Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of Steinert's disease in a woman and discuss the endocrine profile of this disease after giving an account of the criteria of diagnosis. Disorders of gonad function are mild in women, primary testicular atrophy is very frequent in man with reduction in 17-ketosteroids and testosterone. Thyroid function was normal but, in a few cases, a low fixation curve was found (our case) corrected by TSH stimulation. The frequency of cataract emphasizes the interest of this sign for detection. Diabetes, associated with hyperinsulinism, seemed more frequent than in a population without Steinert's disease. The pathogenesis of these endocrine disorders appears secondary and is ill explained if one considers it as a single disease. Better knowledge, no doubt linked to progress in biochemistry of normal and myopathic muscle, will help to explain the pathogenesis.
 ...
PMID:[Endocrine aspects of Steinert's disease]. 18 36

A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental retardation, aminoaciduria, proteinuria, rickets, areflexia, genu valgum, piercing cry and head-banging being among the presenting features. The rickety changes improved over a period of years with the administration of vitamin D2. Pathological changes include: (1) tubular damage in the kidneys and hypertrophies of Bowman's capsules; (2) small brain with ventricular dilatation with thickened meninges, small corpus callosum, small size of pyramidal tracts and medial leminisci, neurofibrillary tangles in the pyramidal cells of the Ammon's horn and frontal lobe; (3) eye changes of buphthalmos, congenital cataracts and thickening of Descemet's membrane; (4) testicular atrophy--both testes showing peritubular fibrosis with an increase of fibrous tissue in the interstitial tissue. Azoospermia was present linked with poor development of spermatogonia and spermatocytes. The lumina of the seminiferous tubules were filled with foamy exudate.
 ...
PMID:Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan. 738 30

A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.
 ...
PMID:Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. 894 Dec 70

In order to investigate the toxicity of oxidosqualene cyclase (OSC) inhibitors, hamsters and dogs were treated up to 13 weeks with three different agents of this compound class. Subacute treatment (< or = 4 weeks) of hamsters and dogs with OSC inhibitors produced a similar spectrum of histopathologic lesions, which have previously been described for compounds of this pharmacological class. In the hamster, other lesions were produced only after subchronic treatment (13 weeks). After subacute treatment, histopathologic findings were observed in the eye, skin and forestomach. Lesions in the eye were characterized as proliferation, swelling and degeneration of lens fiber cells. This finding was considered to be an early stage in cataract development. In the skin and forestomach, squamous cell hyperplasia and hyperkeratosis accompanied by a mixed inflammation was observed. After subchronic treatment of hamsters, histopathologic findings were observed in the eye, skin, forestomach, testes, epididymides, prostate gland, seminal vesicles and long bones. Lesions in the eye were characterized as cataracts. Squamous cell hyperplasia accompanied by a diffuse hyperkeratosis and a mixed inflammation was seen in the skin and forestomach epithelium. In addition, testes lesions were characterized as testicular atrophy, generalized germ cell depletion, germ cell degeneration and tubular collapse. Atrophy, oligospermia and lumenal germ cells/cell debris were found in the epididymides. The prostate gland and seminal vesicles were decreased in size (atrophy). The bone lesions were characterized as a failure of enchondral ossification causing variable widening of the growth plate and a failure to form primary bone trabecula (lesions resemble those found in rickets). To our knowledge, this is the first study describing the toxicity of OSC inhibitors after subchronic treatment in hamsters and dogs. As all adverse effects described in this report are considered to be due to an exaggeration of the desired biochemical mechanism of action at high dose levels, a decrease of the systemic exposure by the use of more hepatoselective OSC inhibitors is expected to reduce the probability of these adverse effects in humans.
 ...
PMID:Histopathologic findings after treatment with different oxidosqualene cyclase (OSC) inhibitors in hamsters and dogs. 1608 17

The adult form of myotonic dystrophy type 1 is a neuromuscular disorder with multisystem involvement, including the central nervous system (CNS). The presenting clinical features of this condition include distal muscle weakness, myotonia, intellectual decline, cataract, frontal baldness and testicular atrophy. Magnetic resonance (MR) imaging shows characteristic white matter changes in the CNS. The clinical presentation, characteristic white matter changes in the brain on MR imaging and electromyographic findings aid in the diagnosis of this disorder.
 ...
PMID:Magnetic resonance imaging findings in adult-form myotonic dystrophy type 1. 2281 33