A case of synovial chondromatosis of the knee with 87 free bodies and review of literature
CONCLUSIONS: The patient had several synovial chondromas, a rare disease. Synovial chondromatosis is a benign disorder; however, growing synovium can cause pyogenic cartilage nodules. Most loose bodies in joints can abrade and degenerate articular cartilage, causing long-term discomfort. Thus, an early-stage procedure to remove loose bodies and carefully excise synovial tissue is necessary to treat this condition.PMID:38639506 | DOI:10.26355/eurrev_202404_35895 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - April 19, 2024 Category: Drugs & Pharmacology Authors: P-P Qi Z-W Xu Source Type: research
A case of synovial chondromatosis of the knee with 87 free bodies and review of literature
CONCLUSIONS: The patient had several synovial chondromas, a rare disease. Synovial chondromatosis is a benign disorder; however, growing synovium can cause pyogenic cartilage nodules. Most loose bodies in joints can abrade and degenerate articular cartilage, causing long-term discomfort. Thus, an early-stage procedure to remove loose bodies and carefully excise synovial tissue is necessary to treat this condition.PMID:38639506 | DOI:10.26355/eurrev_202404_35895 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - April 19, 2024 Category: Drugs & Pharmacology Authors: P-P Qi Z-W Xu Source Type: research
Effect of Family Centered Pediatric Advance Care Planning for Children with Rare Diseases on Meaning/Peace (CO101B)
1. Know how advance care planning with families of children with rare diseases can improve family caregiver outcomes.2. Understand the impact of race and social determinants of health on family caregiver appraisal of their caregiving and the impact of poverty on family well-being, caregiver distre ss, and anxiety. (Source: Journal of Pain and Symptom Management)
Source: Journal of Pain and Symptom Management - April 19, 2024 Category: Palliative Care Authors: Maureen E. Lyon Source Type: research
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort
Conclusion
This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Yan, X., Wang, J., Yang, W., Li, L., Shen, T., Geng, J., Zhang, Q., Zhong, M., Xiong, W., Bu, F., Lu, Y., Zhao, Y., Cheng, J., Yuan, H. Tags: Open access Diagnostics Source Type: research
NR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death
Clinical studies on progressive familial intrahepatic cholestasis (PFIC) type 5 caused by mutations in NR1H4 are limited. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Zhong-Die Li, Yu-Chuan Li, Jing-Zhao, Jian-She Wang and Xin-Bao Xie Tags: Research Source Type: research
Elevated serum B-cell activator factor levels predict rapid progressive interstitial lung disease in anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis
Rapid progressive interstitial lung disease (RP-ILD) is the leading cause of anti-melanoma differentiation associated protein 5 antibody positive dermatomyositis (anti-MDA5+DM) related death. Elevated serum B-cel... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 19, 2024 Category: Internal Medicine Authors: Yumeng Shi, Hanxiao You, Chang Liu, Yulu Qiu, Chengyin Lv, Yujing Zhu, Lingxiao Xu, Fang Wang, Miaojia Zhang and Wenfeng Tan Tags: Research Source Type: research
Patient preferences in genetic newborn screening for rare diseases: study protocol
This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent’s perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany.
Methods and analysis
A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) ‘healthy’ expecting pare...
Source: BMJ Open - April 19, 2024 Category: General Medicine Authors: MARTIN, S., Angolini, E., Audi, J., Bertini, D. E., Bruno, L. P., Coulter, J., Ferlini, A., Fortunato, F., Frankova, V., Garnier, N., Grauman, A., Gross, E., Hauber, B., Hansson, M., Kirschner, J., Knieling, F., Kyosovksa, G., Ottombrino, S., Novelli, A., Tags: Open access, Genetics and genomics Source Type: research
