id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
fac:12557758 | Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family. | [
"A French family in which three individuals had familial amyloid polyneuropathy (FAP) was investigated. The proband presented cardiomyopathy with atrial arrhythmia and then developed axonal polyneuropathy, carpal tunnel syndrome, and sclerodactyly. Nucleotide sequencing of exons 2, 3 and 4 of the transthyretin (TTR... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n French family in which three individuals had familial amyloid polyneuropathy (FAP)\n <span style=\"font-... | [
"axonal polyneuropathy"
] | [
"heterozygosity for a single base change in the second position of codon 47",
"G to C transversion predicts replacement of a glycine by an alanine at position 47 in the mature protein",
"mutation (G47A)"
] | [
"cardiomyopathy with atrial arrhythmia",
"carpal tunnel syndrome",
"sclerodactyly"
] | null | [
"French family in which three individuals had familial amyloid polyneuropathy (FAP)",
"Italian",
"non-Italian family"
] | null | null |
fac:12039669 | Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. | [
"A 70-year-old Japanese man with amyloid polyneuropathy associated with a Val 107 transthyretin (TTR) mutation is reported. The patient presented with carpal tunnel syndrome, cardiomyopathy, bulbar palsy, dysphonia and polyneuropathy. DNA analysis of the TTR gene revealed a point mutation responsible for substituti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 70-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"amyloid polyneuropathy"
] | [
"Val 107 transthyretin (TTR) mutation",
"point mutation responsible for substitution of valine for isoleucine at position 107 of the TTR molecule",
"Val 107 TTR mutation",
"Val 107 TTR mutation"
] | [
"carpal tunnel syndrome",
"cardiomyopathy",
"bulbar palsy",
"dysphonia",
"polyneuropathy",
"carpal tunnel syndrome",
"cardiomyopathy",
"bulbar palsy",
"dysphonia"
] | null | [
"Japanese"
] | null | null |
fac:12000196 | Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred. | [
"The most frequent localization of amyloid in transthyretin (TTR) mutations is in the peripheral nerve, causing familial amyloidpolyneuropathy (FAP). It is generally accompanied by involvement of other organs such as the myocardium and kidney. To date, over 70 TTR point mutations have been reported in literature, w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most frequent localization of amyloid in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transthyretin (TTR) mutations\n <span style=\"font-size: 0.8e... | [
"transthyretin (TTR) mutations",
"familial amyloidpolyneuropathy (FAP)"
] | [
"TTR point mutations",
"mutation in the TTR gene",
"point mutation in exon 2 position 47 of the TTR gene, encoding the substitution of glycine with glutamate"
] | [
"involvement of other organs such as the myocardium and kidney",
"peripheral neuropathy",
"autonomic dysfunction",
"cardiomyopathy",
"renal involvement",
"symptoms were very severe"
] | null | [
"Italian"
] | null | [
"did not survive long"
] |
fac:12000195 | Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy. | [
"A Japanese case with familial amyloidotic polyneuropathy (FAP) associated with the transthyretin mutation Thr60Ala (Appalachian-type mutation) is described This is the first reported case of a non-Caucasian harboring this type of TTR mutation. The patient developed severe late-onset restrictive cardiomyopathy as w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"familial amyloidotic polyneuropathy (FAP)",
"Appalachian-type FAP"
] | [
"transthyretin mutation Thr60Ala (Appalachian-type mutation)",
"type of TTR mutation"
] | [
"severe late-onset restrictive cardiomyopathy",
"sensorimotor and autonomic polyneuropathy"
] | null | [
"Japanese",
"non-Caucasian"
] | null | null |
fac:11791619 | Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family. | [
"The Ile122 transthyretin variant associated with restrictive cardiomyopathy has been described in African-Americans and estimated to be present in approximately 4% of the Black population. We report the first American-Caucasian family with cardiomyopathy due to the TTR Ile122 mutation. The high prevalence of this ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ile122 transthyretin variant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"restrictive cardiomyopathy",
"autosomal dominant systemic amyloidosis",
"restrictive cardiomyopathy"
] | [
"Ile122 transthyretin variant",
"TTR Ile122 mutation"
] | null | null | [
"African-Americans",
"American-Caucasian"
] | null | [
"inappropriate treatment"
] |
fac:11310496 | Recurrent cerebral embolism in a familial amyloid polyneuropathy patient who received partial liver transplantation from a living donor. | [
"Cerebral embolism in relation to cardiac amyloidosis has not been widely noted. A 47-year-old woman who had been suffering from familial amyloid polyneuropathy (FAP) for 7 years was treated with partial liver transplantation from a living donor and her early postoperative course was uneventful. During the 391st to... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cerebral embolism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"cardiac amyloidosis",
"familial amyloid polyneuropathy (FAP)",
"Amyloid heart"
] | null | [
"Cerebral embolism",
"uneventful",
"recurrent cerebral infarctions",
"splenic infarction",
"intracardiac thrombi adhering to the mitral valve and left atrium",
"systemic embolism"
] | [
"for 7 years",
"partial liver transplantation from a living donor"
] | null | null | [
"no disorders capable of producing cerebral embolism"
] |
fac:11230714 | A case of late onset cardiac amyloidosis with a new transthyretin variant (lysine 92). | [
"A new transthyretin (TTR) variant (lysine 92), which causes late onset cardiac amyloidosis, is described in a 71-year-old man. The patient at first had syncope due to ventricular tachycardia and was admitted our hospital. Typical findings of cardiac amyloidosis were observed by echocardiography, and a diagnosis of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new transthyretin (TTR) variant (lysine 92)\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"late onset cardiac amyloidosis",
"systemic amyloidosis"
] | [
"new transthyretin (TTR) variant (lysine 92)",
"novel mutation in the transthyretin gene encoding 92 glutamine --> lysine",
"heterozygous for the TTR Lys92 allele"
] | [
"syncope",
"ventricular tachycardia",
"cardiac amyloidosis",
"died",
"gradually worsening congestive heart failure"
] | null | null | null | null |
fac:10842718 | Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. | [
"Cardiac failure in transthyretin (TTR) amyloidosis patients has been shown to be caused by different mutations in the TTR gene. In the present case, a 73-year-old man from Northern Sweden was evaluated for heart failure. Amyloid deposits were found in subcutaneous fat and in intestinal biopsies. The presence of a ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"transthyretin (TTR) amyloidosis",
"systemic ATTR amyloidosis"
] | [
"mutations in the TTR gene",
"band shift was seen in exon 2",
"single base-pair substitution (G1724T)",
"transversion results in an amino acid substitution at codon 45, alanine to serine (ATTR Ala45Ser)",
"novel mutation",
"amyloidogenic TTR mutation"
] | [
"Cardiac failure",
"heart failure",
"evidence of a restrictive cardiomyopathy"
] | [
"10 years previously been operated for a bilateral carpal tunnel syndrome"
] | [
"Northern Sweden",
"Swedish"
] | [
"presence of a variant form of TTR",
"in the plasma"
] | [
"otherwise no symptoms were present that could be attributed to his systemic amyloidosis",
"No axonal polyneuropathy was noted at nerve conduction studies"
] |
fac:10842705 | A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. | [
"We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We detected a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n point mutation in the transthyretin (TTR) gene\n <span style=\"font-size: 0.8em; font-weight... | [
"familial amyloidotic polyneuropathy (FAP)"
] | [
"point mutation in the transthyretin (TTR) gene",
"mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3",
"both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR",
"of this mutation is near the 3' end of exon 3"
] | [
"sensorimotor polyneuropathy",
"severe autonomic dysfunction",
"cardiomyopathy"
] | null | null | null | null |
fac:10664115 | Sequential (domino) transplantation of the liver in a transthyretin-50 familial amyloid polyneuropathy. Special reference to cardiological diagnosis and complications. | [
"General shortage of cadaveric organs has led to a search for alternative methods to expand the donor pool. Sequential (domino) transplantation is yet another attempt to compensate for the declining consent to organ donation.",
"To qualify for a domino liver transplantation, the following preconditions must be fu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">General shortage of cadaveric organs has led to a search for alternative methods to expand the donor pool. \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Se... | [
"Familial amyloid polyneuropathy (FAP)",
"FAP TTR-50 variant"
] | [
"genetic defect in the host",
"autosomal dominant disease",
"genetic defect for transthyretin (TTR)"
] | [
"extrahepatic disease",
"liver must be fully functional",
"myocardial symptoms",
"peripheral polyneuropathy",
"arrhythmias",
"restrictive cardiomyopathy",
"improve cardiac contractility",
"very short ischemic time",
"excellent liver function"
] | [
"Sequential (domino) transplantation",
"domino liver transplantation",
"domino liver transplantation",
"veno-venous bypass or a cardiac pacemaker",
"type of anastomosis of the suprahepatic inferior vena cava",
"domino procedure",
"living donors",
"recipients",
"FAP livers"
] | null | [
"TTR production and deposition"
] | [
"declining consent to organ donation"
] |
fac:10571824 | A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells. | [
"Transthyretin-Met 30 (TTR-Met 30) is a variant of transthyretin and is usually associated with familial amyloid polyneuropathy. It is rare that patients with TTR-Met 30 will primarily develop amyloid cardiomyopathy. This report presents a patient with late-onset TTR-Met 30 who primarily developed amyloid cardiomyo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin-Met 30 (TTR-Met 30)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"familial amyloid polyneuropathy",
"amyloid cardiomyopathy",
"late-onset",
"amyloid cardiomyopathy"
] | [
"Transthyretin-Met 30 (TTR-Met 30)",
"variant of transthyretin",
"TTR-Met 30",
"TTR-Met 30"
] | [
"less amyloid polyneuropathy in the peripheral nervous system"
] | null | null | null | null |
fac:10455100 | Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. | [
"An 83 year old white man with atrial fibrillation was admitted to hospital after a cerebral infarct. Echocardiography was characteristic of cardiac amyloid deposition and subsequent tests confirmed amyloidosis of transthyretin (TTR) type, in association with the Ile122 mutation of the TTR gene; this has only been ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 83 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"amyloidosis of transthyretin (TTR) type,",
"Cardiac amyloidosis",
"autosomal dominant cardiac TTR amyloidosis"
] | [
"Ile122 mutation of the TTR gene"
] | [
"atrial fibrillation",
"cerebral infarct",
"cardiac amyloid deposition",
"cardiac failure",
"arrhythmia",
"prevent complications among affected family members"
] | [
"supportive treatment"
] | [
"white",
"African Americans"
] | null | [
"Haplotype analysis did not suggest a different founder than for the African Ile122 mutation",
"resistant to conventional treatment"
] |
fac:10439117 | A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. | [
"The detection and characterization of a new transthyretin (ATTR) variant, Ser23Asn, associated with cardiomyopathy in a Portuguese patient with familial amyloidosis is described. Isoelectric focusing (IEF) of serum from the propositus demonstrated heterozygosity for the presence of wild type and variant ATTR. A co... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The detection and characterization of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new transthyretin (ATTR) variant, Ser23Asn\n <span style=\"font-si... | [
"cardiomyopathy",
"familial amyloidosis"
] | [
"new transthyretin (ATTR) variant, Ser23Asn",
"heterozygosity for the presence of wild type and variant ATTR",
"amino acid replacement in the variant protein"
] | null | null | [
"Portuguese"
] | null | null |
fac:10226117 | Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant. | [
"Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The Methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the heart, kidneys, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Familial amyloidotic polyneuropathy"
] | [
"inherited form of amyloidosis",
"mutant form of a protein called transthyretin",
"Methionine-30 variant"
] | [
"fatal",
"die",
"improvement of symptoms",
"stops progression of the disease",
"clear progression of cardiomyopathy and neuropathy"
] | [
"Liver transplantation",
"liver transplantation"
] | null | null | null |
fac:10211412 | A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. | [
"A new TTR variant, Val122Ala, was characterized in an individual who carried the Gly6Ser polymorphism on the opposite allele. The main clinical feature of this familial transthyretin amyloidosis (ATTR) variant is extensive cardiomyopathy. The detection and characterization of the variant were performed using a com... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new TTR variant, Val122Ala\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"familial transthyretin amyloidosis (ATTR) variant"
] | [
"new TTR variant, Val122Ala",
"carried the Gly6Ser polymorphism on the opposite allele"
] | [
"extensive cardiomyopathy"
] | null | null | null | null |
fac:10036587 | A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. | [
"A sixty-three year old French man presented with isolated late-onset amyloid cardiomyopathy proven by endomyocardial biopsy. There was no known family history of amyloidosis. Immunohistochemistry of cardiac deposits suggested that amyloi fibrils were derived from transthyretin. DNA sequencing revealed a point muta... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sixty-three year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | null | [
"point mutation in exon 2 of the transthyretin gene responsible for a novel amyloidogenic variant Asp42."
] | [
"isolated late-onset amyloid cardiomyopathy"
] | null | [
"French"
] | null | [
"no known family history of amyloidosis"
] |
fac:9916936 | Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1. | [
"Autosomal dominant hereditary amyloidosis with a unique cutaneous and cardiac presentation and death from heart failure by the sixth or seventh decade was found to be associated with a previously unreported point mutation (thymine to cytosine, nt 1389) in exon 4 of the apolipoprotein A1 (apoA1) gene. The predicted... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Autosomal dominant hereditary amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Autosomal dominant hereditary amyloidosis",
"transthyretin amyloidosis"
] | [
"previously unreported point mutation (thymine to cytosine, nt 1389) in exon 4 of the apolipoprotein A1 (apoA1) gene",
"substitution of proline for leucine at amino acid position 90",
"extra positive charge",
"substitution Leu90Pro does not result in any charge modification"
] | [
"unique cutaneous and cardiac presentation",
"death from heart failure"
] | null | null | null | [
"amino acid residues"
] |
fac:9771673 | Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred. | [
"More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late mutation are s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">More than 40 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n point mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | null | [
"point mutations",
"in diverse points of the plasma protein transthyretin (TTR)",
"Met30",
"Tyr77 mutation",
"Tyr77 mutation",
"Met30 mutation",
"Tyr77 TTR mutation",
"Tyr77 mutation"
] | [
"initial and sometimes prolonged carpal tunnel syndrome",
"generalized peripheral nerve involvement",
"restrictive cardiomyopathy",
"intestinal malabsortion",
"severe impairment"
] | [
"liver transplantation",
"liver transplant"
] | null | null | null |
fac:9547003 | Transthyretin mutation (serine 84) associated with familial amyloid polyneuropathy in a Hungarian family. | [
"A Hungarian family with familial amyloid polyneuropathy (FAP) was studied. The disease presented in two individuals with carpal tunnel syndrome in the fourth and fifth decades of life. The proband subsequently developed vitreous opacities requiring vitrectomy and now has evidence of cardiomyopathy. Single strand c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hungarian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"familial amyloid polyneuropathy (FAP)",
"FAP"
] | [
"variant AGC (serine) codon at amino acid position 84 of the amyloid precursor protein, transthyretin (TTR)",
"single amino acid substitution in TTR",
"TTR gene mutation",
"TTR gene haplotype analysis"
] | [
"carpal tunnel syndrome",
"vitreous opacities",
"cardiomyopathy"
] | [
"vitrectomy"
] | [
"Hungarian",
"Indiana kindred with Swiss/German origin",
"Europe",
"Hungarian",
"Indiana kindreds may have a common origin",
"Hungary"
] | null | null |
fac:9455044 | [Myocardial scintigraphic studies with 123I-MIBG, 201Tl and 99mTc-PYP in patients with cardiac amyloidosis]. | [
"Myocardial scintigraphic studies, using 123I-metaiodobenzylguanidine (MIBG), 99mTc-pyrophosphate (PYP) and 201Tl were performed in 4 patients with cardiac amyloidosis. In MIBG myocardial images, 2 patients with familial amyloid polyneuropathy (FAP) showed complete or partial defect and the other 2 with primary amy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Myocardial scintigraphic studies, using 123I-metaiodobenzylguanidine (MIBG), 99mTc-pyrophosphate (PYP) and 20... | [
"cardiac amyloidosis",
"familial amyloid polyneuropathy (FAP)",
"primary amyloidosis",
"FAP",
"FAP",
"primary amyloidosis",
"primary amyloidosis",
"cardiac amyloidosis",
"cardiac amyloidosis"
] | null | [
"complete or partial defect",
"diffuse myocardial uptake of PYP was mild",
"intense myocardial uptake",
"sympathetic nerve abnormalities"
] | null | null | null | [
"normal myocardial uptake of MIBG",
"normal myocardial uptake of 201Tl"
] |
fac:9437328 | Bilateral multifocal retinal arteriolar sheathing as the only ocular finding in hereditary amyloidosis. | [
"To report the early ocular findings in hereditary amyloidosis.",
"Case report of a visually asymptomatic, 52-year-old Mexican man with systemic manifestations of amyloidosis (peripheral neuropathy, restrictive cardiomyopathy), with a positive family history, and with amyloid on an endomyocardial biopsy specimen,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n early ocular findings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"hereditary amyloidosis",
"hereditary amyloidosis",
"hereditary amyloidosis"
] | null | [
"early ocular findings",
"visually asymptomatic",
"systemic manifestations of amyloidosis",
"peripheral neuropathy",
"restrictive cardiomyopathy)",
"amyloid",
"bilateral multifocal sheathing or cuffing of the peripheral retinal arterioles",
"Focal retinal periarteriolar plaques of amyloid"
] | null | [
"Mexican"
] | null | [
"extensive evaluation for retinal vasculitis",
"discontinued"
] |
fac:9314208 | Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation. | [
"We herein describe three siblings with familial amyloid cardiomyopathy in a Japanese family, who demonstrated an Ile-50 mutation in the transthyretin gene. In their clinical course, the symptoms started at from 50 to 55 years of age, and two cases died within 5 years. However, one case is still alive seven years a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein describe three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n siblings with familial amyloid cardiomyopathy\n <span style=\"font-size: 0.8em; f... | null | [
"Ile-50 mutation in the transthyretin gene",
"mutation of the transthyretin gene"
] | [
"died"
] | [
"implantation of a pacemaker for a complete atrio-ventricular block",
"dimethylsulphoxide"
] | [
"Japanese"
] | null | null |
fac:9333604 | [Liver transplantation in familial amyloid polyneuropathy. Case report and review of the literature]. | [
"A 59-year old male of German origin noticed exercise-independent cardiac arrhythmia two years before admission. An alanine 47 transthyretin variant of Familial Amyloid Polyneuropathy with hypertrophic cardiomyopathy, peripheral sensory-motor polyneuropathy, I, degree AV heart block was diagnosed. To diminish produ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 59-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"alanine 47 transthyretin variant of Familial Amyloid Polyneuropathy",
"hypertrophic cardiomyopathy",
"progression of amyloidosis",
"familial amyloid polyneuropathy"
] | null | [
"exercise-independent cardiac arrhythmia",
"peripheral sensory-motor polyneuropathy, I, degree AV heart block",
"inappetence",
"return of appetite",
"weight gain",
"marked improvement",
"improvement of sensory-motor polyneuropathy",
"regression of electromyographic changes"
] | [
"orthotopic liver transplantation",
"transplant",
"Postoperatively",
"chemically defined enteral nutrition regime that was discontinued after 30 months",
"transplantation",
"orthotopic liver transplantation"
] | [
"German"
] | [
"diminish production and deposition of mutant transthyretin",
"Only traces of variant transthyretin were detectable in plasma samples"
] | [
"Echocardiographic findings remained unchanged",
"no additional symptoms"
] |
fac:9212894 | Scan findings of various myocardial SPECT agents in a case of amyloid polyneuropathy with suspected myocardial involvement. | [
"A 31-year-old male having familial amyloid polyneuropathy underwent a Tc-99m(V)-DMSA study to evaluate the myocardial involvement. The patient also underwent T1-201, I-123-BMIPP and I-123-MIBG myocardial SPECT studies to evaluate blood perfusion, fatty acid metabolism and sympathetic function of the heart, respect... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 31-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"familial amyloid polyneuropathy"
] | null | [
"myocardial involvement",
"heart",
"uptake to the myocardium",
"myocardial involvement of amyloidosis",
"severe impairment of sympathetic function"
] | null | null | null | [
"T1-201 and I-123-BMIPP studies",
"normal uptake",
"normal blood perfusion and fatty acid metabolism",
"no uptake to the heart"
] |
fac:8692810 | A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis. | [
"The most frequent form of inherited amyloidoses is associated with mutations in the transthyretin (TTR) gene coding for 127-amino acid residues of four identical, noncovalently linked subunits that form a pair of dimers in the plasma protein complex. Amyloid fibrils containing the variant and to a lesser extent th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most frequent form of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inherited amyloidoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"polyneuropathy",
"severe amyloid cardiomyopathy"
] | [
"inherited amyloidoses",
"mutations in the transthyretin (TTR) gene coding for 127-amino acid residues of four",
"amino acid substitutions distributed throughout the TTR sequence",
"amyloidogenic amino acid substitutions",
"novel amyloidogenic Val-20 to Ile mutation",
"change in the interactions between t... | [
"cardiomyopathy"
] | null | [
"German"
] | [
"unfolding behavior of the Ile-20 monomer in urea gradients",
"tetramer stability was significantly reduced"
] | null |
fac:8839006 | Technetium-99m (Tc-99m) diphosphono-propanedicarboxylic acid bone tracer uptake and Tc-99m sestamibi distribution in cardiac amyloidosis--a case report. | [
"It has long been recognised that significant bone tracer localisation in the myocardium is a good indicator for amyloid involvement of the heart in the clinical context of systemic amyloidosis. In this case report, although myocardial tissue diagnosis of amyloidosis was not made, the massive myocardial uptake of b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It has long been recognised that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n significant bone tracer localisation in the myocardium\n <span style=\"fo... | [
"systemic amyloidosis",
"familial amyloid polyneuropathy"
] | null | [
"amyloid involvement of the heart"
] | null | null | null | [
"myocardial tissue diagnosis of amyloidosis was not made",
"lack of correlation between the intensity of myocardial uptake of bone tracer and viability of the myocardium",
"not deposit in infarcted myocardial tissue"
] |
fac:7643356 | A new transthyretin variant (Ser 24) associated with familial amyloid polyneuropathy. | [
"An American kindred with systemic amyloidosis presenting with carpal tunnel syndrome, peripheral neuropathy, and cardiomyopathy is reported. The transthyretin gene of a patient was analysed by direct DNA sequencing and both cytosine and thymine were present at the first base of codon 24. This new point mutation in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n American\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | null | [
"both cytosine and thymine were present at the first base of codon 24",
"new point mutation in exon 2 results in the amino acid substitution of serine for proline in the A-B loop of the transthyretin molecule",
"mutant allele"
] | [
"carpal tunnel syndrome",
"peripheral neuropathy",
"cardiomyopathy"
] | null | [
"American"
] | null | null |
fac:7746897 | [Cardiac amyloidosis secondary to multiple myeloma detected by echocardiography]. | [
"The authors present the clinical history of a 70-year-old male with arterial hypertension who sought medical advice because of dyspnea on exertion, orthopnea and episodes of paroxysmal nocturnal dyspnea. The electrocardiogram showed left arterial hemiblock and abnormalities of ventricular repolarization compatible... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors present the clinical history of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 70-year-old\n <span style=\"font-size: 0.8em; font-weight: b... | [
"infiltrative-restrictive myopathy"
] | null | [
"arterial hypertension",
"dyspnea on exertion",
"orthopnea",
"episodes of paroxysmal nocturnal dyspnea",
"left arterial hemiblock",
"abnormalities of ventricular repolarization compatible with a left lateral endocardiac lesion",
"hypertrophied left ventricle with a small ventricular cavity",
"expired"... | null | null | [
"creatinine 4.9 mg/dl",
"BUN 133 mg/dl",
"alkaline phosphatase 204 i.v"
] | null |
fac:7802531 | [Contribution of myocardial biopsy and immunohistochemistry to the prognostic evaluation of cardiac amyloidosis]. | [
"The authors report four cases of cardiac amyloidosis, the diagnosis of which was confirmed by endomyocardial biopsy. They underline the value of immuno-histological studies with labelling of the biopsy fragments with anti-transthyretin and anti-light chain immunoglobulin antibodies. This approach provides a more p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report four cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"cardiac amyloidosis",
"amyloidosis"
] | null | null | null | null | [
"anti-transthyretin and anti-light chain immunoglobulin antibodies"
] | null |
fac:7987869 | Amyloid deposits inside myocardial fibers in transthyretin-Met30 familial amyloidotic polyneuropathy. A histological and biochemical study. | [
"A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule. Echocardiographic and hemodynamic studies suggested the presence of a progressive infiltrative cardiomyopath... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"familial amyloidotic polyneuropathy",
"progressive infiltrative cardiomyopathy"
] | [
"Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule"
] | [
"severe cardiac involvement",
"primary involvement of the heart",
"autonomic denervation",
"cardiomyopathy"
] | null | null | [
"Norepinephrine content of myocardial bioptic specimens was about threefold lower than normal",
"sharp decrease in the activity of the enzyme subserving electrochemical conduction through the axonal membrane, Na+, K(+)-ATPase."
] | null |
fac:8261706 | [A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement]. | [
"We report a 65-year-old man with amyloidotic polyneuropathy, who first suffered from heart failure at the age of 57, 3 years before the onset of neurological symptoms. He had no obvious family history. We analysed the transthyretin gene of the patient and 6 asymptomatic family members using polymerase chain reacti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 65-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"amyloidotic polyneuropathy",
"type I FAP",
"Type I FAP",
"Type I FAP",
"Type I FAP"
] | [
"single amino acid substitution of a methionine for valine at position 30, which is a common mutation of Japanese",
"TTR mutation at position 30"
] | [
"heart failure",
"neurological symptoms",
"cardiac conduction block",
"severe myocardial involvement"
] | null | null | null | [
"no obvious family history",
"signs of heart failure"
] |
fac:8038017 | Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. | [
"Cardiac amyloidosis is caused by amyloid deposits derived from different human plasma proteins. It can lead to cardiac conduction disturbances, restrictive cardiomyopathy, and low output heart failure. The heart is variably involved during the development of systemic amyloidosis and seems to be more frequently aff... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Cardiac amyloidosis",
"systemic amyloidosis",
"immunoglobulin (primary)",
"reactive (secondary) amyloidosis",
"Amyloid",
"Isolated atrial amyloid",
"senile cardiac amyloid",
"polyneuropathy",
"cardiac amyloidosis",
"hereditary amyloidosis",
"of the autosomal dominant transthyretin (TTR) type",
... | [
"heterozygotes for a single nucleotide change in the gene for TTR that resulted in amino acid substitutions in the mature protein",
"new TTR genetic variant",
"heterozygosity",
"isoleucine at position 68 of the amino acid sequence was replaced by leucine"
] | [
"cardiac conduction disturbances",
"restrictive cardiomyopathy",
"low output heart failure",
"anginal pain",
"arrhythmia",
"suggestive of a pseudoinfarction pattern",
"signs of hypertrophic nonobstructive cardiomyopathy",
"increased ventricular filling pressures and a prominent \"a\" wave",
"died in... | null | [
"German"
] | [
"atrial natriuretic peptide",
"normal prealbumin (transthyretin)",
"normal TTR protein",
"electrically neutral TTR variant"
] | null |
fac:1335038 | Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka. | [
"A Japanese patient with systemic amyloidosis associated with a transthyretin (TTR) variant Arg50 is presented. This 41-year-old man became impotent and developed decreased pain sensation in his hands, and then sensory loss and muscle wasting in his lower legs, and cardiomyopathy appeared. The symptoms progressed a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"systemic amyloidosis"
] | [
"transthyretin (TTR) variant Arg50",
"genetic mutation, causing a Ser50-->Arg substitution of the TTR molecule",
"normal TTR Ser50 and mutant TTR Arg50"
] | [
"impotent",
"decreased pain sensation in his hands",
"sensory loss",
"muscle wasting in his lower legs",
"cardiomyopathy",
"died",
"congestive heart failure"
] | null | [
"Japanese"
] | [
"Plasma TTR"
] | null |
fac:1353861 | Familial amyloid polyneuropathy related to transthyretin Gly42 in a Japanese family. | [
"A Japanese family is described in which 6 persons showed familial amyloid polyneuropathy (FAP). Mean ages of onset were 38 for 4 males and 54 for 2 females. Three of the 6 became emaciated and died after 4 to 10 years. In 5, muscular weakness and autonomic dysfunction were the initial symptoms followed by sensory ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"familial amyloid polyneuropathy (FAP)",
"Amyloidotic cardiomyopathy",
"FAP"
] | [
"single base change (A----G) that led to amino acid substitution (Glu42----Gly)",
"base change produced a new restriction site for endonuclease Cfr13 I in exon 2",
"base change",
"mutant TTR Gly42 gene",
"variant of TTR Gly42"
] | [
"emaciated",
"died",
"muscular weakness",
"autonomic dysfunction",
"sensory disturbances"
] | null | [
"Japanese"
] | [
"serum"
] | null |
fac:2002274 | Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122). | [
"Senile cardiac amyloidosis, also known as senile systemic amyloidosis, is a sporadic disease of late onset but with increasing incidence with age. Recently it has been shown in one case that amyloid deposits contained a transthyretin variant with an isoleucine for valine substitution at position 122. A second case... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Senile cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Senile cardiac amyloidosis",
"senile systemic amyloidosis",
"restrictive cardiomyopathy",
"cardiac amyloidosis"
] | [
"transthyretin variant with an isoleucine for valine substitution at position 122",
"transthyretin isoleucine 122 variant",
"genetic transmission of the isoleucine-122 transthyretin variant"
] | [
"died"
] | null | null | null | [
"without being evaluated for amyloidosis"
] |
fac:2317404 | Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. | [
"Five generations of an Italian family with an autosomal dominant restrictive cardiomyopathy are described. Members of four generations were examined. Symptoms usually developed in the third or fourth decade but the disease did occur in childhood. Initially the condition was characterised by normal ventricular size... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Five generations of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Italian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"progressive, non-wasting skeletal myopathy"
] | null | [
"increased diastolic filling pressures in both ventricles",
"bi-atrial enlargement",
"left ventricular filling pattern of \"dip and plateau\"",
"non-specific changes in the ST segment and T wave",
"changes indicating considerable atrial enlargement",
"Bundle branch blocks",
"complete atrioventricular bl... | null | [
"Italian"
] | null | [
"normal ventricular size and systolic function",
"no specific features",
"excluded the endomyocardial fibrosis of eosinophilic heart disease, amyloid, and specific heart muscle diseases",
"no features typical of eosinophilic heart disease",
"no abnormality"
] |
fac:2214348 | Familial amyloidotic polyneuropathy in Hokkaido: a case report. | [
"A 54-year-old man began to feel numbness in his hands at the age of 42 (1975). His condition became progressively worse accompanied by muscle weakness of the lower limbs and glove and stocking paresthesia of the extremities. The patient was admitted to our hospital on March 23, 1987. Neurological examination revea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 54-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"cardiomyopathy",
"familial amyloidotic polyneuropathy (FAP)"
] | null | [
"numbness in his hands",
"muscle weakness of the lower limbs",
"glove and stocking paresthesia of the extremities",
"distal dominant muscle weakness",
"sensory disturbance",
"areflexia"
] | null | null | [
"abnormal serum transthyretin (TTR, a protein referred as prealbumin)"
] | [
"no abnormal findings on physical examination",
"asymptomatic carriers"
] |
fac:2560088 | [Noninvasive diagnosis of cardiac involvement by technetium-99m-pyrophosphate (Tc-99m PYP) myocardial scintigraphy in 2 cases of familial amyloid polyneuropathy and 1 case of secondary amyloidosis]. | [
"To validate the significance of technetium-99m-pyrophosphate (Tc-99m PYP) myocardial scintigraphy in diagnosing cardiac amyloidosis, 2 patients with familial amyloid polyneuropathy (FAP) and 1 patient with amyloidosis secondary to chronic rheumatic arthritis were studied. All three patients had echocardiographic a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To validate the significance of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n technetium-99m-pyrophosphate (Tc-99m PYP) myocardial scintigraphy\n <span ... | [
"cardiac amyloidosis",
"familial amyloid polyneuropathy (FAP)",
"amyloidosis secondary to chronic rheumatic arthritis",
"FAP",
"secondary amyloidosis",
"secondary amyloidosis",
"FAP"
] | null | [
"echocardiographic abnormalities",
"increased wall thickness of the interventricular septum and the left ventricular posterior wall",
"granular sparkling appearance in the septum",
"abnormal myocardial uptake of Tc-99m PYP was diffusely detected",
"cardiac involvement"
] | null | null | null | [
"showed no abnormality"
] |
fac:3370185 | Familial atrial standstill caused by amyloidosis. | [
"Three of nine siblings were affected by atrial standstill. Clinical, electrophysiological, and histological findings in two of these cases were studied. Electrophysiological studies showed persistent atrial standstill in one and partial atrial standstill in the other. Biopsy specimens of the right atria showed amy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Three of nine siblings were affected by atrial standstill\n <span style=\"font-size: 0.8em; font-weight: b... | [
"peripheral neuropathy"
] | null | [
"persistent atrial standstill",
"partial atrial standstill",
"renal dysfunction",
"Familial atrial standstill",
"atrial standstill"
] | null | null | null | [
"peripheral neuropathy, gastrointestinal disorder"
] |
fac:3058007 | [Familial primary disseminated amyloidosis (a new clinical form?)]. | [
"This report concerns two siblings we observed, one male the other female, who presented with primary disseminated amyloidosis. Repeated blood and urine examinations failed to demonstrate dysglobulinaemia. The brother developed, at the age of 51, extensive cutaneous amyloidosis with xanthochromia of the entire uppe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report concerns two siblings we observed, one \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"primary disseminated amyloidosis",
"amyloid cardiomyopathy",
"amyloid cardiomyopathy",
"amyloidosis",
"disseminated amyloidosis of the AL type",
"familial systemic amyloidosis",
"neuropathy",
"nephropathy",
"familial primary amyloidosis of the AL type"
] | null | [
"extensive cutaneous amyloidosis",
"xanthochromia of the entire upper part of his body",
"intractable cardiac failure",
"died",
"cutaneous amyloidosis in the form of yellowish and purpuric papules and plaques disseminated over the upper part of her body",
"moderate cardiac failure"
] | [
"heart transplantation",
"heart transplantation"
] | null | [
"SAA protein is present in normal concentrations"
] | [
"Repeated blood and urine examinations failed to demonstrate dysglobulinaemia",
"no renal of neurological amyloid lesions",
"no abnormality of serum or urinary globulins",
"without dysglobulinaemia"
] |
fac:3030336 | Hereditary amyloidosis: description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid. | [
"A family with hereditary amyloidosis characterized by peripheral neuropathy and cardiomyopathy is described. Lack of eye involvement sets their disease apart from the Indiana/Swiss familial amyloidotic polyneuropathy type II. The disease is of late onset; affected members die of cardiomyopathy after age 60. The la... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family with hereditary amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | null | null | [
"peripheral neuropathy",
"cardiomyopathy",
"die of cardiomyopathy",
"late onset"
] | null | [
"Indiana/Swiss familial amyloidotic polyneuropathy type II"
] | null | [
"Lack of eye involvement",
"lack of clinically significant neuropathy in several family members",
"misdiagnosis of the cardiomyopathy"
] |
fac:4079954 | Familial amyloid polyneuropathy. | [
"Amyloid fibrils were isolated from the myocardium of two patients with familial amyloid polyneuropathy. The solubilized amyloid fibril whole protein shared immunologic determinants with normal human serum prealbumin (transthyretin), but revealed subtle differences on immunoelectrophoresis and radial immunodiffusio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloid fibrils were isolated from the myocardium\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"familial amyloid polyneuropathy",
"familial amyloid polyneuropathy",
"cardiomyopathy"
] | null | [
"immunologic determinants with normal human serum prealbumin (transthyretin)"
] | null | null | [
"reacted with antitransthyretin",
"immunoblots",
"peptide fragments of fibronectin"
] | [
"devoid of amyloid P protein",
"commercial antitransthyretin, raised against the intact tetrameric protein failed to react with tissue amyloid"
] |
fac:2999267 | [Cardiac involvement in systemic amyloidosis: myocardial scintigraphic evaluation]. | [
"To assess the clinical significance of technetium-99m-pyrophosphate (Tc-99m-PYP), -methylene diphosphonate (Tc-99m-MDP) and thallium-201 (Tl-201) myocardial scintigraphy in the diagnosis of cardiac amyloidosis and in the differential diagnosis of cardiac diseases, 12 patients with biopsy-proved systemic amyloidosi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To assess the clinical significance of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n technetium-99m-pyrophosphate (Tc-99m-PYP), -methylene diphosphonate (T... | [
"cardiac amyloidosis",
"cardiac diseases",
"biopsy-proved",
"systemic amyloidosis",
"familial amyloid polyneuropathy (FAP)",
"primary amyloidosis",
"FAP",
"primary amyloidosis",
"FAP",
"primary amyloidosis",
"FAP",
"primary amyloidosis",
"FAP",
"primary amyloidosis",
"FAP",
"primary am... | null | [
"diffusely positive myocardial uptake, which was of greater intensity than that of the sternum",
"diffusely positive myocardial uptakes, but the intensity was less than that of the sternum",
"only equivocal myocardial uptakes",
"hepatic uptakes",
"both hepatic and thyroid uptakes",
"intensity of myocardia... | null | null | null | [
"other cardiac diseases",
"none",
"marked myocardial or other tissue uptakes",
"negative scans",
"neither myocardial perfusion defect nor low uptake on Tl-201 images was detected"
] |
fac:6977960 | Echocardiographic aspects of cardiac amyloidosis. | [
"We report the M-mode and two-dimensional echocardiographic findings in a patient with familial amyloidosis. The diagnosis was made by the clinical picture and histologic evidence of amyloid in peripheral nerve biopsy. Though the patient had no clinical sign of heart failure, extensive involvement of the heart was ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n M-mode and two-dimensional echocardiographic\n <span style=\"font-size: 0.8em; font-weight: ... | [
"familial amyloidosis",
"cardiac amyloidosis",
"constrictive pericarditis"
] | null | [
"extensive involvement of the heart",
"increased right ventricular wall thickness in conjunction with symmetric increase in left ventricular wall thickness",
"the entire interventricular septum and the papillary muscles were more dense than normal",
"high density echoes had a \"granular and sparkling\" patter... | null | null | null | [
"no clinical sign of heart failure"
] |
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