Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a family of 8 subjects in which 6 members demonstrate significant abnormalities in the development of the facial skeleton and the skull in the form of craniofacial dysostosis (Crouzon's disease) with complications including optic nerve atrophy, divergent squint in 4 children and borderline mental retardation in 3 of these children.
Neurol Neurochir Pol
PMID:[Familial occurrence of Crouzon's disease]. 120 99

The aim of this work was to characterise the eye muscle antigens reacting with autoantibodies from Graves ophthalmopathy patients to elucidate the function of these antibodies. As estimated by ELISA test antibodies of IgG class reacting with porcine microsomal membranes are present in about 25% of patients while of IgM class in about 15% of patients with Graves ophthalmopathy. Their presence do not correlate with ophthalmopathy index, neither they have relation to treatment. Anti eye muscle antibodies were present at some stages of the disease in three patients who develop ophthalmopathy, from the group of 26 patients treated during one year for hyperthyroidism. However, sporadically these antibodies were found also in about 20% of patients with Hashimoto disease, Lupus erythematosus or Scleroderma. Some of them cross react with antigens of skeletal muscle and liver. Eye muscle antigens reacting with patients antibodies are localised in plasma membranes and in membranes of smooth reticulum. Affinity purification of solubilised porcine eye muscle membrane proteins on a column with immunoglobulins from pooled serum of patients resulted in 23 fold purification of the antigen. The sensitivity of ELISA was not significantly increased by the use of affinity purified antigen, however some of previously negative ophthalmopathy sera gave positive reaction. Porcine eye muscle membrane proteins were separated by SDS PAGE and transferred to nitrocellulose. The reactions of electroblotted proteins with sera from patients with Graves ophthalmopathy and also sera from healthy controls shown very complex pattern. There was not a single antigen or antigens reacting only with antibodies present in sera of ophthalmopathy patients and not in controls. Patients sera reacted more often than control sera with an antigen of about 40 kDa. The reaction of sera from some patients with proteins about 100, 70 and 65 kDa were stronger than between these proteins and control sera. No changes in the pattern of reaction between antibodies and eye muscle antigens were noticed in serum of the same Graves' patient with or without ophthalmopathy during one year follow up and treatment, regardless of clinical course of the disease. When human eye muscle membrane fractions from tissue obtained during strabismus repair or at autopsy was used for immunoblotting, smaller number of proteins reacted with autoantibodies. Again there was no single antigen or antigens reacting with antibodies from sera of all Graves ophthalmopathy patients. Sera of some patients reacted with antigens about 50 kDa, not recognized by controls. The results of present study show, that the anti eye muscle antibodies are present in some of Graves ophthalmopathy patients.(ABSTRACT TRUNCATED AT 400 WORDS)
Endokrynol Pol 1992
PMID:[Muscle antigens recognized with autoantibodies in patients with Graves' ophthalmopathy]. 134 58

On the basis of clinical analysis and pathological findings in 25 patients dying after occlusion of the basilar artery the authors describe the main signs and course of the disease. Their observations made possible isolation of two types of the disease: 1) acute, with sudden consciousness disturbances leading to gradually increasing coma with flaccid extremities or decerebrate rigidity, stiff pupils not reacting to light and, frequently, with divergent squint, 2) subacute--with headache and hemiparaesthesiae and later quadriparesis and paresis of cranial nerves III to VII or IX, X, XII. A characteristic clinical feature is variability of neurological signs in the disease. The most frequent cause of basilar artery occlusion were atherosclerotic changes.
Neurol Neurochir Pol 1982
PMID:[Basilar artery thrombosis. Clinical and morphological aspects]. 715 85

In this work we presented our own experience with recognized and treated toxoplasmosis among children. Treated cases were observed over several years afterwards. We analyzed the frequency and character of clinical changes, evaluated the validity of serological screening and the effectiveness of treatment. The largest age group treated were children 13 months to 5 years old. 13 children had the congenital and 12 the acquired form. The most cases occurred in the nodal, ocular and ocular-cranial forms. Thus, the most common symptoms were enlarged lymphatic nodes, strabismus, febrile seizures, intracranial calcifications. In the acquired forms of the illness a distinct correlation between treatment and the decrease antibody levels, the clinical pictures showed stagnation. The fall in antibody levels occurred earlier with intermediate immunofluorescence than with ELISA method. Among 20 children associated 30-day treatment was implemented (Daraprim, Rovamycine, Biseptol), among 4 with Fansidar and Rovamycine for 2-3 weeks. Few complications occurred at the end of or after treatment and did not require treatment/intervention. Usually it was leukopenia and thrombocytopenia. Long time observation allows to state that both therapeutic models prevent renewal of illness and can be recommended for further use.
Pol Merkur Lekarski 1997 May
PMID:[Clinical view of toxoplasmosis in children--personal observations]. 937 83

We report an 8-year-old proband with severe motor and intellectual disability presenting a variety of dysmorphic features such as microcephaly, prominent glabella (ridged metopic suture) and congenital distal limb contractures. As well as panhypopituitary insufficiency, brain defects, e.g. agenesis of corpus callosum, colpocephaly, and pachygyria as well as strabismus and tracheo-laryngeal hypoplasia, were diagnosed. Genetic examination revealed a normal karyotype and excluded Wolf-Hirschhorn syndrome and subtelomeric deletions. Chitayat-Hall syndrome was diagnosed based on clinical traits.
Endokrynol Pol
PMID:Panhypopituitary insufficiency in a patient with clinical diagnosis of Chitayat-Hall syndrome. 2060 8

Long non-coding RNAs are 200 nucleotide long RNA molecules which lack or have limited protein-coding potential. They can regulate protein formation through several different mechanisms. Similarly, circular RNAs are reported to play a critical role in post-transcriptional gene regulation. Changes in the expression pattern of these molecules are established to underline various diseases, including cancer, cardiovascular, neurological and immunological disorders. Recent studies suggest that they are differentially expressed both in healthy ocular tissues as well as in eye pathologies, such as neovascularization, proliferative vitreoretinopathy, glaucoma, cataract, ocular malignancy or even strabismus. Aetiology of ocular diseases is multifactorial and combines genetic and environmental factors, including epigenetic and non-coding RNAs. In addition, disorders like diabetic retinopathy or age-related macular degeneration lack biomarkers for early detection as well as effective treatment methods that will allow controlling the disease progression at its early stages. The newly discovered non-coding RNAs seem to be the ideal candidate for novel molecular markers and therapeutic strategies. In this review, we summarize current knowledge about gene expression regulators - long non-coding and circular RNA molecules in eye diseases.
Acta Biochim Pol 2018 Nov 14
PMID:Circular and long non-coding RNAs and their role in ophthalmologic diseases. 3042 83