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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
RESULTS: All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation treatments. Long-term outcomes varied from death to severe neurologic deficits to normal outcomes. ...
RESULTS: All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation tr …
An innovative phase 2 proof-of-concept trial design to evaluate SAR445088, a monoclonal antibody targeting complement C1s in chronic inflammatory demyelinating polyneuropathy.
Querol L, Lewis RA, Hartung HP, Van Doorn PA, Wallstroem E, Luo X, Alonso-Alonso M, Atassi N, Hughes RAC. Querol L, et al. Among authors: lewis ra. J Peripher Nerv Syst. 2023 Jun;28(2):276-285. doi: 10.1111/jns.12551. Epub 2023 May 31. J Peripher Nerv Syst. 2023. PMID: 37119056 Clinical Trial.
Secondary endpoints include safety, tolerability, immunogenicity, and efficacy of SAR445088 during 12-week overlapping period (SOC-Treated). Part B evaluates long-term safety and durability of efficacy. Data analysis will be performed using Bayesian statistics (predefined …
Secondary endpoints include safety, tolerability, immunogenicity, and efficacy of SAR445088 during 12-week overlapping period (SOC-Treated). …
Tips in navigating the diagnostic complexities of chronic inflammatory demyelinating polyradiculoneuropathy.
Lewis RA, van Doorn PA, Sommer C. Lewis RA, et al. J Neurol Sci. 2022 Dec 15;443:120478. doi: 10.1016/j.jns.2022.120478. Epub 2022 Oct 27. J Neurol Sci. 2022. PMID: 36368137 Free article. Review.
In the revised guideline, the CIDP spectrum has been modified to include typical CIDP and four well-characterized CIDP variants, namely distal, multifocal/focal, motor and sensory CIDP, replacing the term 'atypical' CIDP. To improve the diagnosis of CIDP, the revised guide …
In the revised guideline, the CIDP spectrum has been modified to include typical CIDP and four well-characterized CIDP variants, namely dist …
Diagnosis of chronic inflammatory demyelinating polyneuropathy.
Allen JA, Lewis RA. Allen JA, et al. Among authors: lewis ra. Muscle Nerve. 2022 Nov;66(5):545-551. doi: 10.1002/mus.27708. Epub 2022 Sep 6. Muscle Nerve. 2022. PMID: 36259623
Interpretation of how patients respond to treatment drives both long-term treatment paradigms and the diagnosis at which these treatments are aimed. ...
Interpretation of how patients respond to treatment drives both long-term treatment paradigms and the diagnosis at which these treatm …
Treatment of chronic inflammatory demyelinating polyneuropathy.
Allen JA, Lewis RA. Allen JA, et al. Among authors: lewis ra. Muscle Nerve. 2022 Nov;66(5):552-557. doi: 10.1002/mus.27709. Epub 2022 Sep 6. Muscle Nerve. 2022. PMID: 35994242
Second, optimization or personalization of first-line treatments is needed to understand the ideal dose for any given patient, and whether long-term treatment is needed at all. Third, although many immunosuppressive agents may be utilized in nonresponding patients or when …
Second, optimization or personalization of first-line treatments is needed to understand the ideal dose for any given patient, and whether l …
Long-term Outcomes of Adding Lutein/Zeaxanthin and omega-3 Fatty Acids to the AREDS Supplements on Age-Related Macular Degeneration Progression: AREDS2 Report 28.
Chew EY, Clemons TE, Agrón E, Domalpally A, Keenan TDL, Vitale S, Weber C, Smith DC, Christen W; AREDS2 Research Group. Chew EY, et al. JAMA Ophthalmol. 2022 Jul 1;140(7):692-698. doi: 10.1001/jamaophthalmol.2022.1640. JAMA Ophthalmol. 2022. PMID: 35653117 Free PMC article. Clinical Trial.
However, it is unknown if the increased risk of lung cancer observed in those assigned beta carotene persists beyond the conclusion of the AREDS2 trial and if there is a benefit of adding lutein/zeaxanthin to the original AREDS supplement that can be observed with long-term …
However, it is unknown if the increased risk of lung cancer observed in those assigned beta carotene persists beyond the conclusion of the A …
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.
Van den Bergh PYK, van Doorn PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, Attarian S, Blomkwist-Markens PH, Cornblath DR, Eftimov F, Goedee HS, Harbo T, Kuwabara S, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Sommer C, Topaloglu HA. Van den Bergh PYK, et al. Among authors: lewis ra. Eur J Neurol. 2021 Nov;28(11):3556-3583. doi: 10.1111/ene.14959. Epub 2021 Jul 30. Eur J Neurol. 2021. PMID: 34327760 Free article.
Typical CIDP and CIDP variants were distinguished. The previous term "atypical CIDP" was replaced by "CIDP variants" because these are well characterized entities (multifocal, focal, distal, motor, or sensory CIDP). ...
Typical CIDP and CIDP variants were distinguished. The previous term "atypical CIDP" was replaced by "CIDP variants" because these ar …
European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision.
Van den Bergh PYK, van Doorn PA, Hadden RDM, Avau B, Vankrunkelsven P, Allen JA, Attarian S, Blomkwist-Markens PH, Cornblath DR, Eftimov F, Goedee HS, Harbo T, Kuwabara S, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Sommer C, Topaloglu HA. Van den Bergh PYK, et al. Among authors: lewis ra. J Peripher Nerv Syst. 2021 Sep;26(3):242-268. doi: 10.1111/jns.12455. Epub 2021 Jul 30. J Peripher Nerv Syst. 2021. PMID: 34085743 Free article.
Typical CIDP and CIDP variants were distinguished. The previous term "atypical CIDP" was replaced by "CIDP variants" because these are well characterized entities (multifocal, focal, distal, motor, or sensory CIDP). ...
Typical CIDP and CIDP variants were distinguished. The previous term "atypical CIDP" was replaced by "CIDP variants" because these ar …
Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents.
Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML; PeDRA Use of Retinoids in Ichthyosis Work Group. Zaenglein AL, et al. Among authors: lewis ra. Pediatr Dermatol. 2021 Jan;38(1):164-180. doi: 10.1111/pde.14408. Epub 2020 Nov 10. Pediatr Dermatol. 2021. PMID: 33169909 Free PMC article.
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long-term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. ...
Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for …
Maximal Exercise Testing Using the Incremental Shuttle Walking Test Can Be Used to Risk-Stratify Patients with Pulmonary Arterial Hypertension.
Lewis RA, Billings CG, Hurdman JA, Smith IA, Austin M, Armstrong IJ, Middleton J, Rothman AMK, Harrington J, Hamilton N, Hameed AG, Thompson AAR, Charalampopoulos A, Elliot CA, Lawrie A, Sabroe I, Wild JM, Swift AJ, Condliffe R, Kiely DG. Lewis RA, et al. Ann Am Thorac Soc. 2021 Jan;18(1):34-43. doi: 10.1513/AnnalsATS.202005-423OC. Ann Am Thorac Soc. 2021. PMID: 32926635 Free PMC article.
Thresholds were incorporated into the REVEAL (Registry to Evaluate Early and Long-Term Pulmonary Arterial Hypertension Disease Management) 2.0 risk score calculator and French low-risk approach to risk stratification, and distinct categories of risk remained.Conclusions: W …
Thresholds were incorporated into the REVEAL (Registry to Evaluate Early and Long-Term Pulmonary Arterial Hypertension Disease Manage …
45 results