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Cureus May 2024A Dieulafoy lesion is an abnormal artery located in the gastric submucosa that represents a rare cause of upper gastrointestinal bleeding. These lesions typically...
A Dieulafoy lesion is an abnormal artery located in the gastric submucosa that represents a rare cause of upper gastrointestinal bleeding. These lesions typically present as massive hemorrhages in older patients, with multiple medical comorbidities. The lesions are diagnosed with endoscopy and treated with hemostasis by clip placement or coagulation. This case report is that of a rare presentation of this rare condition in a younger 18-year-old patient with no medical comorbidities. He presented with hematemesis, melena, and syncope in the setting of ibuprofen self-treatment for a recent upper viral illness. This medication use is a proposed inciting factor for the bleeding lesion, though he had a history of a splenic artery embolization following a remote motor vehicle accident, which could represent a mechanism for a rare acquired lesion. A gastroenterologist was consulted and assisted in the diagnosis and management of this patient. His lesion was identified and treated within 24 hours of his presentation.
PubMed: 38883023
DOI: 10.7759/cureus.60513 -
SAGE Open Medical Case Reports 2024Subarachnoid hemorrhage is a neurological emergency in which arterial blood accumulates in the subarachnoid space with cerebral aneurysmal rupture being the most common...
Subarachnoid hemorrhage is a neurological emergency in which arterial blood accumulates in the subarachnoid space with cerebral aneurysmal rupture being the most common cause. Subarachnoid hemorrhage is often misdiagnosed in the emergency department and mortality rates range from 8% to 67%. It may be the manifestation of the chronicity of the migraine. The difference in severity or quality compared to previous headaches, and other symptoms, particularly neck stiffness, but also seizure, syncope, focal neurological deficit, and vomiting are the key factors differentiating subarachnoid hemorrhage from the migraine. We report a case of a 37-year-old female with a previous history of migraines who presented with acute onset of excruciating headaches in the occiput associated with nausea, vomiting, and photophobia in whom a non-contrast computed tomography scan of the head showed hyper-densities involving the bilateral cerebral cortical sulcus and Sylvian fissure and the cerebral angiography showed a complex aneurysm in anterior communicating artery.
PubMed: 38881976
DOI: 10.1177/2050313X241261012 -
Frontiers in Genetics 2024Long QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H...
BACKGROUND
Long QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 () gene are known to cause Long QT syndrome through an autosomal dominant inheritance pattern. However, as of now, there have been no reports of any variant leading to Long QT syndrome exhibiting incomplete penetrance that is influenced by gender.
METHODS
Whole-exome sequencing (WES) was conducted on the proband to identify pathogenic variants. Subsequently, Sanger sequencing was employed to validate the identified likely pathogenic variants in all family members.
RESULTS
We analyzed a pedigree spanning three-generations afflicted by Long QT syndrome. WES revealed a novel missense variant (p.Val630Gly, c.1889 T>G) as the causative factor for the family's phenotype. Within this family, all three male carriers of the variant carriers exhibited the Long QT syndrome phenotype: one experienced sudden death during sleep, another received an implantable cardioverter defibrillator (ICD), and a younger man displayed a prolonged QTc interval without any instances of syncope or malignant arrhythmia to date. Interestingly, the middle-aged female carrier showed no Long QT Syndrome phenotype. However, her offspring, diagnosed with Turner syndrome (45, X) and also a carrier of this variant, experienced frequent syncope starting at 12 years old and was diagnosed with Long QT syndrome, leading to an ICD implantation when she was 15 years old. These observations suggest that the manifestation of Long QT syndrome associated with this KCNH2 variant exhibits incomplete penetrance influenced by gender within this family, indicating potential protective mechanisms against the syndrome in females affected by this variant.
CONCLUSION
Our investigation has led to the identification of a novel pathogenic variant responsible for Long QT syndrome within a familial context characterized by gender-selective, incomplete penetrance. This discovery highlights a unique pathogenic inheritance pattern for the gene associated with Long QT syndrome, and could potentially shed light on the distinct penetrance behaviors and patterns of the gene. This discovery broadens our exploration of the KCNH2 gene in cardiac arrhythmias, highlighting the intricate genetic dynamics behind Long QT syndrome.
PubMed: 38873110
DOI: 10.3389/fgene.2024.1409459 -
European Journal of Internal Medicine Jun 2024In patients complaining common symptoms such as chest/abdominal/back pain or syncope, acute aortic syndromes (AAS) are rare underlying causes. AAS diagnosis requires...
BACKGROUND
In patients complaining common symptoms such as chest/abdominal/back pain or syncope, acute aortic syndromes (AAS) are rare underlying causes. AAS diagnosis requires urgent advanced aortic imaging (AAI), mostly computed tomography angiography. However, patient selection for AAI poses conflicting risks of misdiagnosis and overtesting.
OBJECTIVES
We assessed the safety and efficiency of a diagnostic protocol integrating clinical data with point-of-care ultrasound (POCUS) and d-dimer (single/age-adjusted cutoff), to select patients for AAI.
METHODS
This prospective study involved 12 Emergency Departments from 5 countries. POCUS findings were integrated with a guideline-compliant clinical score, to define the integrated pre-test probability (iPTP) of AAS. If iPTP was high, urgent AAI was requested. If iPTP was low and d-dimer was negative, AAS was ruled out. Patients were followed for 30 days, to adjudicate outcomes.
RESULTS
Within 1979 enrolled patients, 176 (9 %) had an AAS. POCUS led to net reclassification improvement of 20 % (24 %/-4 % for events/non-events, P < 0.001) over clinical score alone. Median time to AAS diagnosis was 60 min if POCUS was positive vs 118 if negative (P = 0.042). Within 941 patients satisfying rule-out criteria, the 30-day incidence of AAS was 0 % (95 % CI, 0-0.41 %); without POCUS, 2 AAS were potentially missed. Protocol rule-out efficiency was 48 % (95 % CI, 46-50 %) and AAI was averted in 41 % of patients. Using age-adjusted d-dimer, rule-out efficiency was 54 % (difference 6 %, 95 % CI, 4-9 %, vs standard cutoff).
CONCLUSIONS
The integrated algorithm allowed rapid triage of high-probability patients, while providing safe and efficient rule-out of AAS. Age-adjusted d-dimer maximized efficiency.
CLINICAL TRIAL REGISTRATION
Clinicaltrials.gov, NCT04430400.
PubMed: 38871565
DOI: 10.1016/j.ejim.2024.05.029 -
Revue Medicale de Liege Jun 2024Preventing falls in older adults requires a comprehensive approach that distinguishes between accidental falls and falls related to underlying medical problems, such as...
Preventing falls in older adults requires a comprehensive approach that distinguishes between accidental falls and falls related to underlying medical problems, such as syncope. For unintentional falls, prevention follows a three-stage model. The primary level focuses on encouraging regular physical activity, assessing, and reducing footwear and environmental risks, managing comorbidities, and promoting healthy lifestyles. The secondary level aims to identify and manage all risk factors, including in-depth medical assessment and education of older people and their careers. Finally, the tertiary level aims to minimise the consequences of falls through post-fall care, regular medical monitoring and the introduction of mobility aids or monitoring technologies. Educating older people about the risks, adopting safe behaviours, promoting physical activity, and creating safe environments go beyond these levels. This holistic approach anticipates, identifies, and mitigates risks, promotes safe and active ageing, and aims to achieve overall well-being, reduce adverse outcomes, and promote optimal quality of life throughout the ageing process.
Topics: Humans; Accidental Falls; Aged; Risk Factors; Exercise
PubMed: 38869121
DOI: No ID Found -
European Heart Journal Supplements :... Apr 2024Brugada syndrome mainly affects young subjects with structurally normal heart and can cause x syncope or sudden death due to ventricular arrhythmias, even as the first...
Brugada syndrome mainly affects young subjects with structurally normal heart and can cause x syncope or sudden death due to ventricular arrhythmias, even as the first manifestation, in approximately 5-10% of cases. To date, two questions remain open: how to recognize subjects who will experience arrhythmic events and how to treat them. The guidelines suggest treating subjects with a previous history of cardiac arrest or arrhythmogenic syncope, while they are unconclusive about the management of asymptomatic patients, who represent ∼90% of Brugada patients. We recently demonstrated that in asymptomatic patients, the presence of spontaneous Brugada type 1 electrocardiogram (ECG) pattern and inducibility of ventricular arrhythmias at electrophysiological study allows us to identify a group of patients at greater risk who deserve treatment. Regarding treatment, there are three options: implantable cardioverter defibrillator, drugs, and epicardial transcatheter ablation. Recent studies have shown that the latter is effective and free from serious side effects, thus opening a new scenario in the treatment of Brugada patients at risk. Subjects who present drug-induced-only type 1 Brugada ECG pattern, in whom a spontaneous type 1 pattern has been ruled out with repeated ECGs and 12-lead 24-h Holter monitoring, represent a very low-risk group, provided they adhere to behavioural recommendations and undergo regular follow-up.
PubMed: 38867864
DOI: 10.1093/eurheartjsupp/suae021 -
Circulation Reports Jun 2024The prognostic significance of different presentations of aortic stenosis (AS) remains unclear. Our aim was to analyze outcomes after transcatheter aortic valve...
The prognostic significance of different presentations of aortic stenosis (AS) remains unclear. Our aim was to analyze outcomes after transcatheter aortic valve replacement (TAVR) according to preoperative AS symptoms. We retrospectively enrolled 369 consecutive patients (age 84.3±5.0 years, and 64% females) who underwent TAVR from 2014 to 2021. We divided them into 4 groups by the main preoperative symptom: asymptomatic (n=50), chest pain (n=46), heart failure (HF; n=240), and syncope (n=33). Post-TAVR rates of HF readmission, all-cause death and cardiac death were compared among the 4 groups. The 4 groups showed no significant trends in age, sex, stroke volume index, or echocardiography indices of AS severity. During a follow-up, the overall survival rate at 1 and 5 years after TAVR was 97% and 90% in the asymptomatic group, 96% and 69% in the chest pain group, 93% and 69% in the HF group, and 90% and 72% in the syncope group, respectively. HF and syncope symptom had significantly lower HF readmission or cardiac death-free survival at 5 years after TAVR (log-rank test P=0.038). In the Cox hazard multivariate analysis, preoperative syncope was an independent predictor of future HF readmission or cardiac death after TAVR (HR=9.87; 95% CI 1.67-97.2; P=0.035). AS patients with preoperative syncope or HF had worse outcomes after TAVR than those with angina or no symptoms.
PubMed: 38860183
DOI: 10.1253/circrep.CR-24-0020 -
Oxford Medical Case Reports Jun 2024Insulin autoimmune syndrome (IAS) is a rare cause of spontaneous hypoglycaemia. We discuss a 91-year-old Caucasian lady who presented with syncope and episodic...
Insulin autoimmune syndrome (IAS) is a rare cause of spontaneous hypoglycaemia. We discuss a 91-year-old Caucasian lady who presented with syncope and episodic adrenergic and neuroglycopenic symptoms. Despite significantly elevated insulin, C-peptide, and proinsulin levels with the presence of anti-insulin antibodies, a pancreatic mass was not identified. Serum immunoelectrophoresis demonstrated monoclonal gammopathy of undetermined significance (MGUS). Treatment involved high-dose steroids, diazoxide, corn starch and acarbose, however the patient passed away four months later due to worsening co-morbidities. The management of IAS in the setting of MGUS is challenging.
PubMed: 38860020
DOI: 10.1093/omcr/omae054 -
Frontiers in Genetics 2024The aim of this study was to analyze the diagnosis, treatment, and follow-up of six cases of complex arrhythmias associated with gene mutations in children.
OBJECTIVE
The aim of this study was to analyze the diagnosis, treatment, and follow-up of six cases of complex arrhythmias associated with gene mutations in children.
METHOD
A retrospective analysis was conducted on six children diagnosed with complex arrhythmias associated with gene mutations. The study included an analysis of the age of onset, initial symptoms, electrocardiographic characteristics, genetic results, treatment course, and follow-up outcomes.
RESULTS
Among the six cases included in the study, there were four males and two females, with an average age of 3.5 ± 0.5 years. The average time from initial symptoms to diagnosis was 2.7 ± 1.3 years. The most common clinical manifestation was syncope, with exercise and emotions being the main triggers. All six children had missense mutations in the gene identified through whole-exome sequencing. In Holter electrocardiogram, atrial arrhythmias and sinoatrial node dysfunction were commonly observed in younger children. Four patients underwent exercise stress testing, with two experiencing bidirectional ventricular premature contractions and two experiencing bidirectional ventricular tachycardia and polymorphic ventricular tachycardia. Initial treatment involved oral propranolol or metoprolol. If arrhythmias persisted, flecainide or propafenone was added as adjunctive therapy. Two patients received permanent cardiac pacemaker treatment (single chamber ventricular pacemaker, VVI). All patients survived, with three experiencing occasional syncope during treatment. The follow-up period ranged from 12 to 37 months, with an average follow-up time of 24.3 ± 3.7 months.
CONCLUSION
Complex arrhythmias associated with gene mutations in children can present with various clinical manifestations. Atrial arrhythmias combined with sinoatrial node dysfunction are commonly observed in younger children, and the combination of pharmacological therapy and cardiac pacemaker treatment yields favourable treatment outcomes.
PubMed: 38859939
DOI: 10.3389/fgene.2024.1405437 -
Aging Clinical and Experimental Research Jun 2024Balance disorders can give rise to sensations of instability, lightheadedness, vertigo, disequilibrium, or syncope, ultimately leading to grave medical, physical,...
BACKGROUND
Balance disorders can give rise to sensations of instability, lightheadedness, vertigo, disequilibrium, or syncope, ultimately leading to grave medical, physical, emotional, and societal ramifications. These conditions are highly prevalent among individuals aged 40 and above. Screen time encompasses activities associated with television viewing, video game playing, and non-work-related computer usage. Prolonged screen exposure may engender a spectrum of health issues and even elevate overall mortality rates. However, the available evidence on the potential link between excessive screen time and balance dysfunction remains limited.
AIMS
The primary aim of this study was to explore the possible association between prolonged screen exposure and impaired balance function.
METHODS
This cross-sectional study utilized data from participants who completed a comprehensive questionnaire in the NHANES database between 1999 and 2002, all of whom were aged over 40 and under 85 years. Participants' screen time was categorized into two groups (< 4 h/d and ≥4 h/d) for subsequent data analysis. Logistic regression, combined with propensity score matching (PSM), was employed to investigate the correlation between screen time and balance disorders.
RESULTS
A total of 5176 participants were enrolled in this study, comprising 2,586 men and 2,590 women, with a prevalence rate of balance disorders at 25.7% (1331/5176). The incidence of balance disorders was found to be significantly higher among individuals who spent 4 hours or more per day on screen time compared to those with less screen time (P<0.001). Multivariate logistic analysis conducted on the unmatched cohort revealed a significant association between screen time and balance disorders, with an odds ratio (OR) 1.8 (95%CI 1.57 ∼ 2.05). These findings remained consistent even after adjusting for confounding factors, yielding an OR 1.43 (95%CI 1.24 ∼ 1.66). Moreover, the association persisted when employing various multivariate analyses such as propensity score matching adjusted model, standardized mortality ratio weighting model and pairwise algorithmic model; all resulting in ORs ranging from 1.38 to 1.43 and p-values < 0.001.
CONCLUSIONS
After controlling for all covariates, screen time (watching TV, playing video games, and using computers outside of work) was associated with balance dysfunction among middle-aged and older adults. This finding may offer a possible idea for the prevention of dizziness and balance disorders. Nevertheless, additional research is imperative to further validate these results.
Topics: Humans; Male; Female; Middle Aged; Aged; Nutrition Surveys; Cross-Sectional Studies; Screen Time; Postural Balance; Self Report; Adult; Aged, 80 and over; Sensation Disorders; Prevalence; Video Games; United States
PubMed: 38856860
DOI: 10.1007/s40520-024-02778-8