A5030175760- Amyloidosis: Diagnosis, Treatment, Outcomes
- Chronic Myeloid Leukemia Treatments
- Protein Kinase Regulation and GTPase Signaling
- Peripheral Nerve Disorders
- Cancer Treatment and Pharmacology
- Peptidase Inhibition and Analysis
- Eosinophilic Disorders and Syndromes
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Health Sciences Research and Education
- Ophthalmology and Eye Disorders
- Parathyroid Disorders and Treatments
- Endoplasmic Reticulum Stress and Disease
- Ion channel regulation and function
- Glaucoma and retinal disorders
- Systemic Sclerosis and Related Diseases
- Orthopedic Surgery and Rehabilitation
- Renal Diseases and Glomerulopathies
- Clinical practice guidelines implementation
- Cellular transport and secretion
- Caveolin-1 and cellular processes
- RNA regulation and disease
- Vascular Procedures and Complications
- Peripheral Neuropathies and Disorders
- Urinary Tract Infections Management
Hinge Health
2020
New York University
2019-2020
Boston University
2003-2019
NYU Langone Health
2019
Boston Medical Center
2003-2017
Amyloidosis Foundation
2005-2013
University Medical Center
2003-2008
<h3>Importance</h3> Familial amyloid polyneuropathy, a lethal genetic disease caused by aggregation of variant transthyretin, induces progressive peripheral nerve deficits and disability. Diflunisal, nonsteroidal anti-inflammatory agent, stabilizes transthyretin tetramers prevents fibril formation in vitro. <h3>Objective</h3> To determine the effect diflunisal on polyneuropathy progression patients with familial polyneuropathy. <h3>Design, Setting, Participants</h3> International randomized,...
AL amyloidosis is a fatal disease resulting from tissue deposition of amyloid fibrils derived monoclonal immunoglobulin light chains. Treatment with oral chemotherapy minimally effective.To test survival and organ response in large sample patients treated high-dose intravenous melphalan (100 to 200 mg/m2) autologous blood stem-cell transplantation.8-year longitudinal analysis clinical effectiveness.University-affiliated specialty referral clinic.701 consecutive new amyloidosis.High-dose...
Importance There is a lack of long-term efficacy and safety data on hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) RNA interference (RNAi) therapeutics in general. This study presents the longest-term to date patisiran for hATTR-PN. Objective To present adults Design, Setting, Participants global open-label extension (OLE) APOLLO randomized clinical trial phase 2 OLE enrolled patients from 43 hospitals or centers across 19 countries between July 2015 August 2017,...
Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial.We assessed: (1) Proficiency grading neurologic correlation with tests, (2) clinometric performance modified NIS+7 (mNIS+7Ionis ) its subscores disability scores.The mNIS+7Ionis sensitively detected, characterized, broadly scaled diverse...
Hereditary transthyretin-mediated amyloidosis (hATTR) manifests as multisystem dysfunction, including progressive polyneuropathy. Inotersen, an antisense oligonucleotide, improved the course of neuropathic impairment in patients with hATTR pivotal NEURO-TTR study (NCT01737398). To determine inotersen's impact on symptoms and patients' neuropathy experience, we performed a post hoc analysis Neuropathy Symptoms Change (NSC) score.Stage 1 or 2 were randomized to receive weekly subcutaneous...
Treatment with high-dose melphalan chemotherapy supported by hematopoietic rescue autologous stem cells produces high rates of hematologic responses and improvement in survival organ function for patients AL amyloidosis. Ongoing clinical trials explore pre-transplant induction regimens, post-transplant consolidation or maintenance approaches, compare transplant to non-transplant regimens. To put these studies into context, we reviewed our recent experience amyloidosis the Amyloid Research...
Inotersen, an antisense oligonucleotide inhibitor of transthyretin (TTR) protein production, demonstrated significant benefit versus placebo in the modified Neuropathy Impairment Score (NIS) +7 neurophysiologic tests (mNIS+7) patients with hereditary TTR-mediated amyloidosis (hATTR) polyneuropathy. This analysis assessed mNIS+7 components by anatomic location and lower limb function (LLF) test.Adults hATTR NEURO-TTR trial (NCT01737398) were randomly assigned to receive weekly doses...
A patient with primary (AL) systemic amyloidosis developed mononeuropathy multiplex complicated by diaphragmatic failure. High dose melphalan and autologous stem cell transplantation did not ameliorate neuropathy or diaphragm dysfunction. Nocturnal non-invasive ventilation lowered arterial carbon dioxide levels improved daytime dyspnea. This is the first case associating AL amyloid-induced
Case presentation.A 51-year-old right-handed woman was admitted to the hospital because of two syncopal episodes.Both events had similar features with sudden onset loss consciousness.There were no preceding symptoms.They lasted only few seconds and not accompanied by any abnormal movements, incontinence, or tongue biting.There confusion following events.A feeling vertigo, which gradually dissipated over 2 days, residual symptom both episodes.The patient also a history hypertension.She on...
Overactive bladder is a syndrome that includes urinary urgency and frequency, nocturia, occasional incontinence. It affects about 15% of the
May 7, 2019April 9, 2019Free AccessResponsiveness of Neuropathy Symptom and Change (NSC) Score Components in Inotersen Treatment Hereditary Transthyretin Amyloidosis Polyneuropathy (P3.9-060)P. James B. Dyck, MD, Teresa Coelho, Marcia Waddington Cruz, PhD, Thomas Brannagan, Sami Khella, Chafic Karam, John L. Berk, … Show All , Michael J. Polydefkis, C. Kincaid, Janice F. Wiesman, William Litchy, Michelle Mauermann, Elizabeth Ackermann, Brenda Baker, Shiangtung W. Jung, Spencer Guthrie,...
Tuesday, April 28April 14, 2020Free AccessProviding an easily accessible online resource for physician wellness advocates (2358)Crystal Jing Yeo, Heidi Schwarz, Cormac O’Donovan, Neil Busis, Anindita Deb, Janice Wiesman, Suzanne Powell, and Jennifer MolanoAuthors Info & AffiliationsApril 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.2358 Letters to the Editor