Gradually Transformed: Parry–Romberg Syndrome

Matute, Carlos; Matute, Felipe Jose; Cardona, Daniel; Federman, Daniel G.

doi:10.1016/j.amjmed.2018.02.020

Cited by 3 publications

(1 citation statement)

References 7 publications

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“…Escaping circadian regulation is believed to be an emerging hallmark of cancer and tightly associates with patient survival (12, 13). Strong epidemiological evidence links circadian disruption with cancers (14, 15), and enhancing core circadian gene expression will induce the death of cancer cells (16).…”

Section: Introductionmentioning

confidence: 99%

Pan-Cancer Analysis Reveals Disrupted Circadian Clock Associates With T Cell Exhaustion

Tao

Zhang

et al. 2019

Front. Immunol.

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Although dysfunctional circadian clock has emerged as a hallmark of cancer, fundamental gaps remain in our understanding of the underlying mechanisms involved. Here, we systematically analyze the core genes of the circadian clock (CLOCK, ARNTL, ARNTL2, NPAS2, NR1D1, NR1D2, CRY1, CRY2, RORA, RORB, RORC, PER1, PER2, and PER3) across a broad range of cancers. To our surprise, core negative regulators (PER1, PER2, PER3, CRY1, and CRY2) are consistently downregulated, while core positive regulators show minimal alterations, indicating disrupted circadian clock in cancers. Such downregulation originates from copy number variations where heterozygous deletion predominates. The disrupted circadian clock is significantly associated with patient outcome. Further pathway enrichment analysis suggests that the circadian clock widely impacts 45 pathways such as the Ras signaling pathway and T cell receptor signaling pathway. By using state-of-the-art immune cell deconvolution and pathway quantification, we demonstrate that abnormal circadian clock contributes to T cell exhaustion and global upregulation of immune inhibitory molecules such as PD-L1 and CTLA-4. In summary, the rhythm of the circadian clock is disrupted in cancers. Abnormal circadian clock linked with immune evasion may serve as a potential hallmark of cancer.

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Section: Introductionmentioning

confidence: 99%

Pan-Cancer Analysis Reveals Disrupted Circadian Clock Associates With T Cell Exhaustion

Tao

Zhang

et al. 2019

Front. Immunol.

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Headache in progressive facial hemiatrophy (Parry-Romberg syndrome): A paradigmatic case and systematic review of the literature

et al. 2021

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Background Parry-Romberg syndrome is a neuro-cutaneous disease characterized by progressive hemifacial atrophy. Although common, headache in this population is scarcely reported in the literature. Objective To evaluate the clinical features of headache in pediatric and adult patients with Parry-Romberg syndrome, and to discuss diagnostic and treatment approaches of headache in Parry-Romberg syndrome. Methods We conducted a systematic review in accordance with PRISMA guidelines. We searched the MEDLINE database to identify eligible studies and identified patients with Parry-Romberg syndrome and headache. We further reported a paradigmatic case with a complex headache disorder and described its management and outcome. Results We identified 74 articles, 41 of which were included in the analysis. A total of 52 patients (55.8% female) were included for data analysis. The main age at onset of headache was 20 years (SD 15.2; range 3–56). A diagnosis of migraine was made in 53.9%. Abnormal brain imaging was found in 82.2% of patients. Conclusion Long-term follow-up of patients is required, because headache may develop (and evolve) at any time over the course of the disease. Primary and secondary headaches often co-occur in patients with Parry-Romberg syndrome. Further research into the underlying etiopathogenesis and therapeutic targets would be recommended.

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