BACKGROUND AND OBJECTIVE

Mothers play a significant role as primary caregivers for children with congenital heart disease (CHD) within the family. Given the complex health needs of children with CHD, coping strategies are needed to deal with the challenges associated with caring for their children with the condition. Coping mechanisms encompass fostering resilience, seeking support, and maintaining a positive outlook to navigate stress, uncertainty, and obstacles throughout their child's medical journey with CHD. The objective of this study is to explore the coping strategies employed by mothers of children diagnosed with CHD in a tertiary hospital in the Philippines.

Employing a descriptive qualitative study design, data was gathered through key informant interviews utilizing a semi-structured topic guide, which aimed to explore the perspectives and experiences of mothers with children with CHDs. Ethical approval was obtained, and data collection occurred from January to March 2016. Interview transcripts were recorded, transcribed verbatim, and underwent content analysis. Themes derived from the analysis were then validated and confirmed by the study participants.

A total of 11 mothers voluntarily participated in the study. These participants expressed utilizing various coping strategies to manage their child's condition, including seeking assistance from both physicians and traditional healers, advocating for their children, receiving support from their family and friends, regulation of emotion, and prayer and faith in God.

This study sheds light on the coping mechanisms used by mothers in raising thier children with CHD, highlighting the value of spirituality and psychological support in their journey. Enhancing assistance for impacted families and advancing genetic counseling services are two benefits of incorporating these findings into healthcare practice.

This is a case of a 44 year old single, Filipino, female who presented with dysarthria, left central facial paresis, left hemianopsia and left hemiparesis. Magnetic Resonance Imaging showed an acute infarction of the right posterior cerebral artery territory. 2d echo and transesophageal echocardiography were done and vegetations were observed on the mitral, aortic and tricuspid valves giving a diagnosis of endocarditis. With the absence of fever and negative blood cultures, infective endocarditis was less likely. On further workup, computed tomography scan of the abdomen showed a probable malignant ovarian mass. This finding led to a diagnosis of nonbacterial thrombotic endocarditis as the cause of the stroke. Endocarditis as a cause of an embolic event in the brain is uncommon and nonbacterial thromobotic endocarditis is rare. It commonly affects the left sided heart valves. Multivalvular involvement which includes the right sided heart valves are rarely reported. Nonbacterial thrombotic endocarditis has a high mortality so therefore early detection and management is crucial and can be life-saving.

Background and Objective: Premature ventricular complex (PVC) burden exhibits one of three circadian types, classified as fast-type, slow-type, and independent-type PVC. It is unknown whether PVC circadian types have different heart rate variability (HRV) parameter values. Therefore, this study aimed to evaluate differences in HRV circadian rhythm among fast-, slow-, and independent-type PVC. Methods: This cross-sectional observational study consecutively recruited 65 idiopathic PVC subjects (23 fast-, 20 slow-, and 22 independent-type) as well as five control subjects. Each subject underwent a 24-hour Holter to examine PVC burden and HRV. HRV analysis included components that primarily reflect global, parasympathetic, and sympathetic activities. Repeated measures analysis of variance was used to compare differences in HRV circadian rhythm by PVC type. Results. The average PVC burden was 15.7%, 8.4%, and 13.6% in fast-, slow-, and independent-type idiopathic PVC subjects, respectively. Global, parasympathetic nervous system, and sympathetic nervous system HRV parameters were significantly lower in independenttype PVC versus fast- and slow-type PVC throughout the day and night. Furthermore, we unexpectedly found that tendency towards sympathetic activity dominance during nighttime was only in independent-type PVC. Conclusion The HRV parameters are reduced in patients with independent-type PVC compared to fast- and slowtype PVC. Future research is warranted to determine possible differences in the prognosis between the three PVC types.
Ventricular Premature Complexes ; Circadian Rhythm ; Autonomic Nervous System

Cardiovascular risk assessment is a basic tenet of the prevention of cardiovascular disease. Conventional risk assessment models require measurements of blood pressure, blood lipids, and other health-related information prior to assessment of risk via regression models. Compared with traditional approaches, fundus photograph-based cardiovascular risk assessment using artificial intelligence (AI) technology is novel, and has the advantages of immediacy, non-invasiveness, easy performance, and low cost. The Health Risk Assessment and Control Committee of the Chinese Preventive Medicine Association, in collaboration with the Chinese Society of Cardiology and the Society of Health Examination, invited multi-disciplinary experts to form a panel to develop the present consensus, which includes relevant theories, progress in research, and requirements for AI model development, as well as applicable scenarios, applicable subjects, assessment processes, and other issues associated with applying AI technology to assess cardiovascular risk based on fundus photographs. A consensus was reached after multiple careful discussions on the relevant research, and the needs of the health management industry in China and abroad, in order to guide the development and promotion of this new technology.
Humans ; Cardiovascular Diseases/prevention & control* ; Artificial Intelligence ; Consensus ; Risk Factors ; Heart Disease Risk Factors

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

Background and Objective: Mothers play a significant role as primary caregivers for children with congenital heart disease (CHD) within the family. Given the complex health needs of children with CHD, coping strategies are needed to deal with the challenges associated with caring for their children with the condition. Coping mechanisms encompass fostering resilience, seeking support, and maintaining a positive outlook to navigate stress, uncertainty, and obstacles throughout their child's medical journey with CHD. The objective of this study is to explore the coping strategies employed by mothers of children diagnosed with CHD in a tertiary hospital in the Philippines. Methods: Employing a descriptive qualitative study design, data was gathered through key informant interviews utilizing a semi-structured topic guide, which aimed to explore the perspectives and experiences of mothers with children with CHDs. Ethical approval was obtained, and data collection occurred from January to March 2016. Interview transcripts were recorded, transcribed verbatim, and underwent content analysis. Themes derived from the analysis were then validated and confirmed by the study participants. Results: A total of 11 mothers voluntarily participated in the study. These participants expressed utilizing various coping strategies to manage their child's condition, including seeking assistance from both physicians and traditional healers, advocating for their children, receiving support from their family and friends, regulation of emotion, and prayer and faith in God. Conclusion This study sheds light on the coping mechanisms used by mothers in raising thier children with CHD, highlighting the value of spirituality and psychological support in their journey. Enhancing assistance for impacted families and advancing genetic counseling services are two benefits of incorporating these findings into healthcare practice.
Heart Defects, Congenital ; Coping Skills

The electrocardiographic analysis of heart blocks provides great opportunities for the discussion of mechanisms of electrical cardiac conduction, serving as “teachable moments” in medicine. Recognition of heart blocks can sometimes be a challenge as they can present in many forms, different severities and levels of blocks that present as varied patterns on electrocardiographic tracing. The ultimate key to correct diagnosis rests on adequate understanding of normal electrophysiology of the electrical system of the heart. While it is vital to recognize the pattern, we should always know and understand the physiology behind the pattern. This article presents a detailed analysis of a case of heart block which can easily be misinterpreted on first look. The case is featured not for its rarity but for the interesting concepts in cardiac electrophysiology that are highlighted. Navigation of the different elements of tracing can be an adventure and a great learning experience enjoyed by both students and experts.
Heart Block ; Electrocardiography

Humans ; Cardiovascular System ; Cardiovascular Diseases ; Heart

Humans ; Cardiovascular System ; Cardiovascular Diseases ; Heart

Turner syndrome and Mayer-Rokitansky-Kuster-Hauser syndrome are the most common causes of primary amenorrhea. However, mullerian agenesis in patients with Turner syndrome is rare, with only 15 reported cases worldwide. Described in this report is an 18-year-old female who presented with primary amenorrhea, absent secondary sexual characteristics, short stature, webbed neck, and shield chest. Work up revealed hypergonadotropic hypogonadism, absence of normal ovaries and uterus, and hypothyroidism. She had a 45,X karyotype and was diagnosed with a very rare case of Turner syndrome with associated Mayer-Rokitansky-Kuster-Hauser syndrome. Early detection of the etiology of amenorrhea is critical for prompt management and initiation of hormonal replacement. She was counseled on the possible systemic problems associated with her condition. The importance of regular follow-up and continuous care were also emphasized. With the coexistence of these two conditions, adoption is the only option for having children in the Philippines, where oocyte donation and uterine transplantation are currently unavailable.
Turner Syndrome ; Mullerian aplasia