Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study
Conclusions
This study identified specific rare variants in the DCBLD2 gene as a putative genetic risk factor for RP. These findings should be validated in additional patients with RP and supported by future functional experiments. (Source: Annals of the Rheumatic Diseases)
Source: Annals of the Rheumatic Diseases - January 11, 2024 Category: Rheumatology Authors: Luo, Y., Ferrada, M. A., Sikora, K. A., Rankin, C., Alessi, H. D., Kastner, D. L., Deng, Z., Zhang, M., Merkel, P. A., Kraus, V. B., Allen, A. S., Grayson, P. C. Tags: ARD, Miscellaneous Source Type: research
De-Epithelialized Viable Tracheal Allotransplantation Without Immunosuppressants: 5-Year Follow-Up
CONCLUSION: The present study demonstrates that transplantation of the de-epithelialized viable tracheal allograft without immunosuppressants is safe and promising for patients with long laryngotracheal stenosis or defects, especially for those with malignant tumor resections.PMID:38197389 | DOI:10.1177/00034894231221900 (Source: The Annals of Otology, Rhinology, and Laryngology)
Source: The Annals of Otology, Rhinology, and Laryngology - January 10, 2024 Category: ENT & OMF Authors: Pengcheng Cui Daqing Zhao Leping Liang Pengfei Liu Shuqin Li Source Type: research
Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis
Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 2, 2024 Category: Internal Medicine Authors: Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang and Yuming Xu Tags: Research Source Type: research
Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review
ConclusionVEXAS syndrome is a rare disorder affecting predominantly middle-aged men. This is the first systematic review to capture clinical manifestations, genetics and treatment of reported cases. Further studies are needed to optimise treatment and subsequently reduce morbidity and mortality. (Source: Rheumatology International)
Source: Rheumatology International - December 21, 2023 Category: Rheumatology Source Type: research
Bilateral Deafness Due to Relapsing Polychondritis with Semicircular Canal Calcification Treated With Cochlear Implantation: A Case Report
This report describes a 68-year-old woman who developed binaural hearing loss due to RP. She was treated with steroids and immunosuppressive drugs; however, her hearing did not improve significantly, and she relied on written communication for conversation. Subsequently, the patient underwent CI in the right ear. The patient showed improvement in speech perception; at 14 months postoperatively, she was able to speak with lipreading, and at 2 years postoperatively, she was able to speak without lipreading. Previous case reports on CI in patients with RP have shown varying degrees of postoperative hearing improvement. Our ca...
Source: Ear, Nose and Throat Journal - November 30, 2023 Category: ENT & OMF Authors: Kenichiro Arashi Takanori Nishiyama Makoto Hosoya Nobuyoshi Tsuzuki Takeshi Wakabayashi Hiroyuki Ozawa Naoki Oishi Source Type: research
Bilateral Deafness Due to Relapsing Polychondritis with Semicircular Canal Calcification Treated With Cochlear Implantation: A Case Report
This report describes a 68-year-old woman who developed binaural hearing loss due to RP. She was treated with steroids and immunosuppressive drugs; however, her hearing did not improve significantly, and she relied on written communication for conversation. Subsequently, the patient underwent CI in the right ear. The patient showed improvement in speech perception; at 14 months postoperatively, she was able to speak with lipreading, and at 2 years postoperatively, she was able to speak without lipreading. Previous case reports on CI in patients with RP have shown varying degrees of postoperative hearing improvement. Our ca...
Source: Ear, Nose and Throat Journal - November 30, 2023 Category: ENT & OMF Authors: Kenichiro Arashi Takanori Nishiyama Makoto Hosoya Nobuyoshi Tsuzuki Takeshi Wakabayashi Hiroyuki Ozawa Naoki Oishi Source Type: research
Bilateral Deafness Due to Relapsing Polychondritis with Semicircular Canal Calcification Treated With Cochlear Implantation: A Case Report
This report describes a 68-year-old woman who developed binaural hearing loss due to RP. She was treated with steroids and immunosuppressive drugs; however, her hearing did not improve significantly, and she relied on written communication for conversation. Subsequently, the patient underwent CI in the right ear. The patient showed improvement in speech perception; at 14 months postoperatively, she was able to speak with lipreading, and at 2 years postoperatively, she was able to speak without lipreading. Previous case reports on CI in patients with RP have shown varying degrees of postoperative hearing improvement. Our ca...
Source: Ear, Nose and Throat Journal - November 30, 2023 Category: ENT & OMF Authors: Kenichiro Arashi Takanori Nishiyama Makoto Hosoya Nobuyoshi Tsuzuki Takeshi Wakabayashi Hiroyuki Ozawa Naoki Oishi Source Type: research
Bilateral Deafness Due to Relapsing Polychondritis with Semicircular Canal Calcification Treated With Cochlear Implantation: A Case Report
This report describes a 68-year-old woman who developed binaural hearing loss due to RP. She was treated with steroids and immunosuppressive drugs; however, her hearing did not improve significantly, and she relied on written communication for conversation. Subsequently, the patient underwent CI in the right ear. The patient showed improvement in speech perception; at 14 months postoperatively, she was able to speak with lipreading, and at 2 years postoperatively, she was able to speak without lipreading. Previous case reports on CI in patients with RP have shown varying degrees of postoperative hearing improvement. Our ca...
Source: Ear, Nose and Throat Journal - November 30, 2023 Category: ENT & OMF Authors: Kenichiro Arashi Takanori Nishiyama Makoto Hosoya Nobuyoshi Tsuzuki Takeshi Wakabayashi Hiroyuki Ozawa Naoki Oishi Source Type: research
Relapsing polychondritis
Z Rheumatol. 2023 Nov 27. doi: 10.1007/s00393-023-01451-1. Online ahead of print.ABSTRACTRelapsing polychondritis (RP) is a rare multisystemic disease predominantly involving the extracellular matrix. Typical manifestations are chondritis of the ears, nose and trachea as well as an asymmetrical oligoarthritis or polyarthritis of small and also larger joints. Various other involvements have also been described. The treatment of RP is individually dependent on a variety of factors, e.g., organ manifestations. Glucocorticoids, immunosuppressants and targeted treatment are implemented. In the case of seronegative rheumatoid ar...
Source: Zeitschrift fur Rheumatologie - November 27, 2023 Category: Rheumatology Authors: Benjamin Makus Thomas Rose Source Type: research
Relapsing polychondritis
Z Rheumatol. 2023 Nov 27. doi: 10.1007/s00393-023-01451-1. Online ahead of print.ABSTRACTRelapsing polychondritis (RP) is a rare multisystemic disease predominantly involving the extracellular matrix. Typical manifestations are chondritis of the ears, nose and trachea as well as an asymmetrical oligoarthritis or polyarthritis of small and also larger joints. Various other involvements have also been described. The treatment of RP is individually dependent on a variety of factors, e.g., organ manifestations. Glucocorticoids, immunosuppressants and targeted treatment are implemented. In the case of seronegative rheumatoid ar...
Source: Zeitschrift fur Rheumatologie - November 27, 2023 Category: Rheumatology Authors: Benjamin Makus Thomas Rose Source Type: research
Relapsing polychondritis
Z Rheumatol. 2023 Nov 27. doi: 10.1007/s00393-023-01451-1. Online ahead of print.ABSTRACTRelapsing polychondritis (RP) is a rare multisystemic disease predominantly involving the extracellular matrix. Typical manifestations are chondritis of the ears, nose and trachea as well as an asymmetrical oligoarthritis or polyarthritis of small and also larger joints. Various other involvements have also been described. The treatment of RP is individually dependent on a variety of factors, e.g., organ manifestations. Glucocorticoids, immunosuppressants and targeted treatment are implemented. In the case of seronegative rheumatoid ar...
Source: Zeitschrift fur Rheumatologie - November 27, 2023 Category: Rheumatology Authors: Benjamin Makus Thomas Rose Source Type: research
Doctor & Patient: A Study in Relapsing Polychondritis
SAN DIEGO—Marcela Ferrada, MD, who most recently was on faculty with the National Institutes of Health (NIH), Bethesda, Md., discussed relapsing polychondritis (RP), a condition that she herself has. (Source: The Rheumatologist)
Source: The Rheumatologist - November 15, 2023 Category: Rheumatology Authors: Jason Liebowitz, MD Tags: ACR Convergence Conditions Meeting Reports Other Rheumatic Conditions ACR Convergence 2023 Source Type: research
Relapsing polychondritis-associated meningoencephalitis initially presenting as seizure: a case report and literature review
ConclusionRP-associated meningoencephalitis is rare but fatal. Although symptoms vary, red or deformed ears remain the most common and suggestive features. Non-specific parenchymal changes and/or meningeal enhancement can be observed on brain MRI scans. CSF lymphocytic pleocytosis with mild protein elevation was observed in most patients. (Source: Frontiers in Neurology)
Source: Frontiers in Neurology - November 14, 2023 Category: Neurology Source Type: research
Imaging features and clinical value of 18F-FDG PET/CT for predicting airway involvement in patients with relapsing polychondritis
This study ai... (Source: Arthritis Research and Therapy)
Source: Arthritis Research and Therapy - October 14, 2023 Category: Rheumatology Authors: Jing-Wei Yi, Jun-Feng Huang, Peng Hou, Zi-Kai Lin, Jin-Sheng Lin, Si-Yan Lin, Min Wang, Shi-Yue Li and Xin-Lu Wang Tags: Research Source Type: research
Correction to: Bibliometric analysis of the global publication activity in the field of relapsing polychondritis during 1960 –2023
(Source: Clinical Rheumatology)
Source: Clinical Rheumatology - October 9, 2023 Category: Rheumatology Source Type: research
