Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018801 (heart failure)
 72,216 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A Japanese girl with polycystic kidney disease (PKD) developed normally, but at 8 months of age, she was hospitalized for acute onset dyspnea. On the day after admission to hospital, her general condition suddenly became worse. An echocardiogram showed left ventricular dilatation with thin walls, severe mitral valve regurgitation, and a reduced ejection fraction. She died of acute cardiac failure 3 hours after the sudden change. Postmortem analysis with light microscopy showed disarray of cardiomyocytes without obvious infiltration of lymphocytes, and we diagnosed her heart failure as idiopathic dilated cardiomyopathy (DCM). Clinical exome sequencing showed compound heterozygous variants in JPH2 (p.T237A/p.I414L) and a heterozygous nonsense mutation in PKD1 (p.Q4193*). To date, several variants in the JPH2 gene have been reported to be pathogenic for adult-onset hypertrophic cardiomyopathy or DCM in an autosomal dominant manner and infantile-onset DCM in an autosomal recessive manner. Additionally, autosomal dominant polycystic kidney disease is a systemic disease associated with several extrarenal manifestations, such as cardiomyopathy. Here we report a sudden infant death case of DCM and discuss the genetic variants of DCM and PKD.
 ...
PMID:Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants. 3287 64

Despite many medical and socioeconomic advantages, peritoneal dialysis (PD) is an underutilized dialysis modality that in most countries is used by only 5%-20% of dialysis patients, while the vast majority are treated with in-center hemodialysis. Several factors may explain this paradox, such as lack of experience and infrastructure for training and monitoring of PD patients, organizational issues, overcapacity of hemodialysis facilities, and lack of economic incentives for dialysis centers to use PD instead of HD. In addition, medical conditions that are perceived (rightly or wrongly) as contraindications to PD represent barriers for the use of PD because of their purported potential negative impact on clinical outcomes in patients starting PD. While there are few absolute contraindications to PD, high age, comorbidities such as diabetes mellitus, obesity, polycystic kidney disease, heart failure, and previous history of abdominal surgery and renal allograft failure, may be seen (rightly or wrongly) as relative contraindications and thus barriers to initiation of PD. In this brief review, we discuss how the presence of these conditions may influence the strategy of selecting patients for PD, focusing on measures that can be taken to overcome potential problems.
 ...
PMID:Peritoneal dialysis patient selection from a comorbidity perspective. 3309 12


<< Previous 1 2 3 4 5