Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Detailed morphological analyses, including retinal layer thickness studies, were performed on heterozygous affected cats with autosomal dominant rod-cone dysplasia (gene symbol Rdy). Abnormalities were evident in retinas from the earliest age examined (2 weeks). Both rod and cone photoreceptors were affected equally by the dystrophy which was characterized by retarded and abnormal development of the visual cells. Photoreceptor inner segments remained rudimentary and outer segments did not elongate normally. Outer segment material was sparse and consisted mostly of whorls of disorganized and disoriented disc lamellae. Photoreceptor cell synaptic terminals showed delayed and incomplete synaptogenesis. Degenerative changes were first observed at 4.5 weeks of age and were characterized by the appearance of pyknotic nuclei in the outer nuclear layer and displacement of photoreceptor cells into the subretinal space. Degeneration began in central retinal regions and proceeded towards the periphery, resulting in progressive loss of the photoreceptor cell layers. By 30 weeks of age only two to five rows of nuclei remained in the outer nuclear layer. Area centralis degenerative lesions in advanced affected eyes were characterized by focal absence of the retinal pigment epithelium and choriocapillaris and thinning of the underlying tapetum. Retinal autoradiography showed that in normal kittens aged between 4.5 and 11 weeks of age rod outer segment renewal rates varied between 2.49 and 2.79 microns per 24 hr. The failure to form a labelled band in retinal autoradiograms from Rdy-affected kittens most probably indicates defective rod disc morphogenesis. It appears that the genetic defect in Rdy cats permits retarded development of the photoreceptor cells, but becomes lethal when these cells begin functional differentiation.
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PMID:Autosomal dominant rod-cone dysplasia in the Rdy cat. 1. Light and electron microscopic findings. 220 49

A case of monostotic, mandibular fibrous dysplasia has been described in a 22-year-old Amerasian male, who had facial asymmetry of approximately 5 years' duration. Foci of ill-defined sclerotic, pagetoid calcifications were seen on routine film. The CT scans demonstrated bone facial and slight lingual expansion of bone with thinning of the cortex. A three-dimensional, enhanced CT film showed that this lesion was greater than 4 cm. The clinical, radiologic, and microscopic features of fibrous dysplasia have been described.
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PMID:Facial asymmetry. 235 89

Hereditary and congenital nephropathies constitute a substantial proportion among diseases of the urinary system. Renal biopsies from 3 patients showing clinical symptoms of chronic glomerulonephritis were examined. Morphological studies were made of semithin and serial ultrathin sections of the biopsy specimens. This revealed the racemosely arranged glomeruli with single capillary loops, abundant rounded cells freely lying in the cavity of a capsule; single mesangial cells; irregular enlargement, loosening, and thinning of the basement membrane. The analysis of the findings makes it possible to consider them to be a manifestation of hypoplastic dysplasia, to differentiate nephropathy developing at this background from other renal diseases and to use a more efficient and sparing therapy.
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PMID:[Hypoplastic dysplasia as one of the forms of nephropathy]. 261 Jun 7

Right ventricular arrhythmogenic dysplasia is a rare cardiomyopathy which involves the right ventricle either totally or partially. Up to now diagnoses have been based on Ecg, hemodynamics, angiography and echocardiography. This paper deals with the first 7 patients examined also by means of Computed Tomography. The CT picture is well defined and rather accurate. The most important elements are: total (6/7) or partial (1/7) enlargement of the right ventricle; thinning of right ventricular myocardium (6/7); marked increase in subepicardial fat limited to the right ventricular wall (7/7); right ventricle hypokinesia (7/7). A good correlation exists between CT, echographic and traditional methodologies findings. Because of its densitometric evaluation, CT is much more precise in the demonstration of fatty degeneration. Moreover, it can be very useful in differentiating intracardiac thrombi from hypertrophic papillary muscles and trabeculae.
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PMID:[Arrhythmogenic dysplasia of the right ventricle. Evaluation of 7 cases using computerized tomography]. 296 79

Transplacental exposure to the DNA alkylating agent N-methyl-N-nitrosourea on day 16 of gestation in CD-1 albino mice induces a degeneration of the retina, the severity of which depends upon the dosage level of the drug. A 1 mg kg-1 dose provokes a progressive retinal degeneration in the offspring which begins at about 4-6 weeks of age and is characterized by gradual thinning of the retinal layers. A 15 mg kg-1 dosage of MNU provokes severe retinal dysplasia characterized morphologically by rosettes in the outer nuclear layer and loss of rod outer segments (ROS). In the present biochemical experiments, retinal protein synthesis was examined in mice 2-, 4-, and 6 weeks of age exposed to 1 mg kg-1 MNU and 2- and 5 weeks of age exposed to 15 mg kg-1 MNU. Phospholipid synthesis was examined in mice 2-, 4-, 6- and 12 weeks of age exposed to 1 mg kg-1 MNU and at 2 weeks in mice exposed to 15 mg kg-1 MNU. Retinas were incubated for 2 hr at 37 degrees C in media supplemented with either [3H]leucine for protein synthesis studies or [3H]glycerol for phospholipid synthesis experiments. Aliquots of crude ROS and the retinal debris were taken for protein determination, scintillation counting, SDS-PAGE separation of labeled opsin, phosphorus determination and TLC separation of phospholipids. Results indicated that mice exposed to 1 mg kg-1 MNU did not differ significantly from age-matched controls in these measurements, whereas mice exposed to 15 mg kg-1 MNU were significantly different from controls. These results suggest that even as early as 2 weeks of age protein and lipid metabolism are adversely affected in mice exposed to the higher dose of the alkylating agent at a critical time in retinal development, but general protein and lipid synthesis is not affected in animals exposed to 1 mg kg-1 MNU at least up to 12 weeks of age. These studies suggest further investigation of more subtle derangement in the retinal function in animals exposed to low levels of MNU.
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PMID:Biochemical characterization of retinal protein and phospholipid synthesis in mice exposed transplacentally to N-methyl-N-nitrosourea. 319 72

Cleidocranial dysostosis (CCD) is a rare congenital disorder characterized by the heredity, the disturbance of the ossification of the skull and clavicles, and dental anomaly. The entity of CCD was established by Marie and Sainton in 1898. In Japan about 150 cases have been reported since Haneda's first report in 1933. Recently we experienced a rare case of CCD associated with the temporal arachnoid cyst. The patient was a 61-year-old male who had suffered from mild spastic paresis of the left upper extremity since his childhood. One morning he suddenly noticed motor weakness of the left upper and lower extremities and was transferred to our hospital. On admission we observed the left hemiparesis (MMT 3/5), the left central type facial palsy, and the left long tract signs. Physical examination disclosed frontal bossing, depression of the forehead, sloped shoulders, cone-shaped thorax, and thoracic scoliosis. Plain skull radiograph showed persistent metopic suture and frontal fontanelle, many wormian bones around coronal and lambdoid sutures. Plain radiographs of the systemic bones also showed typical features of CCD such as dysplasia of the lateral third of the bilateral clavicles, deformities of the cervical vertebral bodies, thoracic scoliosis, and wide symphysis. CT scan disclosed the right putaminal hemorrhage, the right temporal arachnoid cyst, enlargement of the right middle fossa, thinning of the temporal bone adjacent to the arachnoid cyst. It also showed the atrophy of the right cerebral peduncle and midbrain. Surgical treatment was performed to remove the hematoma and release the cyst. Several neurological disorders associated with CCD have been reported such as epilepsy, mental retardation, spastic paresis etc.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of cleidocranial dysostosis associated with arachnoid cyst]. 343 33

A 3-year-old horse presented with intermittent generalized seizures of 2-month duration. During interictal periods, the horse appeared normal and a cause for the seizures could not be identified. Necropsy revealed opacity of the leptomeninges, covering most of one cerebral hemisphere along with thinning and collapse of the cortex in the ipsilateral pyriform lobe. Histopathology demonstrated leptomeningeal vascular proliferation and meningothelial hyperplasia. Prominent tortuous vessels of the gyri and sulci extended into some regions of the subjacent cortex, where there was neuronal loss, ectopia, and disorganization. Clusters of prominent arterioles were found in the sclerotic choroid plexus of the lateral and fourth ventricles. Milder vascular lesions were present in the leptomeninges of the ventral brain stem, right cerebrum, spinal cord, and in the eye. The left trigeminal nerve was distorted by swollen fasicles containing onion bulb-like structures. Most bulbs contained central axons surrounded by myelin sheaths of variable thickness. Electron microscopy demonstrated concentrically arranged cells with continuous basal laminae and rare pinocytotic vesicles. S-100 immunohistochemistry showed strong positive staining in these cells. This is an unusual combination of lesions to which analogies can be drawn with the human neuroectodermal dysplasias, specifically Sturge-Weber disease. The relationship of the neuropathy to the leptomeningeal hemangiomatosis is unclear, but a compound anomaly in embryological development resulting in dysplasia and neoplasia may be involved.
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PMID:Meningocerebral hemangiomatosis resembling Sturge-Weber disease in a horse. 368 94

Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is a syndrome characterized by the presence of mucocutaneous telangiectasia, recurrent hemorrhage (epistaxis from nasal telangiectasia is by far the most common form), and hereditary occurrence. Hereditary hemorrhagic telangiectasia is thought not to be a simple mucocutaneous disease but a generalized vascular dysplasia, because multiple visceral organs and systems, including central nervous system, are involved. But, an involvement of the central nervous system in this disease is rare. We experienced a case with cerebral arteriovenous fistula that was also diagnosed as possible hereditary hemorrhagic telangiectasia. In this communication this case is reported and the relevant literature is reviewed. A 30-year-old male, who was diagnosed as having possible hereditary hemorrhagic telangiectasia, was found to have abnormal findings on head CT scan during the evaluation of his disease. So he was admitted to the neurosurgical department for further examination. He was also known to have pulmonary arteriovenous fistula (11.5% arteriovenous shunt) and secondary polycythemia (RBC 533 X 10(4)/mm3, Hb 17.6 g/dl, Ht 51%). His past medical history was noteworthy for several episodes of epistaxis since childhood. His uncle had also pulmonary arteriovenous fistula and was operated on at another hospital. On admission, he was alert and showed normal neurological findings. Routine x-ray of the skull showed abnormal thinning of the skull in the right parietal region. Computed tomograms showed a lobulated high-density mass in the right parietal lobe which was homogeneously enhanced after bolus injection of contrast material. Right carotid angiograms disclosed a dilated aneurysmal vein in the parietal lobe.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Cerebral and pulmonary arteriovenous fistula with possible hereditary hemorrhagic telangiectasia: case report]. 376 59

A female infant with brain and muscle abnormalities characteristic of Warburg syndrome had an atypical retinal dysplasia which appeared clinically as a 'leopard spot' retinopathy. The retinal histology is described in detail and is remarkable for periodic thinning of the inner nuclear layers and for isolated rosettes in the periphery. We believe 'leopard spot' retinopathy is yet another ocular manifestation of the Warburg syndrome.
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PMID:'Leopard spot' retinopathy in Warburg syndrome. 378 83

A model of retinal degeneration has been developed in mice which is induced by the DNA alkylating agent methylnitrosourea. Pregnant mice were injected with various doses of this potent teratogen on day 16 of gestation, a time of differentiation of numerous cell types of the mouse retina. Histological examination of retinas from offspring exposed to 20-, 10- and 5 mg kg-1 doses demonstrated retinal rosettes, a pathology similar to retinal dysplasia. The 1 mg kg-1 dosage did not produce rosettes; in fact, retinas appeared morphologically normal early in life. Control and treated animals were studied at specific age intervals: 2-, 4-, 6-, 8-, 12-, 16-, 20-, 36-, 52 weeks. Measurements of the overall retinal width and five retinal layers were made to quantify the degeneration. Results indicate a thinning of the retina begins at 4 weeks and worsens with age. These results are discussed with respect to the potential of low-level exposure to environmental toxins as a possible cause of retinal degeneration.
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PMID:Retinal degeneration in the mouse. A model induced transplacentally by methylnitrosourea. 380 63


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