Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile

Vallim, Julia Ribeiro da Silva; Amaral, Fernanda Gaspar do; Cipolla‐Neto, José; D’Almeida, Vânia

doi:10.1080/07420528.2018.1560308

Cited by 6 publications

(11 citation statements)

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“…Metabolic disorders such as gestational diabetes and obesity have been correlated with changes in the circadian rhythm [52]. Neurologic disorders, such as traumatic brain injury, coma, and hypnic headaches have also been correlated with rhythm disruption [58][59][60]. The mechanisms for the disruption of melatonin rhythms with these disorders are unclear; further research is required to further elucidate the relationship between diseases and their effect on circadian timing and rhythms.…”

Section: Discussionmentioning

confidence: 99%

Circadian Rhythm Dysregulation and Restoration: The Role of Melatonin

McBride²,

2021

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Sleep is an essential component of overall human health but is so tightly regulated that when disrupted can cause or worsen certain ailments. An important part of this process is the presence of the well-known hormone, melatonin. This compound assists in the governing of sleep and circadian rhythms. Previous studies have postulated that dysregulation of melatonin rhythms is the driving force behind sleep and circadian disorders. A computer-aided search spanning the years of 2015–2020 using the search terms melatonin, circadian rhythm, disorder yielded 52 full text articles that were analyzed. We explored the mechanisms behind melatonin dysregulation and how it affects various disorders. Additionally, we examined associated therapeutic treatments including bright light therapy (BLT) and exogenous forms of melatonin. We found that over the past 5 years, melatonin has not been widely investigated in clinical studies thus there remains large gaps in its potential utilization as a therapy.

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Section: Discussionmentioning

confidence: 99%

Circadian Rhythm Dysregulation and Restoration: The Role of Melatonin

McBride²,

2021

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“…Using the Pittsburgh Sleep Quality Index (PSQI) questionnaire ( 16 , 23 , 26 ), sleep quality over the previous month was measured and assessed through patient responses. Poor sleep quality was diagnosed in 42 out of 72 subjects (58.3%) included in these studies.…”

Section: Resultsmentioning

confidence: 99%

“…Talbot et al, using polysomnography, diagnosed periodic limb movement in sleep in 19 male subjects out of a total of 20 participants (95%) ( 19 ). Furthermore, actigraphy was performed, detecting sleep parameters including time in bed (TIB), total sleep time, sleep efficiency, and the awakening index in Vallim et al ( 26 ). However, no significant differences in these parameters were observed between FD patients and the healthy population.…”

Section: Resultsmentioning

confidence: 99%

“…Therefore, these data remain inconclusive; while FD variants might provide an answer, only three articles ( 16 , 19 , 23 ) addressed this aspect. Unfortunately, some articles lacked a detailed diagnosis of sleep disturbances ( 16 , 23 , 26 ), and some of them presented inaccurate results, offering mean scores for EDS diagnosis instead of specifying the exact number of affected patients ( 17 , 22 ). Notably, excessive daytime sleepiness (EDS) emerged as the most frequently reported complaint in the included studies, and it featured in six out of the nine studies.…”

Section: Discussionmentioning

confidence: 99%

“…The causes of EDS in the general population include factors such as sleep deprivation, circadian rhythm disorders, depression, nervous system abnormalities, obesity, narcolepsy, or sleep apnea ( 31 ). Notably, a study measuring body temperature and melatonin metabolite excretion revealed changes in the circadian rhythm of FD patients ( 26 , 32 ). Furthermore, within this cohort, EDS was found to be more frequently associated with depression rather than with sleep-disordered breathing (especially with obstructive sleep apnea ( 20 ).…”

Section: Discussionmentioning

confidence: 99%

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Fabry disease and sleep disorders: a systematic review

Blaszczyk,

Wieckiewicz,

Kusztal

et al. 2023

Front. Neurol.

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BackgroundFabry disease (FD) is an X-chromosome-linked disorder characterized by a reduced or complete absence of the enzyme α-galactosidase, resulting in the accumulation of lysosomal globotriaosylceramide. Despite the presence of these deposits in multiple organs, the problem of sleep disorders within this population has very rarely been documented.ObjectiveThis study aimed to investigate the types and prevalence of sleep disorders among patients with FD.MethodsScreening of the following medical databases using key terms was performed on 10 February 2023: PubMed, Scopus, and Embase. A total of 136 records were identified. The quality assessment of the studies was conducted by using tools from the National Institutes of Health (NIH) and critical appraisal tools from the Joanna Briggs Institute (JBI).ResultsThe study included nine studies on sleep disorders in patients with FD. The overall quality of the majority of these studies was assessed as either poor or fair. Among 330 patients, there was a slightly higher representation of female patients (56%). Sleep problems manifested 4–5 years after the onset of FD and sometimes even after 10–11 years. Genotypes of disease associated with sleep problems were rarely described. Within the FD population, the most commonly reported conditions were excessive daytime sleepiness (EDS) as well as obstructive and central sleep apnea (OSA, CSA). However, EDS occurred more frequently in FD patients, while the prevalence of OSA and CSA was within the ranges observed in the general population. The studies included indicated a lack of association between organ impairment by primary disease and EDS and OSA. The effectiveness of enzyme replacement therapy (ERT) in treating sleep disorders was not demonstrated.ConclusionThe findings of this report revealed the presence of many sleep-related disorders within the FD population. However, very few studies on this subject are available, and their limited results make it difficult to truly assess the real extent of the prevalence of sleep disturbances among these individuals. There is a need to conduct further studies on this topic, involving a larger group of patients. It is important to note that there are no guidelines available for the treatment of sleep disorders in patients with FD.

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Melatonin and healthy aging

Cardinali

2021

Vitamins and Hormones

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Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile

Cited by 6 publications

References 60 publications

Circadian Rhythm Dysregulation and Restoration: The Role of Melatonin

Circadian Rhythm Dysregulation and Restoration: The Role of Melatonin

Fabry disease and sleep disorders: a systematic review

Melatonin and healthy aging

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