranasal sinus complications. We consider the pterional approach to be appropriate for decompression of endocrine orbitopathies that do not respond to conservative measures.

Corneal Diseases↗
PubMed1982

Graves' ophthalmopathy evaluated by infrared eye-movement recordings.

Thirteen patients with varying degrees of Graves' ophthalmopathy were examined using high-resolution infrared oculography to determine peak velocities for horizontal eye movements between 3 degrees and 30 degrees. As severity of the orbital disease increased, peak velocities became substantially lower. Vertical-muscle surgery failed to have any effect on peak velocity of horizontal eye movements. In contrast, orbital decompression caused notable improvement in peak velocity of eye movements. Eye-movement recordings, which provide a measure of extraocular muscle function rather than structure, may provide a safe, sensitive, and accurate method for classifying and following up patients with Graves' ophthalmopathy.

Adult↗
PubMed1982

[On the CT-diagnosis of optic nerve lesions. Differential diagnostic criteria (author's transl)].

Computed tomograms of 166 optic nerve lesions were analyzed: 97 were mainly orbital and 69 mainly intracranial. The criteria were clinical course, size, density and delineation of the optic nerve shadow, orbital and cerebral soft tissue abnormalities, and bony changes in the optic canal. Characteristic CT features are described of individual disease entities such as optic gliomas, optic nerve sheath meningiomas, neoplastic and inflammatory infiltrations. The differential diagnostic importance of individual CT criteria is evaluated and discussed. Simultaneous visualization of orbital and intracranial soft tissue changes as well as bony changes in the optic canal allow the location and identification of the majority of optic nerve lesions based on the criteria mentioned above, and optic nerve tumors can be differentiated. In 9 patients with optic neuritis due to clinically proven encephalitis and in 17 patients with total optic atrophy, no changes in the size of the optic nerve could be found. CT evaluation of the intraorbital portion of the optic nerve requires special examination techniques. Oblique computer reformations through the optic canal provide excellent visualization of bony changes in the optic canal. The exclusion of intracranial causes of optic nerve lesions requires intravenous injection of contrast material.

Diagnosis, Differential↗
PubMed1981

[Correlation of infarctions of the visual cortex with homonymous visual field defects. A computer tomographic study (author's transl)].

Computed tomography (CT) is a simple and non-invasive method of demonstrating infarctions of the visual cortex. Seventy-eight CT-proven infarctions were correlated with the visual field defects. This correlation between cortical infarctions and visual field defects is difficult to achieve by angiography because of the variations in the vascular supply. CT, on the other hand, provides a far better correlation, showing the functional-anatomical structure of the visual cortex by projection in three planes (transverse, sagittal, coronar). CT, however, can not replace angiography in cases where arteriovenous malformations are suspected.

Acute Disease↗