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)

The clinical and pathological features of an early-onset autosomal dominant photoreceptor degeneration in the Abyssinian cat are described. Ophthalmoscopic evidence of retinal disease at 8-12 weeks of age was always preceded by marked dilatation of the pupils, impairment of the pupillary light reflex, and nystagmus. The electroretinogram was unrecordable in all but one of the affected individuals examined. Abnormal photoreceptor development was observed by both light and electron microscopy in retinas of a 22-day-old kitten; in this individual, no outer segment material was detected, and inner segments showed impaired development which was more severe towards the posterior pole. In a 40-day-old kitten, the inner segments were relatively well-formed, whereas the outer segments, though present, showed marked disorganization and degenerative change. The retinas of older individuals showed more advanced photoreceptor degeneration, with thinning of the neural retina. This early-onset retinopathy, which may be classified as a rod-cone dysplasia, is distinct from the hereditary retinal dystrophy (progressive retinal atrophy) previously described in this breed. The gene symbol Rdy has been adopted.
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PMID:An early-onset retinal dystrophy with dominant inheritance in the Abyssinian cat. Clinical and pathological findings. 380 43

Flattening of the epiphysis of the long bones is seen in several bone dysplasias. It is the hallmark of multiple epiphyseal dysplasia and is an important sign in the diagnosis of spondyloepiphyseal dysplasias, diastrophic dysplasia, and pseudoachondroplastic dysplasia. The goal of this study was to determine norms for the height of the distal femoral epiphysis and to apply these standards to patients with bone dysplasias. Ratios of the distal femoral epiphysis height to both the distal femoral metaphysis width and the distal femoral epiphysis width were obtained from 640 radiographs of healthy children of different ages. Application of these standards to 41 patients with the bone dysplasias mentioned above proved useful in ascertaining decreased height of the distal femoral epiphysis. These standards are of particular value in subtle or early cases in which the thinning of the epiphysis may not be apparent upon simple observation. Obtaining three simple measurements from the anteroposterior knee radiographs allows determination of the presence or absence of flattening of the epiphysis.
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PMID:Distal femoral epiphysis: normal standards for thickness and application to bone dysplasias. 396 Nov 86

Five patients with right ventricular dysplasia (RVD) and 28 patients with predominantly left sided dilated cardiomyopathy (DCM) were studied. RVD was characterised by syncope, recurrent sustained ventricular tachycardia, which typically had a left bundle branch block pattern on the surface electrocardiogram, right heart failure, and faint or absence of the right ventricular free wall on the myocardial scintigraphy. Two-dimensional echocardiographic, radionuclide angiographic, and contrast ventriculographic studies were typical of the right ventricular abnormalities in both Uhl's anomaly and arrhythmogenic right ventricular dysplasia. Two of them were died suddenly. Pathologic examinations showed "parchment-like" thinning of portions of the right ventricular free wall and its replacement by adipose tissue, although such degenerations were not found in the septum and the left ventricle. By contrast, DCM was characterised by exertional dyspnea and short run ventricular tachycardia, most of which had a right bundle branch block pattern. Ten of them had left ventricular myocardial defects on the scintigraphy, of whom five died suddenly. Hemodynamic data showed that left ventricular dysfunction was predominant more than right ventricle. Thus we postulate that these two syndromes are manifestations of a congenital, pathophysiologic process - the "involved right or left ventricle" syndrome.
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PMID:[Right ventricular dysplasia: clinical features compared with dilated cardiomyopathy]. 401 15

A 52 year old patient with no previous medical history had an attack of ventricular tachycardia, the configuration of which showed left sided delay. Electrical reduction was followed by multiple recurrences. There were ST-T wave changes over the right precordium on the basal ECG. The hydro-electrolytic equilibrium was normal. Coronary angiography and selective left ventricular cineangiography were also normal. Right angiocardiography showed an aneurysmal deformation of the pulmonary infundibulum. The recurrence of attacks over a two year period led to several hospital admissions, demonstrating the failure of antiarrhytmic therapy. The attacks became so frequent in the last three months that surgery was undertaken. Epicardial mapping showed delayed potentials over the pulmonary infundibulum and surgery consisted in resection of the abnormal infundibular zone. The macro- and microscopic pathological findings were of wall thinning and muscular degeneration with fibrosis and fatty infiltration. The authors discuss the relationship between right ventricular dysplasia and a localised form of Uhl's anomaly. Six years after surgery the patient has had no recurrence of the arrhythmia or shown signs of cardiac failure in the absence of any drug therapy.
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PMID:[Resistant ventricular tachycardia caused by right ventricular dysplasia. A case of surgical recovery reported 6 years after intervention]. 641 56

A clinicopathological study has been performed on a series of 42 well-documented examples of aneurysmal bone cyst of the jaws recorded in the literature, and 4 additional personally observed cases. Most occurred in the first three decades (93%), 2/3 of patients being younger than 20 years. There was a preponderance of females (62%). Both mandible and maxilla were involved, particularly the molar regions. A number of mandibular cases extended to the angle and ascending ramus. Swelling was usually present and there was frequently a history of rapid growth. Radiologically, they often appeared as multilocular radiolucencies with expansion and thinning of the cortical plates. Histologically, the lesions consisted of multiple cystic spaces of varying size, usually filled with blood. The intervening solid tissue frequently showed features of other pathological lesions, particularly the central giant cell granuloma, but occasionally as fibrous dysplasia, ossifying fibroma and cementifying fibroma. Recurrences have been common probably because of technical difficulties in entirely removing very large lesions. Thorough curettage, if necessary by an extraoral approach, is the most favoured method of treatment.
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PMID:Aneurysmal bone cyst of the jaws. (I). Clinicopathological features. 643 Aug 21

Three patients who had a diagnosis of congenitally absent lumbar pedicle underwent CT examination. Findings showed that each patient had an aberrant hypoplastic pedicle plus a retroisthmic defect in the ipsilateral lamina rather than an absent pedicle. Axial CT was the diagnostic modality of choice; reformated images were of little value. The nature of the anomaly explains the difficulty in diagnosis by plain film radiography or tomographic study. The differential diagnosis to be considered from findings of plain film radiography includes pediculate thinning, neoplastic disease, neurofibroma, mesodermal dysplasia associated with neurofibromatosis, and vascular anomalies.
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PMID:Congenitally absent lumbar pedicle: a reappraisal. 646 53

Upon autopsy of a 67-year-old male who died of recurrence and metastasis from a carcinoma of the colon, early esophageal carcinoma was found. Diffuse slight thickening and longitudinal linear thinning with brownish discoloration were found in the esophageal mucosa. Upon microscopical examination, the esophageal epithelium showed mild dysplasia, severe dysplasia or intramucosal carcinoma. A diagram of the distribution of these lesions indicated that the carcinoma arose multicentrically in the lower two-third of the esophagus and always within, or adjacent to, the area of severe dysplasia.
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PMID:[A case with intramucosal carcinoma of the esophagus in widely expanding dysplasia--an autopsy case with simultaneous double-cancer of the esophagus and sigmoid colon]. 647 98

We report a boy with unusual facial appearance, melanotic patches ("coast-of-Maine" type), myelofibrosis, recurrent femoral fractures, and widespread fibrous dysplasia of bone. Biochemical findings included raised serum alkaline phosphatase (bone isozyme) and 1,25-(OH)2 vitamin D, and low serum phosphorus levels. Elevated urinary excretion rates of total hydroxyproline, glycylproline, and gamma-carboxyglutamic acid indicated increased turnover of bone matrix. Transiliac bone biopsy showed a dearth of marrow elements, greatly increased bone turnover, and absence of normal trabecular organization. Serial radiographs showed progressive cortical thinning and loss of bony trabeculae. Calcitonin and etidronate treatments had no lasting effect on the progressive bone disease. The term "panostotic fibrous dysplasia" is suggested for this condition.
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PMID:Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. 684 3

Observation of a case of progressive bilateral parietal thinning within a period of 14 years induced us to study skull films of 3,636 consecutive patients. Parietal thinning was found in 86 patients (2.37%). It was more common in women, with a sex ratio of 1:1.9. The mean age of the females was 72 years, and that of the males 63 years. Previous skull films of 25 of these patients were available and showed progression in 10. It is concluded that parietal thinning is a slowly progressive disease of middle-aged and old patients and is not an anatomical variant or congenital dysplasia of the diploe.
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PMID:Progressive bilateral thinning of the parietal bones. 707 80

Two patients with fibromuscular dysplasia of the internal carotid artery have been studied. Our patients' clinical histories suggest that cerebral symptoms were due either to episodic arterial embolization or progressive arterial occlusion. The radiological features were characteristic. Surgery of cervical vessels was performed with benefit in both cases. Histopathology of the carotid arteries showed segmental lesions with alternating marked thickening and thinning of the media and irregular hyperplasia of the intima.
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PMID:[Report of two patients with fibromuscular dysplasia of the internal carotid artery (author's transl)]. 725 12


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