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Phase 1 Study of AAV9.LAMP2B Gene Therapy in Danon Disease.
N Engl J Med
November 2024
From the University of California, San Diego Medical Center, La Jolla (B.G., E.A.); University of Colorado Anschutz Medical Campus, Aurora (M.T.); Boston's Children's Hospital, Harvard Medical School, Boston (S.C.); Rocket Pharmaceuticals, Cranbury, NJ (D.R., P.Y., P.B., G.S., K.P., M.C., S.C.-K., J.D.S.); and Children's Hospital of Philadelphia and Perelman School of Medicine, University of Pennsylvania (J.W.R.) - both in Philadelphia.
Background: Danon disease is a rare, X-linked, monogenic cardiomyopathy caused by mutations in the lysosomal-associated membrane 2 gene (), which encodes the LAMP2 protein. In male patients, the predominant phenotype is progressive cardiac hypertrophy, cardiac dysfunction, and early death. There are no directed therapies for the disease.
View Article and Find Full Text PDFKidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature.
Glomerular Dis
September 2024
Department of Pediatrics Nephrology, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA, USA.
Thrombotic microangiopathy (TMA) is a recognized sequela of inborn errors of metabolism impacting vitamin B12 (cobalamin) synthesis. Methylmalonic aciduria and homocystinuria, cobalamin deficiency type C is a well-known etiology for TMA. TMA has only rarely previously been reported in methionine synthase (cobalamin G) deficiency.
View Article and Find Full Text PDFWhole blood viscosity and its association with the presence and severity of hearing loss and other microangiopathies in Indian patients with type 2 diabetes mellitus.
Porto Biomed J
October 2024
Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.
Article Synopsis
- A study was conducted to examine the link between whole blood viscosity (WBV) and sensorineural hearing loss (SNHL) in Indian patients with type 2 diabetes mellitus (T2DM), as diabetes may alter blood viscosity.
- Among 60 participants, a significant 73.3% had SNHL, primarily moderate and bilateral, with results showing a clear correlation between poorer glycemic control and increased severity of SNHL.
- However, the study found no significant relationship between WBV and SNHL, microangiopathies (like retinopathy and neuropathy), or glycemic control indicators, suggesting that while SNHL is common in diabetics, blood viscosity might not play a crucial role in its development.
Background: Stroke and traumatic intracranial hemorrhage (tICH) are major causes of disability worldwide, with stroke exerting significant negative effects on the brain, potentially elevating tICH risk. In this study, we investigated tICH risk in stroke survivors.
Methods And Results: Using relevant data (2017-2019) from Taiwan's National Health Insurance Research Database, we conducted a population-based retrospective cohort study.
Main features of ischemic stroke in patients with acute immune-mediated thrombotic thrombocytopenic purpura.
Thromb Res
November 2024
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Università degli Studi di Milano, Department of Pathophysiology and Transplantation, Milan, Italy. Electronic address:
Background: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a microangiopathy often characterized by acute neurological involvement including ischemic stroke (IS). The characteristics of IS in iTTP remain largely unknown.
Aims: To evaluate the epidemiology, neuroimaging patterns and risk factors of IS in iTTP patients.
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