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Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.
Neuromuscul Disord
November 2024
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA02114, United States. Electronic address:
We aimed at investigating the presence of patterns that account for the phenotypic variability in a myotonic dystrophy type 2 (DM2) retrospective cohort at the Mass General Brigham Neuromuscular Centers. We collected the presence or absence of 23 clinical variables at symptom onset and diagnosis (n = 67 patients) and follow-up (n = 37 patients). We first identified set/s of variables (factors or cluster/s) representative of the large research data pool at onset by performing factor analyses, then assigned each patient to the cluster for which they had the highest computed total factor score.
View Article and Find Full Text PDFParent-of-Origin Effect on the Age at Symptom Onset in Myotonic Dystrophy Type 2.
Neurol Genet
June 2023
Department of Neurology (P.G.-P., V.P.-M., K.C., W.S.D.), Massachusetts General Hospital, Harvard Medical School, Boston, MA; Department of Neurology (E.S.D.A.), Nationwide Children's Hospital, Columbus, OH; and Department of Neurology (V.P.-M., A.A.A.), Brigham Women's Hospital, Harvard Medical School, Boston, MA.
Background And Objectives: The existence of clinical anticipation, congenital form, and parent-of-origin effect in myotonic dystrophy type 2 (DM2) remains uncertain. Here, we aimed at investigating whether there is a parent-of-origin effect on the age at the first DM2-related clinical manifestation.
Methods: We identified patients with genetically confirmed DM2 with known parental inheritance from (1) the electronic medical records of our institutions and (2) a systematic review of the literature following the PRISMA 2020 guidelines and recorded their age at and type of first disease-related symptom.
Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study.
Muscle Nerve
August 2023
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Introduction/aims: Myotonic dystrophies (DMs) are autosomal dominant diseases in which expression of a mutant expanded repeat mRNA leads to abnormal splicing of downstream effector genes thought to be responsible for their multisystem involvement. Cancer risk and cancer-related deaths are increased in DM patients relative to the general population. We aimed at determining the frequency and type of cancers in both DM1 and DM2 vs a non-DM muscular dystrophy cohort.
View Article and Find Full Text PDFLongitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
Muscle Nerve
August 2022
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Introduction/aims: Nephropathic cystinosis is a lysosomal storage disorder with known myopathic features, including dysphagia. Evaluation of oropharyngeal swallowing physiology can be standardized using the Modified Barium Swallow Impairment Profile (MBSImP), a validated assessment tool used to analyze and rate swallowing across 17 distinct physiologic domains. Our objective was to better characterize swallowing impairments in nephropathic cystinosis using MBSImP analysis.
View Article and Find Full Text PDFOral and Topical Treatment of Painful Diabetic Polyneuropathy: Practice Guideline Update Summary: Report of the AAN Guideline Subcommittee.
Neurology
January 2022
From the Department of Neurology (R.P.), University of Pennsylvania, Philadelphia; Department of Neurology (D.S.), University of Colorado, Aurora; Department of Neurology (G.F.), University of Washington, Seattle; Department of Neurology (G.G.), University of Kansas Medical Center, Kansas City; Department of Internal Medicine (M.P.), The University of Texas at Austin Dell Medical School; Department of Neurology (W.S.D.), Massachusetts General Hospital, Boston; Department of Neurology (C.A.), Tel Aviv University Sackler School of Medicine and Shamir (Assaf Harofeh) Medical Center, Israel; Leadership Sinai Centre for Diabetes (B.A.P.), Sinai Health System, University of Toronto; Division of Neurology (V.B.), Department of Medicine, Toronto General Hospital, Canada; Professor Emeritus (A.R.-G.), Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, OH; Department of Neurosciences (J.H.), Overlook Medical Center, Summit, NJ; New West Physicians (N.L.), Golden, CO; American Academy of Neurology (M.D.O., S.R.W.), Minneapolis, MN; Neuropathy Action Foundation (L.C.M.), Santa Ana, CA; Kamehameha Schools (K.F.), Honolulu, HI; University of Texas Rio Grande Valley School of Podiatric Medicine (L.B.H.), Edinburg; The Foundation for Peripheral Neuropathy (L.C.), Buffalo Grove, IL; and Department of Neurology (B.C.C.), University of Michigan, Ann Arbor.
Article Synopsis
- The objective of the study was to update the 2011 AAN guideline on treating painful diabetic neuropathy (PDN), focusing on both topical and oral medications.
- The authors conducted a systematic review of literature from January 2008 to April 2020 to develop new practice recommendations.
- The results highlighted that TCAs showed a large effect size for pain relief, while SNRIs and gabapentinoids also demonstrated significant effectiveness, but opioids are not recommended for treating PDN.
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