Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2 1/2 years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T2-weighted sequences suggestive of Leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced.
 ...
PMID:Cytochrome c oxidase partial deficiency-associated Leigh disease presenting as an extrapyramidal syndrome. 1151 Sep 39

A complex method for examining the function of the upper eyelid and oculomotor system in patients with strabismus concomitant with ptosis is described. Use of this method in 62 patients helped distinguish three clinical forms of this abnormality. It allows detecting important diagnostic criteria and determine the treatment strategy for this patient population.
 ...
PMID:[Diagnostic criteria in associated strabismus and blepharoptosis]. 1156 82

The Dubowitz syndrome is a rare, autosomal recessive disorder including intrauterine growth retardation, craniofacial abnormalities, mental retardation and eczematous skin eruption. Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones. We present a three years old girl, diagnosed with Dubowitz syndrome, with sudden visual loss due to bilateral cataract.
 ...
PMID:Sudden development of bilateral cataract in a child with Dubowitz syndrome: a case report. 1176 56

The congenital fibrosis syndromes (CFS), including congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DS), are rare congenital strabismus syndromes that present with nonprogressive restrictive ophthalmoplegia with or without ptosis. Although historically believed to result from primary extraocular muscle (EOM) fibrosis, our laboratory's work is based on the hypothesis that these disorders result from distinct, but analogous, developmental defects of the oculomotor (nIII), trochlear (nIV), and abducens (nVI) nuclei. We have defined three inherited CFEOM phenotypes (CFEOM1-3) and have mapped each phenotype to a distinct genetic locus (FEOM1-3). Individuals with CFEOM1 are born with bilateral ptosis and both eyes fixed in a downward position with absent upgaze and aberrant horizontal gaze. This disorder maps to the FEOM1 locus on chromosome 12cen.(1,2) Neuropathology studies of CFEOM1 reveal the absence of the superior division of oculomotor nerve and its corresponding alpha motor neurons in the midbrain, with abnormalities of target EOMs.(3) These neuropathology findings parallel those previously identified in Duane syndrome, in which there is an absence of nVI and the abducens nerve.(4,5) Individuals with CFEOM2 are born with bilateral ptosis and exotropia. This atypical form of CFEOM maps to the FEOM2 locus on chromosome 11q13 and results from mutations in ARIX (PHOX2A).(6,7) ARIX encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish.(8,9) Together, these findings support the hypothesis that the congenital fibrosis syndromes result from parallel defects in nIII, nIV, and nVI nuclear development. Functional studies of the CFEOM genes should provide additional insight into the unique features of the extraocular lower motor neuron axis in health and disease. (For full (refs. 1-9), see reference list of the main paper.)
 ...
PMID:Applications of molecular genetics to the understanding of congenital ocular motility disorders. 1196 Jul 93

A total of 152 patients aged 4-14 years at risk of ASA I or II were examined. Planned operations were carried out: correction of myopia, strabismus, and eyelid ptosis. The patients were divided into 4 groups: 1) 54 patients operated on under combined anesthesia (propofol infusion and ketamine bolus), 2) 60 children operated on under combined anesthesia by ketamine and propofol infusions, 3) 24 patients operated on under ketamine + seduxene infusion narcosis, and 4) 34 children in whom ketamine and seduxen were injected in boluses. All operations were carried out under conditions of spontaneous respiration. Central hemodynamic parameters were studied by tetrapolar chest rheography with NCCOM3-R7 device (BIOMED). Methods of combined anesthesia with diprivan (propofol) are indicated for children subjected to ophthalmological surgery as methods with the minimum effects on the hemodynamics and ensuring adequate anesthesiological protection as regards the clinical and hemodynamic status.
 ...
PMID:[Central hemodynamics in conditions of combined intravenous anesthesia using propofol and ketamine in pediatric ophthalmology]. 1199 79

The authors report a case of de novo duplication 1q32-qter present in a patient with dysmorphic syndrome and developmental delay. This article describes the eighth case of partial trisomy 1q32-qter "pure", without chromosomal abnormalities. In the literature, a dysmorphic "syndrome" is described for trisomy 1q32-qter: hypertelorism, low set and malformed ears, prominent forehead, long philtrum, antimongoloid slanting, foot and digital malformations, cardiovascular abnormalities, urogenital abnormalities, and mental retardation. The ocular defects described in previously reported cases include: cataract, strabismus, hypoplasia of the optic disk, microphthalmia, epicanthal folds, ptosis, persistent tunica vasculosa lentis, and hyaloid vessels, but this seems to be nonspecific of this chromosomal abnormality.
 ...
PMID:[Ocular defects associated with a duplication of the distal part of the long arm of chromosome 1: a case report]. 1201 43

Phacomatosis pigmentokeratotica is a rare but highly characteristic disease defined by the occurrence of an organoid naevus with sebaceous differentiation, a speckled-lentiginous naevus and other associated anomalies. It is probably caused by the twin-spot phenomenon. We report on a 23-year-old male electrician with 10 irregularly shaped, sharply demarcated, brownish-yellow papillomatous plaques following Blaschko's lines, as well as 6 large, sharply demarcated, round to oval, slightly greyish macules with pewit-egg-like dots, involving both buttocks, the right thigh, the right knee, the right pectoral region and the upper back. A moderate hyperhidrosis of the palms, soles and axillae was noted. All routine blood tests and laboratory findings, including chest X-ray, ECG, abdominal ultrasound, ocular and neural examination were unrevealing. Phacomatosis pigmentokeratotica may be associated with dysaesthesia, segmental hyperhidrosis, mild mental retardation, epileptic seizures, deafness, ptosis, strabismus or muscular weakness. In our patient, only slight hyperhidrosis was present, whereas all other associated anomalies could be excluded.
 ...
PMID:Phacomatosis pigmentokeratotica (Happle) in a 23-year-old man. 1201 1

Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short left palpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism.
 ...
PMID:Prenatally detected trisomy 7 mosaicism in a dysmorphic child. 1247 42

A unique case of alternating, poorly controlled, intermittent strabismus that improved after repair of bilateral, alternating congenital ptosis is described. A 7-year-old boy with bilateral, alternating congenital ptosis and poorly controlled, intermittent exotropia underwent bilateral frontalis suspensions. After surgery, the patient demonstrated improved control of his exotropia. We conclude that an alternating ptosis may lead to sensory deprivation of the occluded eye and decreased fusion, causing an intermittent strabismus to be poorly controlled. Repair of the ptosis to a sufficient eyelid height bilaterally may improve control of the strabismus, obviating strabismus surgery.
 ...
PMID:Alternating ptosis associated with intermittent exotropia. 1243 64

Strabismus fixus is a rare condition and usually is of convergent type in which one or both eyes are anchored in a position of extreme adduction. Convergent type strabismus fixus is considered to be a congenital disorder and a part of congenital extraocular muscle fibrosis syndrome. Villasecca and Martinez described an acquired type of strabismus fixus. Hayashi et al reported that progressive esotropia could develop into the acquired type of convergent strabismus fixus. There are very few reports of divergent strabismus fixus in the literature. It may or may not be accompanied by ptosis or generalized extraocular muscle fibrosis. In our report, a case of divergent type strabismus fixus is described and discussed.
 ...
PMID:Divergent strabismus fixus--a case report. 1270 80


<< Previous 1 2 3 4 5 6 7 8 9 10