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Frontiers in Sociology 2024Postural orthostatic Tachycardia Syndrome (PoTS), sometimes also written as 'POTS', is a form of dysautonomia (dysfunction of the autonomic nervous system) and...
Postural orthostatic Tachycardia Syndrome (PoTS), sometimes also written as 'POTS', is a form of dysautonomia (dysfunction of the autonomic nervous system) and orthostatic intolerance (which causes symptoms to be worsened when standing). This paper explores the extant literature on the lived experiences of those living with PoTS in relation to interactions between patients and healthcare providers as well as interactions at the level of the individual between PoTSies and those around them. My title contains the word 'salty' because it can be used to describe the feeling of being frustrated, while also reflecting a specific dietary change recommended to many (but not all) PoTS patients when they are told to consume additional sodium to minimise symptoms. COVID-19 is thought to have led to an increased prevalence of PoTS so this topic is particularly relevant to contemporary discussions and debates. In this sociological article, I refer not only to existing research on the lived experiences of having PoTS but also that of other chronic illnesses when relevant. The following themes are explored through auto/biographical and theoretical analysis: Undiagnosed and Invalidated; (In)Visible; Impacts of Diagnosis; Recovery and Expectations; Community. Reflecting auto/biographically, I have included analysis of interactions related to my lived experiences of presyncope, COVID-19 and dysautonomia, as I have been diagnosed with PoTS myself, which is thought to have been significantly exacerbated by the COVID-19 virus. This research is sociological, rather than medical or psychological, and conclusions are drawn about what is known so far about the lived experiences of living with PoTS, as well as discussion about what remains unknown, as there is currently a paucity of research on the lived experiences of individuals with PoTS and its comorbidities.
PubMed: 38912309
DOI: 10.3389/fsoc.2024.1283695 -
Methodist DeBakey Cardiovascular Journal 2024Apical hypertrophic cardiomyopathy (HCM) is a rare variant of HCM. A 43-year-old female with a past medical history significant for hypertension and kidney...
Apical hypertrophic cardiomyopathy (HCM) is a rare variant of HCM. A 43-year-old female with a past medical history significant for hypertension and kidney transplantation presented with recurrent syncopal episodes and dyspnea on exertion. Electrocardiogram showed characteristic diffuse giant T-waves inversion, and cardiac magnetic resonance showed HCM with circumferential apical thickening. This case highlights the rapid development of apical HCM and its challenging diagnostic characteristics.
Topics: Humans; Female; Cardiomyopathy, Hypertrophic; Adult; Electrocardiography; Disease Progression; Magnetic Resonance Imaging; Predictive Value of Tests; Magnetic Resonance Imaging, Cine; Apical Hypertrophic Cardiomyopathy
PubMed: 38911827
DOI: 10.14797/mdcvj.1386 -
Pulmonary Circulation Apr 2024Pulmonary hypertension (PH) adds a substantial disease burden, including higher mortality, when associated with interstitial lung disease (ILD), a severe, chronic,...
Pulmonary hypertension (PH) adds a substantial disease burden, including higher mortality, when associated with interstitial lung disease (ILD), a severe, chronic, progressive condition. Yet little is known of the lived experiences, perspectives, priorities, and viewpoints of patients and carers living with PH-ILD. The Voice of the Patient meeting at the center of this qualitative research study aims to provide these difficult-to-obtain insights from a European perspective for the first time. The multistakeholder approach brought together four PH-ILD patients, three primary caregivers, two patient associations, clinical experts, sponsor representatives, and a facilitator. Of the six major themes identified in the thematic analysis, symptoms, and physical limitations were the most impactful. Shortness of breath was the most bothersome symptom affecting patients daily. Further symptoms included fatigue, cough, dizziness, syncope, edema, and palpitations. Physical limitations focused on reduced mobility, impacting patients' ability to perform daily tasks, hobbies, sports, and to enjoy travel. Existing antifibrotic and pulmonary arterial hypertension-targeted treatments were perceived as beneficial. However, despite advances in treatment, severe disease burdens and high unmet medical needs persist from the perspectives of patients. Most meaningful to patients' daily wellbeing was supplemental oxygen, enabling greater mobility. Patients and carers reported difficulties and barriers in navigating the healthcare system and obtaining adequate information to reduce their considerable uncertainties, documenting the substantial challenges that rare and complex conditions such as PH-ILD pose for routine clinical practice beyond PH expert centers and indicating an urgent need for high-quality patient- and clinician-directed information to support patient-centered care.
PubMed: 38911184
DOI: 10.1002/pul2.12405 -
Cureus May 2024Intralesional steroid injections avoid potential side effects associated with systemic administration, such as hypothalamus-pituitary-adrenal axis suppression,...
Intralesional steroid injections avoid potential side effects associated with systemic administration, such as hypothalamus-pituitary-adrenal axis suppression, endocrine changes, allergic reactions, syncope, and blindness, but do not spare local side effects, such as pain, hemorrhage, ulceration, atrophy, hypopigmentation, calcification, secondary infection, granuloma formation, and allergic reaction. Linear leukoderma following intralesional steroid is a rare but known complication. Here, we report a case of a 23-year-old female presented with cutaneous linear depigmentation along the volar aspect of her left forearm developed three months following a single episode of injection triamcinolone acetonide for ganglion cyst.
PubMed: 38903338
DOI: 10.7759/cureus.60783 -
Journal of Clinical Medicine May 2024Syncope is a common condition encountered in the emergency department (ED), accounting for about 0.6-3% of all ED visits. Despite its high frequency, a widely accepted... (Review)
Review
Syncope is a common condition encountered in the emergency department (ED), accounting for about 0.6-3% of all ED visits. Despite its high frequency, a widely accepted management strategy for patients with syncope in the ED is still missing. Since syncope can be the presenting condition of many diseases, both severe and benign, most research efforts have focused on strategies to obtain a definitive etiologic diagnosis. Nevertheless, in everyday clinical practice, a definitive diagnosis is rarely reached after the first evaluation. It is thus troublesome to aid clinicians' reasoning by simply focusing on differential diagnoses. With the current review, we would like to propose a management strategy that guides clinicians both in the identification of conditions that warrant immediate treatment and in the management of patients for whom a diagnosis is not immediately reached, differentiating those that can be safely discharged from those that should be admitted to the hospital or monitored before a final decision. We propose the mnemonic acronym RED-SOS: Recognize syncope; Exclude life-threatening conditions; Diagnose; Stratify the risk of adverse events; Observe; decide on the Setting of care. Based on this acronym, in the different sections of the review, we discuss all the elements that clinicians should consider when assessing patients with syncope.
PubMed: 38892942
DOI: 10.3390/jcm13113231 -
International Journal of Molecular... Jun 2024Arrhythmogenic cardiomyopathy (ACM) is a rare genetic cardiac disease characterized by the progressive substitution of myocardium with fibro-fatty tissue. Clinically,... (Review)
Review
Arrhythmogenic cardiomyopathy (ACM) is a rare genetic cardiac disease characterized by the progressive substitution of myocardium with fibro-fatty tissue. Clinically, ACM shows wide variability among patients; symptoms can include syncope and ventricular tachycardia but also sudden death, with the latter often being its sole manifestation. Approximately half of ACM patients have been found with variations in one or more genes encoding cardiac intercalated discs proteins; the most involved genes are plakophilin 2 (), desmoglein 2 (), and desmoplakin (). Cardiac intercalated discs provide mechanical and electro-metabolic coupling among cardiomyocytes. Mechanical communication is guaranteed by the interaction of proteins of desmosomes and adheren junctions in the so-called , whereas electro-metabolic coupling between adjacent cardiac cells depends on gap junctions. Although ACM has been first described almost thirty years ago, the pathogenic mechanism(s) leading to its development are still only partially known. Several studies with different animal models point to the involvement of the Wnt/β-catenin signaling in combination with the Hippo pathway. Here, we present an overview about the existing murine models of ACM harboring variants in intercalated disc components with a particular focus on the underlying pathogenic mechanisms. Prospectively, mechanistic insights into the disease pathogenesis will lead to the development of effective targeted therapies for ACM.
Topics: Animals; Humans; Disease Models, Animal; Arrhythmogenic Right Ventricular Dysplasia; Plakophilins; Desmoplakins; Wnt Signaling Pathway; Desmoglein 2; Desmosomes; Mice
PubMed: 38892395
DOI: 10.3390/ijms25116208 -
Open Heart Jun 2024Neurocardiogenic syncope is a common condition with significant associated psychological and physical morbidity. The effectiveness of therapeutic options for... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Neurocardiogenic syncope is a common condition with significant associated psychological and physical morbidity. The effectiveness of therapeutic options for neurocardiogenic syncope beyond placebo remains uncertain.
METHODS
The primary endpoint was the risk ratio (RR) of spontaneously recurring syncope following any therapeutic intervention. We also examined the effect of blinding on treatment efficacy. We identified all randomised trials which evaluated the effect of any pharmacological, device-based or supportive intervention on patients with a history of syncope. A systematic search was conducted on Medline, Embase, PubMed databases and Cochrane Central Register for Controlled Trials from 1950 to 25 April 2023. Event rates, their RRs and 95% CIs were calculated, and a random-effects meta-analysis was conducted for each intervention. Data analysis was performed in R using RStudio.
RESULTS
We identified 47 eligible trials randomising 3518 patients. Blinded trials assessing syncope recurrence were neutral for beta blockers, fludrocortisone and conventional dual-chamber pacing but were favourable for selective serotonin reuptake inhibitors (SSRIs) (RR 0.40, 95% CI 0.26 to 0.63, p<0.001), midodrine (RR 0.70, 95% CI 0.53 to 0.94, p=0.016) and closed-loop stimulation (CLS) pacing (RR 0.15, 95% CI 0.07 to 0.35, p<0.001). Unblinded trials reported significant benefits for all therapy categories other than beta blockers and consistently showed larger benefits than blinded trials.
CONCLUSIONS
Under blinded conditions, SSRIs, midodrine and CLS pacing significantly reduced syncope recurrence. Future trials for syncope should be blinded to avoid overestimating treatment effects.
PROSPERO REGISTRATION NUMBER
CRD42022330148.
Topics: Humans; Syncope, Vasovagal; Randomized Controlled Trials as Topic; Treatment Outcome; Recurrence
PubMed: 38890128
DOI: 10.1136/openhrt-2024-002669 -
Frontiers in Pediatrics 2024Vasovagal syncope (VVS) and psychogenic pseudosyncope (PPS) can be difficult to distinguish, given their similar clinical presentations. This study was conducted to...
BACKGROUND AND PURPOSE
Vasovagal syncope (VVS) and psychogenic pseudosyncope (PPS) can be difficult to distinguish, given their similar clinical presentations. This study was conducted to explore the clinical value of catecholamine levels in the differential diagnosis of VVS and PPS in children.
METHODS
This retrospective case-control study was conducted with data from children with VVS and PPS who underwent head-up tilt tests (HUTTs) at the Children's Hospital of Hebei Province between March 2021 and March 2023. The data collected were baseline clinical characteristics, HUTT results, serum catecholamine levels in the supine and upright positions, and 24 h urinary catecholamine concentrations. These variables were compared between the VVS and PPS groups.
RESULTS
From 328 potentially eligible cases, 54 (16.46%) cases of VVS and 24 (7.32%) cases of PPS were included in the analysis. No significant difference in age, sex, body mass index, or syncope frequency was observed between the VVS and PPS groups. The main predisposing factors for syncope were body position changes in the VSS group (83.33%) and emotional changes in the PPS group (41.67%). The episode duration was significantly shorter in the VSS group than in the PPS group (4.01 ± 1.20 vs. 24.06 ± 5.56 min, < 0.05). The recovery time was also shorter in the VVS group than in the PPS group (1.91 ± 0.85 vs. 8.62 ± 2.55 min, < 0.05). Relative to patients with PPS, those with VVS had significantly higher serum epinephrine (EP) levels in the upright position [199.35 (102.88, 575.00) vs. 147.40 (103.55, 227.25), < 0.05] and lower serum epinephrine levels in the supine position [72.70 (42.92, 122.85) vs. 114.50 (66.57, 227.50), < 0.05].
CONCLUSIONS
Serum EP levels have potential value in the differential diagnosis of VVS and PPS.
PubMed: 38884104
DOI: 10.3389/fped.2024.1281196 -
Frontiers in Pediatrics 2024Congenital Long QT Syndrome (LQTS) is common in a First Nations community in Northern British Columbia due to the founder variant p.V205M. Although well characterized...
A mild phenotype associated with p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management.
INTRODUCTION
Congenital Long QT Syndrome (LQTS) is common in a First Nations community in Northern British Columbia due to the founder variant p.V205M. Although well characterized molecularly and clinically in adults, no data have been previously reported on the pediatric population. The phenotype in adults has been shown to be modified by a splice site variant in (p.L353L). The p.P479L metabolic variant, also common in Northern Indigenous populations, is associated with hypoglycemia and infant death. Since hypoglycemia can affect the corrected QT interval (QTc) and may confer risk for seizures (also associated with LQTS), we sought to determine the effect of all three variants on the LQTS phenotype in children within our First Nations cohort.
METHODS
As part of a larger study assessing those with LQTS and their relatives in a Northern BC First Nation, we assessed those entering the study from birth to age 18 years. We compared the corrected peak QTc and potential cardiac events (syncope/seizures) of 186 children from birth to 18 years, with and without the (p.V205M and p.L353L) and variants, alone and in combination. Linear and logistic regression and student -tests were applied as appropriate.
RESULTS
Only the p.V205M variant conferred a significant increase in peak QTc 23.8 ms ( < 0.001) above baseline, with females increased by 30.1 ms ( < 0.001) and males by 18.9 ms ( < 0.01). There was no evidence of interaction effects with the other two variants studied. Although the p.V205M variant was not significantly associated with syncope/seizures, the odds of having a seizure/syncope were significantly increased for those homozygous for p.P479L compared to homozygous wild type (Odds Ratio [OR]3.0 [95% confidence interval (CI) 1.2-7.7]; = 0.019).
CONCLUSION
While the p.V205M variant prolongs the peak QTc, especially in females, the p.P479L variant is more strongly associated with loss of consciousness events. These findings suggest that effect of the p.V205M variant is mild in this cohort, which may have implications for standard management. Our findings also suggest the p.P479L variant is a risk factor for seizures and possibly syncope, which may mimic a long QT phenotype.
PubMed: 38884101
DOI: 10.3389/fped.2024.1394105 -
MedRxiv : the Preprint Server For... Jun 2024To describe the distribution of alcohol and drug involvement in injurious falls by location and subtype of fall.
OBJECTIVE
To describe the distribution of alcohol and drug involvement in injurious falls by location and subtype of fall.
METHODS
Using the 2019 National Emergency Medical Services Information System (NEMSIS) dataset we identified 1,854,909 patients injured from falls requiring an Emergency Medical Services (EMS) response and determined the fall location (e.g. indoors or on street/sidewalk) and the EMS clinician's notation of alcohol or drug involvement. We analyzed substance involvement by fall subtype, location of fall and patient demographics.
RESULTS
Overall, for 7.4% of injurious falls there was a notation of substance use: 6.5% for alcohol alone, 0.6% for drugs and 0.3% for alcohol and drugs. 21.2% of falls that occurred on a street or sidewalk had a notation of substance use; alcohol use alone for 18.5% of falls, drugs alone for 1.7% of falls and alcohol and drugs for 0.9% of falls. Substance use prevalence was highest, at 30.3%, in the age group 21 to 64 years, for falls occurring on streets and sidewalks, without syncope or heat illness as contributing factors; alcohol use alone for 26.3%, drugs alone for 2.6%, and alcohol and drugs for 1.4%. Reported substance use involvement was more frequent for men compared to women for each location type.
CONCLUSIONS
Overall, 1-in-5 injurious falls on streets and sidewalks and requiring EMS attention involved substance use, and these numbers likely underestimate the true burden. As cities seek to expand nightlife districts, design strategies to protect pedestrians from falls should be enacted.
PubMed: 38883717
DOI: 10.1101/2024.06.03.24308063