BACKGROUND

Persistent left superior vena cava (PLSVC) is a rare but clinically relevant congenital vascular anomaly, occurring in 0.3% of the general population and up to 4.3% in those with congenital heart disease. It is usually asymptomatic and incidentally discovered during imaging, catheterization, or surgery.

We present the case of a 38-year-old hypertensive female who was evaluated for acute chest discomfort, palpitations and near-syncope. Transthoracic echocardiography revealed a dilated coronary sinus, prompting a contrast echocardiography study that demonstrated early opacification of the coronary sinus upon left arm injection confirming the diagnosis of PLSVC.

This case underscores the importance of recognizing coronary sinus dilatation as a potential marker of venous anomalies such as PLSVC. Contrast echocardiography with bilateral injections remains a practical, non-invasive tool in its diagnosis, with significant implications for future invasive procedures.

BACKGROUND

Cyanotic congenital heart disease (CHD) accounts for 20% of all cardiac malformations with an estimated incidence of 2.5–3 per 1,000 live births. An increasing number of patients now survive into adolescence, with or without intervention, forming a unique group requiring specialized care.

To determine factors influencing survival among adolescents with unrepaired cyanotic CHD.

This single-center case-control study was conducted from 2017 to 2022 in a specialized tertiary center in the Philippines. Sample size was based on a 2.6% total fatality rate among infants who underwent CHD operations. Binary logistic regression was used to identify significant predictors of survival, with pRESULTS

Among 125 subjects, 58% (72/125) were males with a median age of 16 years. The median age at diagnosis was 1 year and 1 month; 73% resided outside Metro Manila. Most patients were New York Heart Association (NYHA) Class I (49%), with Tetralogy of Fallot as the most common diagnosis (52%) and 26% had palliative procedures. Predictors of survival included place of origin (OR 0.38, 95% CI 0.15–0.95, p = 0.039), oxygen saturation (OR 1.12, 95% CI 1.06–1.17, pCONCLUSION

Optimizing oxygenation, improving access to care and strengthening targeted interventions are crucial for enhancing survival among adolescents with unrepaired cyanotic CHD.

BACKGROUND

Cyanotic congenital heart disease (CHD) accounts for 20% of all cardiac malformations with an estimated incidence of 2.5–3 per 1,000 live births. An increasing number of patients now survive into adolescence, with or without intervention, forming a unique group requiring specialized care.

To determine factors influencing survival among adolescents with unrepaired cyanotic CHD.

This single-center case-control study was conducted from 2017 to 2022 in a specialized tertiary center in the Philippines. Sample size was based on a 2.6% total fatality rate among infants who underwent CHD operations. Binary logistic regression was used to identify significant predictors of survival, with pRESULTS

Among 125 subjects, 58% (72/125) were males with a median age of 16 years. The median age at diagnosis was 1 year and 1 month; 73% resided outside Metro Manila. Most patients were New York Heart Association (NYHA) Class I (49%), with Tetralogy of Fallot as the most common diagnosis (52%) and 26% had palliative procedures. Predictors of survival included place of origin (OR 0.38, 95% CI 0.15–0.95, p = 0.039), oxygen saturation (OR 1.12, 95% CI 1.06–1.17, pCONCLUSION

Optimizing oxygenation, improving access to care and strengthening targeted interventions are crucial for enhancing survival among adolescents with unrepaired cyanotic CHD.

OBJECTIVE

To compare the frequency and severity of color vision defects between diabetes mellitus (DM) patients without retinopathy and those with mild non-proliferative diabetic retinopathy (NPDR), and to evaluate the relationship between these color vision defects and capillary blood glucose (CBG) levels.

This was a cross-sectional, hospital-based study conducted over a seven-month period at the Ophthalmology Outpatient Department of Cardinal Santos Medical Center. Thirty-five (35) DM patients (70 eyes) aged 50 to 75 years with best-corrected visual acuity of ≥20/50 and no more than mild NPDR were included. Patients with moderate or severe NPDR, macular edema, optic nerve pathology, or significant cataracts were excluded. All participants underwent visual acuity testing, fundus examination, and color vision assessment using the Ishihara pseudoisochromatic plates and Farnsworth D-15 tests conducted under standardized lighting conditions. CBG was measured using the finger-prick method. Main outcome measures included the proportion and type of color vision defects, their association with DR classification, and CBG levels. Statistical analyses included descriptive statistics, the Fisher exact test, the Mann-Whitney U test for the Farnsworth D-15 Color Confusion Index (CCI), and Spearman correlation between CBG and CCI.

Tritan-type defects were the most common, accounting for 36.2%. Color vision defects were observed in 91.3% (64 eyes) of patients with no DR, while defects were seen in all eyes (100%) with mild NPDR (5 eyes). However, this difference was not statistically significant (p = 1.000). There was no significant correlation between CBG levels and color vision scores. Mean CCI scores were similar between groups (p = 0.394), indicating no substantial difference in defect severity.

Color vision defects may be more prevalent in early NPDR compared to no DR, but this difference was not significant in this sample. No correlation was found between CBG levels and color vision performance. Color vision testing may serve as a useful adjunctive screening tool for early diabetic retinal changes; however, further studies with larger sample sizes are necessary.

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.

OBJECTIVE: Exposure to polycyclic aromatic hydrocarbons (PAHs) or metal(loid)s individually has been associated with neural tube defects (NTDs). However, the impacts of PAH and metal(loid) co-exposure and potential interaction effects on NTD risk remain unclear. We conducted a case-control study in China among population with a high prevalence of NTDs to investigate the combined effects of PAH and metal(loid) exposures on the risk of NTD. METHODS: Cases included 80 women who gave birth to offspring with NTDs, whereas controls were 50 women who delivered infants with no congenital malformations. We analyzed the levels of placental PAHs using gas chromatography and mass spectrometry, PAH-DNA adducts with ³²P-post-labeling method, and metal(loid)s with an inductively coupled plasma mass spectrometer. Unconditional logistic regression was employed to estimate the associations between individual exposures and NTDs. Least absolute shrinkage and selection operator (LASSO) penalized regression models were used to select a subset of exposures, while additive interaction models were used to identify interaction effects. RESULTS: In the single-exposure models, we found that eight PAHs, PAH-DNA adducts, and 28 metal(loid)s were associated with NTDs. Pyrene, selenium, molybdenum, cadmium, uranium, and rubidium were selected through LASSO regression and were statistically associated with NTDs in the multiple-exposure models. Women with high levels of pyrene and molybdenum or pyrene and selenium exhibited significantly increased risk of having offspring with NTDs, indicating that these combinations may have synergistic effects on the risk of NTDs. CONCLUSION Our findings suggest that individual PAHs and metal(loid)s, as well as their interactions, may be associated with the risk of NTDs, which warrants further investigation.
Humans ; Neural Tube Defects/chemically induced* ; Polycyclic Aromatic Hydrocarbons/adverse effects* ; Female ; Case-Control Studies ; China/epidemiology* ; Adult ; Pregnancy ; Environmental Pollutants ; Maternal Exposure/adverse effects* ; Metals/toxicity* ; Young Adult ; Risk Factors

BACKGROUND: Congenital heart disease (CHD) is a leading cause of birth defect-related mortality. However, more recent CHD mortality data for China are lacking. Additionally, limited studies have evaluated sex, rural-urban, and region-specific disparities of CHD mortality in China. METHODS: We designed a population-based study using data from the Dataset of National Mortality Surveillance in China between 2008 and 2021. We calculated age-adjusted CHD mortality using the sixth census data of China in 2010 as the standard population. We assessed the temporal trends in CHD mortality by age, sex, area, and region from 2008 to 2021 using the joinpoint regression model. RESULTS: From 2008 to 2021, 33,534 deaths were attributed to CHD. The period witnessed a two-fold decrease in the age-adjusted CHD mortality from 1.61 to 0.76 per 100,000 persons (average annual percent change [AAPC] = -5.90%). Females tended to have lower age-adjusted CHD mortality than males, but with a similar decline rate from 2008 to 2021 (females: AAPC = -6.15%; males: AAPC = -5.84%). Similar AAPC values were observed among people living in urban (AAPC = -6.64%) and rural (AAPC = -6.12%) areas. Eastern regions experienced a more pronounced decrease in the age-adjusted CHD mortality (AAPC = -7.86%) than central (AAPC = -5.83%) and western regions (AAPC = -3.71%) between 2008 and 2021. Approximately half of the deaths (46.19%) due to CHD occurred during infancy. The CHD mortality rates in 2021 were lower than those in 2008 for people aged 0-39 years, with the largest decrease observed among children aged 1-4 years (AAPC = -8.26%), followed by infants (AAPC = -7.01%). CONCLUSIONS CHD mortality in China has dramatically decreased from 2008 to 2021. The slower decrease in CHD mortality in the central and western regions than in the eastern regions suggested that public health policymakers should pay more attention to health resources and health education for central and western regions.
Humans ; Heart Defects, Congenital/mortality* ; Male ; Female ; China/epidemiology* ; Infant ; Child, Preschool ; Adult ; Child ; Adolescent ; Infant, Newborn ; Middle Aged ; Young Adult ; Aged ; Rural Population

Humans ; Heart Defects, Congenital/diagnosis* ; Genetic Testing/standards* ; Child ; Consensus ; China

Humans ; Heart Defects, Congenital/therapy* ; Child ; Evidence-Based Medicine ; Cardiac Surgical Procedures/methods* ; Cardiac Catheterization/methods*

OBJECTIVES: To investigate the characteristics and clinical significance of anorectal manometry measurements in children with tethered cord syndrome (TCS) before and after surgery. METHODS: A retrospective study was conducted on 44 children with TCS treated at the Children's Hospital of Zhejiang University School of Medicine from January 2022 to September 2023. These patients were divided into effective subgroup (n=34) and non-effective subgroup (n=10) based on postoperative symptom improvement. Additionally, 34 children with functional constipation were selected as a control group. Baseline data and manometry measurements were compared between the preoperative TCS group and the control group, as well as between the non-effective and effective subgroups. RESULTS: The TCS group had lower short contraction time and defecation relaxation rate compared to the control group (P<0.05), while defecation residual pressure and maximum rectal tolerable threshold were higher than the control group (P<0.05). The length of the anal canal in the high-pressure zone in the effective subgroup was greater postoperatively than preoperatively (P<0.05), and the initial rectal sensation threshold decreased postoperatively (P<0.05). The non-effective subgroup had lower preoperative maximum rectal expulsion pressure compared to the effective subgroup (P<0.05). Postoperative rectal anal inhibition reflex values in the effective subgroup were higher than those in the non-effective subgroup (P<0.05). CONCLUSIONS There are some differences in anorectal dynamics between children with TCS and those with functional constipation. Maximum rectal expulsion pressure may be a key predictor of surgical outcomes. Surgery can alter certain defecation functions in some children.
Humans ; Male ; Anal Canal/physiopathology* ; Female ; Rectum/physiopathology* ; Child ; Child, Preschool ; Retrospective Studies ; Manometry ; Neural Tube Defects/physiopathology* ; Infant ; Defecation ; Adolescent ; Constipation/physiopathology* ; Clinical Relevance