Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 51-year-old male presented with a chronic asymmetrical ptosis which was variable. Repeated anticholinesterase testing gave equivocal responses. The patient was treated for myasthenia gravis until a mass was detected in the orbit. Although rare, localized orbital amyloidosis should be considered in the diagnosis of patients with ptosis, particularly when the results of anticholinesterase testing are equivocal.
 ...
PMID:Orbital amyloidosis. 94 36

We report 4 cases of gelatin drop dystrophy corneal amyloidosis in two brothers and two sisters of the same family. The age of onset is between 1 and 10 years. The corneal signs are described at different stages of development. Lesions are initially asymmetrical. The typical is a subepithelial nodule starting in the center and then expanding to involve the whole cornea. There is no relationship between extension and outcome of the disease. Diagnostic is confirmed by histological examination. There was no consanguinity between parents and no other cases were found in the family. An immunological study with HLA typing was performed. All patients were treated with lamellar or transfixing keratoplasty with a follow-up of 2 to 5 years.
 ...
PMID:[Familial form of gelatin drop corneal dystrophy]. 188 Mar 40

The clinical and echocardiographic features of cardiac amyloidosis may closely resemble those of hypertrophic cardiomyopathy, and the disorders may thus be mixed up. The present study was undertaken in an attempt to identify features separating the two conditions by analysis of electro- and echocardiographic findings in patients with familial amyloid polyneuropathy and hypertrophic cardiomyopathy. Twenty-nine patients with familial amyloidosis and 22 with hypertrophic cardiomyopathy were studied. Particular attention was given to the sum of the S wave in V1 and R wave in V5 or V6, the echocardiographic left ventricular mass and cross-sectional area, the presence or absence of asymmetrical septal thickening, granular and sparkling myocardial appearance, thickened heart valves, systolic anterior motion of the mitral valve, and pericardial effusion. A granular and sparkling appearance of the myocardium and thickened heart valves were found to be the best predictors of cardiac amyloidosis, while low QRS amplitudes in relation to echocardiographic left ventricular mass and a pericardial effusion seemed less important. The presence of systolic anterior movement of the mitral valve, a large left ventricular mass and a sum of S in V1 and R in V5 or V6 greater than 35 mm indicated hypertrophic cardiomyopathy. When the four strongest predictors (left ventricular mass, thickened heart valves, a granular sparkling myocardial appearance, and systolic anterior movement of the mitral valve) were used to reclassify the present patients, 28 of 29 amyloidosis patients and 21 of 22 patients with hypertrophic cardiomyopathy were correctly categorized. Noninvasive methods may thus be useful for detecting the myocardial infiltrative process, and cardiac amyloidosis may be confidently diagnosed by typical noninvasive findings together with histopathological documentation of amyloid in an organ other than the heart.
 ...
PMID:Differentiation of cardiac amyloidosis and hypertrophic cardiomyopathy. A comparison of familial amyloidosis with polyneuropathy and hypertrophic cardiomyopathy by electrocardiography and echocardiography. 356 84

There are three types of cardiomyopathy: hypertrophic, dilated and restrictive. The diagnosis and prognosis of these three types may be assessed from Doppler echocardiographic data. In hypertrophic cardiomyopathy, the diagnostic criterion is parietal hypertrophy. This hypertrophy is asymmetrical and usually affects the interventricular septum. Ventricular outflow obstruction is not necessarily present. The left ventricle is small and analysis of mitral inflow usually shows abnormal relaxation (E/A ratio < 1). The prognosis of this type of cardiomyopathy seems to be related to ventricular arrhythmias and the relationship between the hypertrophy and the presence of arrhythmias remains controversial. Dilated cardiomyopathy is characterized by ventricular walls of normal or decreased thickness, an increase in left ventricular dimensions and a reduction in the ejection fraction. An end-diastolic left ventricular dimension > 70 mm and an ejection fraction < 25% are poor prognostic factors. Left ventricular filling is abnormal and severe cases show a restrictive type of profile; in this case, an E/A ratio > 2 carries a poor prognostic. A mitral deceleration time of E wave < 150 msec usually indicates a bad outcome. Restrictive types of cardiomyopathy are more rare, amyloidosis being the commonest cause. Symmetrical wall thickening and a small ventricular chamber are observed. In advanced stages with abnormal systolic function, an E/A mitral ratio > 2 and deceleration time < 150 msec, the outcome is rapidly fatal.
 ...
PMID:[Doppler echocardiographic investigation of cardiomyopathies]. 888 5

A growing body of literature has described familial leptomeningeal amyloidosis, a rare phenotype resulting from deposition of transthyretin (TTR) amyloid within the leptomeninges. We report herein the case of a patient with leptomeningeal amyloidosis presenting with hearing loss, asymmetrical polyneuropathy and sensory ataxia. This is the first Japanese case displaying TTR mutation at codon 25, replacing alanine with threonine. Neurophysiological examinations suggested demyelinating polyradiculoneuropathy, which improved dramatically after high-dose intravenous immunoglobulin treatment. Demyelinating polyneuropathy in our patient may be attributable to massive leptomeningeal amyloidosis, and no systemic organ involvement was identified. These characteristic clinical manifestations may have resulted from the Ala25Thr TTR gene mutation.
 ...
PMID:A case of biopsy-proven leptomeningeal amyloidosis and intravenous Ig-responsive polyneuropathy associated with the Ala25Thr transthyretin gene mutation. 1669 Apr 99

Cardiac amyloidosis typically presents with diastolic heart failure, but asymmetrical septal hypertrophy with outflow tract obstruction has been described. We illustrate the case of a 71-year-old woman with biopsy-proven cardiac amyloidosis and severe medical comorbidities with refractory severe heart failure who had asymmetric septal hypertrophy, systolic anterior motion (SAM) of the mitral valve, and a resting left ventricular outflow tract gradient of 86 mm Hg, increasing to 102 mm Hg on Valsalva maneuver. She underwent percutaneous transluminal septal myocardial ablation (PTSMA) with a dramatic resolution of her SAM and outflow tract obstruction, confirmed by intracavitary pressure wire measurements. PTSMA is technically feasible in this context, and correction of outflow tract obstruction may represent a new therapeutic target in cardiac amyloidosis.
 ...
PMID:Use of percutaneous transluminal septal myocardial ablation for relief of outflow tract obstruction in cardiac amyloidosis: a novel therapeutic target. 1696 77

A previously well 59-year-old lady with 70 kg weight loss and chronic diarrhoea over a 28-month period presented following collapse and subsequent diagnosis of pulmonary embolism. Previous investigations for this weight loss included normal gastroscopy and colonoscopy, CT and MRI abdomen, barium follow through and octreotide scan. She underwent echocardiogram which revealed myocardial speckling and asymmetrical left ventricular hypertrophy. Repeat oesophago-gastro-duodenoscopy and colonoscopy for rectal bleeding was performed. Colonoscopy revealed intramucosal haematomas and electron microscopy (EM) of the gastric biopsies confirmed amyloid deposition. Amyloidosis of the gastrointestinal (GI) tract and heart were confirmed on serum amyloid protein scan. GI amyloid is rare and symptoms include weight loss, diarrhoea, GI bleeding and gut dysmotility.1 GI amyloidosis should be considered as a diagnosis and sought when other common causes have been excluded. The greatest yield is by Congo red staining or EM of rectal specimens.
 ...
PMID:Gastric amyloidosis presenting with severe weight loss. 2276 88