timing of onset
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Author(s):  
RR Liu ◽  
N Bendahan ◽  
DE Briggs ◽  
GH Jansen ◽  
S Taylor ◽  
...  

Background: Fatal Familial Insomnia (FFI) is an autosomal dominant multisystem prion disease, with sleep disorders often being the first presentation. Although autonomic dysfunctions are key features, the frequency and timing vary between reports, and may accompany early insomnia. Moreover, endocrine changes are reported, but diabetes rarely is - with unclear timing of onset in relation to the insomnia. Methods: N/A Results: Here we present a 46-year-old previously healthy male, who within 22 months prior to the onset of sleep disturbances, developed hypertension and diabetes. Then within 3-4 months after onset of sleep disturbances development tachycardia and diaphoresis. His sleep continued to deteriorate, and later developed bulbar impairment, ataxia, diplopia, sleep apnea and cognitive decline. He passed away 20 months from onset of insomnia. Polysomnography showed status dissociates and central apnea. He had positive genetic testing, PRNP c.532G>A (p.Asp178Asn) and PRNP c.385A>G (pMet129Val), a pathological confirmation, and a positive family history Conclusions: Here diabetes and hypertension significantly preceded sleep disturbances, and tachycardia and diaphoresis developed shortly after. This illustrates that dysautonomia and endocrine dysfunction may be unrecognized prodromes in some cases of FFI, and could be an early marker of clinical disease onset and therapeutic interventions, especially in genetically confirmed asymptotic patients.


PLoS Medicine ◽  
2021 ◽  
Vol 18 (9) ◽  
pp. e1003805
Author(s):  
Chen Huang ◽  
Jiong Li ◽  
Guoyou Qin ◽  
Zeyan Liew ◽  
Jing Hu ◽  
...  

Background The prevalence of cardiovascular disease (CVD) has been increasing in children, adolescents, and young adults in recent decades. Exposure to adverse intrauterine environment in fetal life may contribute to the elevated risk of early-onset CVD. Many studies have shown that maternal hypertensive disorders of pregnancy (HDP) are associated with increased risks of congenital heart disease, high blood pressure, increased BMI, and systemic vascular dysfunction in offspring. However, empirical evidence on the association between prenatal exposure to maternal HDP and early-onset CVD in childhood and adolescence remains limited. Methods and findings We conducted a population-based cohort study using Danish national health registers, including 2,491,340 individuals born in Denmark from 1977 to 2018. Follow-up started at birth and ended at the first diagnosis of CVD, emigration, death, or 31 December 2018, whichever came first. Exposure of maternal HDP was categorized as preeclampsia or eclampsia (n = 68,387), gestational hypertension (n = 18,603), and pregestational hypertension (n = 15,062). Outcome was the diagnosis of early-onset CVD from birth to young adulthood (up to 40 years old). We performed Cox proportional hazards regression to evaluate the associations and whether the association differed by maternal history of CVD or diabetes before childbirth. We further assessed the association by timing of onset and severity of preeclampsia. The median follow-up time was 18.37 years, and 51.3% of the participants were males. A total of 4,532 offspring in the exposed group (2.47 per 1,000 person-years) and 94,457 in the unexposed group (2.03 per 1,000 person-years) were diagnosed with CVD. We found that exposure to maternal HDP was associated with an increased risk of early-onset CVD (hazard ratio [HR]: 1.23; 95% CI = 1.19 to 1.26; P < 0.001). The HRs for preeclampsia or eclampsia, gestational hypertension, and pregestational hypertension were 1.22 (95% CI, 1.18 to 1.26; P < 0.001), 1.25 (95% CI, 1.17 to 1.34; P < 0.001), and 1.28 (95% CI, 1.15 to 1.42; P < 0.001), respectively. We also observed increased risks for type-specific CVDs, in particular for hypertensive disease (HR, 2.11; 95% CI, 1.96 to 2.27; P < 0.001) and myocardial infarction (HR, 1.49; 95% CI, 1.12 to 1.98; P = 0.007). Strong associations were found among offspring of mothers with CVD history (HR, 1.67; 95% CI, 1.41 to 1.98; P < 0.001) or comorbid diabetes (HR, 1.56; 95% CI, 1.34 to 1.83; P < 0.001). When considering timing of onset and severity of preeclampsia on offspring CVD, the strongest association was observed for early-onset and severe preeclampsia (HR, 1.48, 95% CI, 1.30 to 1.67; P < 0.001). Study limitations include the lack of information on certain potential confounders (including smoking, physical activity, and alcohol consumption) and limited generalizability in other countries with varying disparities in healthcare. Conclusions Offspring born to mothers with HDP, especially mothers with CVD or diabetes history, were at increased risks of overall and certain type-specific early-onset CVDs in their first decades of life. Further research is warranted to better understand the mechanisms underlying the relationship between maternal HDP and early-onset CVD in offspring.


Author(s):  
Dorothea Kesztyüs ◽  
Petra Cermak ◽  
Tibor Kesztyüs ◽  
Anne Barzel

Time-restricted eating (TRE) has rapidly gained interest in the public and the scientific community. One presumed mechanism of action is the adaptation of the eating–fasting rhythm to the evolutionary circadian rhythm of the metabolism. Study results regarding the suggestion that earlier beginning of food intake leads to better outcomes are heterogeneous. We conducted a secondary analysis of pooled data from two pilot studies on TRE to examine an association between the timing of onset of food intake with obesity-related outcomes. Participants (n = 99, 83 females aged 49.9 ± 10.8 years) were asked to restrict their daily eating to 8–9 h for three months. Tertiles of the onset of food intake were assessed for changes in anthropometry, blood lipid levels, and health-related quality of life. We detected no significant differences in outcomes between early (before 9:47), medium (9:47–10:50), and late onset (after 10:50) of food intake. However, the duration of the eating period was longest in the group with the earliest (8.6 ± 1.0 h) and shortest in the group with the latest onset (7.5 ± 0.8 h). Subsequently, fasting duration was longest in the last group (16.5 h). This may have compromised the results. More research is needed in this area to address this question.


2021 ◽  
Vol 9 ◽  
Author(s):  
Janet Elizabeth Berrington ◽  
Nicholas David Embleton

Objective: There is no gold standard test for diagnosis of necrotizing enterocolitis (NEC). Timing of onset is used in some definitions and studies in an attempt to separate NEC from focal intestinal perforation (FIP) with 14 days used as a cutoff. In a large, detailed data set we aimed to compare NEC and FIP in preterm infants born &lt;32 weeks gestation, presenting before 14 days of life in comparison to cases presenting later.Design: Infants with NEC or FIP when parents had consented to enrollment in an observational and sample collection study were included from 2009 to 2019. Clinical, surgical, histological, and outcome data were extracted and reviewed by each author independently.Patients/Episodes: In 785 infants, 174 episodes of NEC or FIP were identified of which 73 (42%) occurred before 14 days, including 54 laparotomies and 19 episodes of medically managed NEC (“early”). There were 56 laparotomies and 45 episodes of medically managed NEC presenting on or after 14 days age (“late”).Results: In early cases, 41% of laparotomies were for NEC (22 cases) and 59% for FIP (32 cases), and in late cases, 91% of laparotomies (51 cases) were for NEC and 9% (five cases) were for FIP. NEC presenting early was more likely to present with an initial septic presentation rather than discrete abdominal pathology and less likely to have clear pneumatosis. Early cases did not otherwise differ clinically, surgically, or histologically or in outcomes compared with later cases. FIP features did not differ by age at presentation.Conclusions: Although most FIP occurred early, 14% occurred later, whereas almost one third (29%) of NEC cases (surgical and medical) presented early. Infant demographics and surgical and histological findings of early- and late-presenting disease did not differ, suggesting that early and late cases are not necessarily different subtypes of the same disease although a common pathway of different pathogenesis cannot be excluded. Timing of onset does not accurately distinguish NEC from FIP, and caution should be exercised in including timing of onset in diagnostic criteria.


2021 ◽  
Vol 5 (4) ◽  
pp. 1-1
Author(s):  
Karen E. Burke ◽  
◽  
Xueyan Zhou ◽  
Yongyin Wang ◽  
Huachen Wei ◽  
...  

The supplement telomerase activator TA-65 (purified from Astragalus membranaceus) has been shown to retard cellular senescence, boost the aging immune system, and retard age-related symptoms. Lengthened telomeres retard aging, but because cancers often maintain longevity by lengthening telomeres, dietary telomerase activator might possibly increase tumorigenesis. This study investigated whether oral TA-65 effects the timing of onset and/or the incidence of skin cancers induced by UVB-irradiation and whether that possible effect is different if the oral supplementation is begun only after tumors are first detected clinically or if supplementation is begun before initiation of tumors as well as during and after the inciting UVB exposure. Three groups of ten Skh:1 hairless, nonpigmented mice exposed to UVB for twenty weeks were given (1) no supplementation, (2) TA-65 supplementation starting when the first UV-induced skin cancers were clinically observed, after which the UV exposure was terminated, and (3) TA-65 supplementation before, during, and after UV exposure (as more tumors subsequently appeared). Except for two time points when Group 3 had borderline or statistically more tumors ≥ 2mm per mouse, overall, there was no statistically significant difference in the time of onset, the incidence, or the tumor load of skin cancers with TA-65 with either timing, confirming the safety of this anti-aging supplement in this model of the most frequent human malignancy.


Author(s):  
Rachel A. Bright ◽  
Fabio V. Lima ◽  
Cecilia Avila ◽  
Javed Butler ◽  
Kathleen Stergiopoulos

Abstract Heart failure (HF) remains the most common major cardiovascular complication arising in pregnancy and the postpartum period. Mothers who develop HF have been shown to experience an increased risk of death as well as a variety of adverse cardiac and obstetric outcomes. Recent studies have demonstrated that the risk to neonates is significant, with increased risks in perinatal morbidity and mortality, low Apgar scores, and prolonged neonatal intensive care unit stays. Information on the causal factors of HF can be used to predict risk and understand timing of onset, mortality, and morbidity. A variety of modifiable, nonmodifiable, and obstetric risk factors as well as comorbidities are known to increase a patient's likelihood of developing HF, and there are additional elements that are known to portend a poorer prognosis beyond the HF diagnosis. Multidisciplinary cardio‐obstetric teams are becoming more prominent, and their existence will both benefit patients through direct care and increased awareness and educate clinicians and trainees on this patient population. Detection, access to care, insurance barriers to extended postpartum follow‐up, and timely patient counseling are all areas where care for these women can be improved. Further data on maternal and fetal outcomes are necessary, with the formation of State Maternal Perinatal Quality Collaboratives paving the way for such advances.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 968.2-969
Author(s):  
M. Ferrada ◽  
N. Costedoat-Chalumeau ◽  
G. Moulis ◽  
N. Linn ◽  
E. Rose ◽  
...  

Background:Ear chondritis is often considered the pathognomonic feature of relapsing polychondritis (RP). Although painful redness and swelling of the pinna and a resultant cauliflower ear are universally recognized as chondritis, the complete spectrum of symptoms associated with ear chondritis have not been well described.Objectives:The study objective was to seek patient input to help characterize ear chondritis An online survey was administered in English or Spanish to participants with self-reported RP.Methods:Participants were asked questions about their ear pain, including quality, location, duration, aggravating/alleviating factors, timing of onset and duration. Participants were included who reported age ≥ 18 years, a diagnosis of RP confirmed by a physician, and sufficient symptoms to meet McAdams or Damiani’s diagnostic criteria. Participants were categorized as having “typical ear chondritis” if they reported ear pain localized to the pinna with associated redness and swelling. Atypical presentations of ear chondritis were also considered.Results:A total of 685 participants from five continents completed the survey. Among them, 659 met inclusion criteria for subsequent analysis. Most participants were female (n=574; 87%), white (n=548; 83%) and from the United States (n=484;74%). The median age was 50 years (interquartile range = 41-58). In total, 593 (90%) patients reported ear pain, 227 (38%) had “typical ear chondritis”, and 98 (16%) had cauliflower ear.Ear pain was most commonly described as burning (n=334, 56%) or throbbing (n=295, 50%). The most common location of pain was the pinna (n=373, 63%). Participants reported ear redness (n=454, 60%) and swelling (n=405, 62%). Some patients experienced only ear redness without swelling (n=286, 48%) or only ear swelling without redness (n=71, 12%). The most common aggravating factors were minor trauma (n=371, 62%) and stress (n=358, 60%). The most common alleviating factor was avoidance of touching the ear (n=374, 63%). Pain was most frequently reported during the daytime (n=355, 60%) and most likely to occur in either ear at different times (n=310, 52%). Onset could be gradual (n=198, 33%) or sudden (n=155, 26%). Pain typically lasted a few hours (n=175, 30%) or 2-3 days (n=130, 22%). The majority of patients who had pinna pain also had pain in other parts of the ear (e.g. mastoid process, inner ear, whole ear) at some point (n=394, 67%). In patients with cauliflower ear, the most common location of pain was the pinna (n=57, 58%) followed by pain inside the ear (n=53, 54%). Most participants reported at least two different types of pain (n=420, 64%).Conclusion:Ear chondritis in patients with RP has a wide range of clinical presentations and characteristics beyond the typical triad of redness, swelling, and pain localized to the pinna. The description of pain often significantly varies within the same patient. Knowledge of the various distinct characteristics of ear involvement in RP may help physicians recognize and monitor the disease more effectively.Disclosure of Interests:None declared


Author(s):  
Kinda Al-Hourani ◽  
Jessica Lee Siew Hua ◽  
Parijat De

A combination of sub-therapeutic chelation and subsequent iron overload are regarded as the principal drivers of endocrine dysfunction in thalassaemia. The clinical presentation of endocrine complications and their timing of onset can be highly variable, in part due to population heterogeneity but also variation in chelation strategies. Endocrinopathies commonly associated with thalassaemia include: growth delay; pubertal delay; gonadal dysfunction; thyroid disorders; parathyroid and adrenal gland impairment; impaired bone metabolism; and type 2 diabetes mellitus. In this chapter we summarise the main presentations of endocrine disorder in thalassaemia, summarising their epidemiology, clinical presentation and pathophysiologic basis. Furthermore, we review screening, monitoring and treatment strategies, with particular regard to the UK Thalassaemia Society’s 2016 National Standards.


Author(s):  
Richard A. Anderson ◽  
Scott M. Nelson

AbstractThe menopause and its pathological version, premature ovarian insufficiency (POI), are characterized by the cessation of follicle growth in the ovary, with consequent lack of estrogen production and amenorrhea. The measurement of a specific product of ovarian follicles would therefore be expected to be a valuable biomarker in women with POI, and to be of likely clinical value in the diagnosis and perhaps prediction of POI. Anti-Müllerian hormone (AMH) is produced by the granulosa cells of growing follicles and is therefore likely to be of value in this context. Current data indicate that measurement of AMH is an accurate indicator of POI in many situations and has diagnostic validity and may facilitate more timely diagnosis. AMH seems to be of limited value in predicting age at natural menopause, even with multiple measurements, and there are scarce data regarding prediction of POI, other than when it is imminent, and in some contexts where there is an immediate iatrogenic threat to ovarian function. AMH therefore appears to have considerable value as a diagnostic test for POI, but apart from highlighting broadly those at increased risk, it has inadequate precision to be able to predict accurately the timing of onset of impending POI.


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