Bronchogenic cyst presenting with respiratory distress in a neonate.

Bronchogenic cysts are considered rare airway anomalies that can have a significant impact on the well-being of infants. In this case report, we present a rare presentation of bronchogenic cyst presenting with early neonatal respiratory distress due to airway and vascular compression. Surgical excision was curative with an excellent prognosis.

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

BACKGROUND: Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardiac morphogenesis as exemplified by TBX1 deficiency caused by point mutations or, more commonly, hemizygosity as part of the 22q11.2 deletion syndrome. The latter genetic lesion, however, is only observed in a proportion of patients with TA, which suggests the presence of additional disease genes. OBJECTIVE: To identify novel genes that cause Mendelian forms of TA. METHODS AND RESULTS: We exploited the occurrence of monogenic forms of TA in the Saudi population, which is characterised by high consanguinity, a feature conducive to the occurrence of Mendelian phenocopies of complex phenotypes as we and others have shown. Indeed, we demonstrate in two multiplex consanguineous families that we are able to map TA to regions of autozygosity in which whole-exome sequencing revealed homozygous truncating mutations in PRKD1 (encoding a kinase derepressor of MAF2) and NRP1 (encoding a coreceptor of vascular endothelial growth factor (VEGFA)). Previous work has demonstrated that Prkd1(-/-) is embryonic lethal and that its tissue-specific deletion results in abnormal heart remodelling, whereas Nrp1(-/-) develops TA. Surprisingly, molecular karyotyping to exclude 22q11.2 deletion syndrome in the replication cohort of 17 simplex TA cases revealed a de novo hemizygous deletion that encompasses PRDM1, deficiency of which also results in TA phenotype in mouse. CONCLUSIONS: Our results expand the repertoire of molecular lesions in chromatin remodelling and transcription factors that are implicated in the pathogenesis of congenital heart disease in humans and attest to the power of monogenic forms of congenital heart diseases as a complementary approach to dissect the genetics of these complex phenotypes.

The effect of school size and class size on school preparedness.

The purpose of the present study was to understand students' school readiness as a function of student and teacher behaviors but also school size and class size using both linear and non-linear analytical approaches. Data came from 21,903 schools distributed across 80 countries as per the 2018 cohort of the PISA database. Results pointed to a preference for the Cusp model in that the relationship between school and class sizes with achievement proved to be best described by the non-linearity of the Cusp catastrophe model. The critical benchmarks were a school size of 801 students and a class size of 27 students for which increases beyond those thresholds were linked to nonlinearity and unpredictability in school readiness. For this reason, we suggest using the cusp catastrophe model from Nonlinear Dynamical Systems Theory (NDST) to understand more fully such complex phenomena.

Teacher Burnout in Saudi Arabia: The Catastrophic Role of Parental Disengagement.

The present study predicts teacher burnout from previous experiences, efficacious beliefs, student achievement, and parental engagement. Data came from the Trends in International Mathematics and Science study (TIMSS 2019) and utilized a random sample of n = 2000 from the Kingdom of Saudi Arabia. It was hypothesized that parental engagement and involvement in school may represent a salient factor in understanding teacher burnout in that if parental disengagement is high, necessary supports and resources available to the teacher are withdrawn. This thesis was tested using the cusp catastrophe with linear negative predictors of teacher burnout being teacher satisfaction, years of experience, teacher efficacy, and student achievement. The role of parental disengagement was verified with critically low levels of parental engagement being associated with abrupt and unpredictable levels of teacher burnout. It is concluded that parental engagement and involvement in schools may provide critical supports that are necessary for teachers to successfully manage their workload.

Profiling Experiences of Bullying in the Elementary School: The Role of Gender.

The purpose of the present study was to profile bullying behaviors in elementary schools in Saudi Arabia. A secondary purpose was to examine differences in bullying behaviors across gender. Participants were 3867 fourth graders who completed surveys during the TIMSS 2019 survey. An 11-item bullying experience scale was utilized with good internal consistency reliability. Data were analyzed using latent class analysis with Mplus 8.9 to identify profiles of bullying experiences. The results indicated the presence of five profiles with levels of low, medium, and high bullying experiences, as well as two profiles with no cyberbullying experiences and medium high and medium low physical and verbal instances of bullying. Gender effects were highly pronounced, with most maladaptive bullying profiles being predominantly male. It is concluded that physical bullying is mainly occupied by males and the levels of cyberbullying are generally low in the elementary school grades. Implications for educational policy can clearly direct the development of support groups and expert counseling for both bullies and victims, staff training for identification and course of action, and the development of standardized school policies when such incidences occur.

Bullying in Middle School: Evidence for a Multidimensional Structure and Measurement Invariance across Gender.

The purpose of the present study was to evaluate the factorial structure of the bullying scale on the Trends in International Mathematics and Science (TIMSS 2019) for eighth graders and evaluate the instrument's invariance across gender so that tests of level between males and females can be conducted. Data came from the 2019 cohort of TIMSS in Saudi Arabia. The 14-item scale was evaluated using three competing models: (a) a unidimensional structure, (b) the International Association for the Evaluation of Educational Achievement (IEA) online, non-online two-factor model, and (c) the Wang et al. (2012) 4-domain bullying taxonomy. Participants were 5567 eighth graders who participated in the 2019 TIMSS study. There were 2856 females and 2711 males. The mean age was 13.9 years. Data were analyzed using Confirmatory Factor Analysis (CFA) and Mplus 8.9. Results indicated that a 4-domain structure including verbal, physical, relational, and online bullying represented the most optimal factor structure of the 14-item bullying measure. Tests of exact measurement invariance for gender originally failed but were then satisfied using the newly recommended "alignment" methodology. Latent mean differences were salient and significant suggesting that levels of bullying across all domains were elevated in males compared to females, contrasting earlier views that different types of bullying are linked to males versus females. Results are discussed in relation to educational policy interventions.

Principal goals at school: evaluating construct validity and response scaling format.

The purpose of the present study was to test the efficacy and appropriateness of the 4-point response option of the Principal's Goals Scale of the SASS (1999-2000) survey. Competing dichotomous models with various conceptualizations were constructed and tested against the original polytomous conceptualization. Participants were 8,524 principals from whom 64% were males and 36% females. Principals' goals were assessed using a 6-item scale anchored across points reflecting proximity to achieving a goal. The original polytomous conceptualization was contrasted to a dichotomous two-pole conceptualization using a model with freely estimated discriminations (two-parameter logistic model, 2PL) as well as the Rasch model assuming equal discrimination parameters. Results indicated that the 2PL dichotomous model provided the most optimal model fit. Furthermore, item-related, and person-related estimates pointed to enhanced accuracy and validity for the dichotomous model conceptualization compared to the polytomous model. It is suggested that a dichotomous scaling system is considered in subsequent measurements of the scale as a means of enhancing the accuracy and validity of the measured trait.

A Cross-Sectional Study on the Prevalence of Self-Prescribed Aspirin Use for Prevention of Adverse Ischemic Vascular Events Among Moderate-Risk Individuals: A Single Center Study.

Introduction Despite the overwhelming amount of evidence against the use of aspirin for primary prophylaxis of cardiovascular disease (CVD), the arguably unwarranted use of aspirin has increased over the years, which may or may not be based on any specific medical advice, and merely self-prescribed. Aim This study aimed to determine the prevalence of unwarranted aspirin use among moderate-risk individuals for the primary prevention of adverse vascular events in Saudi Arabia. Patient and method A cross-sectional study was conducted among 100 patients who presented to the emergency room (ER) due to suspected cardiac diseases. The data were collected from the patients who visited ER in King Fahad Hospital, Al-Hofuf, Saudi Arabia. Participants were asked about their socio-demographic characteristics, aspirin use habits, and their comorbidities. Results Of the 100 patients, 35% were aged more than 60 years old. The overall use of aspirin was 78%. The prevalence of aspirin use was significantly more common among the older age group (53.8%), those with associated chronic diseases, such as diabetes (59%) and hypertension (75.6%) and those with a previous history of hospitalization due to stroke or a cardiac event (66.7%). Conclusion The use of aspirin among patients who are at moderate risk of cardiovascular events was widely prevalent, but their unwarranted use was low. Older patients with chronic diseases who believed in its great benefit and tended to ignore its complications are the most common users of aspirin. More research is recommended to determine the prevalence and the factors associated with unwarranted use of aspirin in patients with CVD in our region.

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

Hereditary forms of cataract are genetically heterogeneous. Mutations in crystallin genes account for most Mendelian forms, but identification of other cataract genes has provided insights into additional molecular mechanisms that control lens transparency. In a multiplex consanguineous family with isolated congenital cataract, we identified a novel autosomal recessive cataract locus on 7q33-q36.1. Exome sequencing revealed a splice-site mutation in AGK, encoding acylglycerol kinase, which we confirm led to aberrant splicing and predicted premature truncation. This is the first mutation in this lipid metabolism gene to be implicated in the development of isolated cataract, although it remains to be seen if the mechanism involves perturbation of lenticular lipid composition or aberrant signaling during lens morphogenesis.

Examining academic performance across gender differently: Measurement invariance and latent mean differences using bias-corrected bootstrap confidence intervals.

The aim of this study was threefold: First, to examine the dimensionality of the construct of General Academic Ability (GAA) at the subscale level providing additional insights over and above on the conceptualization of the construct. Second, to explore different degrees of measurement invariance of the GAA across gender using more recent advancements in the examination of Measurement Invariance (i.e., Bias-Corrected bootstrap Confidence Intervals). Third, to examine gender differences across the different facets of the GAA at the latent mean level. The sample consisted of 1,800 high school graduates who applied for higher education in Saudi Arabia. The results from the analysis indicated that the hierarchical model with one higher-order factor (i.e., general academic ability) and four lower-order cognitive factors (i.e., verbal ability, quantitative ability, scholastic aptitude, and GPA) exhibited an excellent fit to the data. In terms of the measurement invariance hypothesis, it was found that the hierarchical model exhibits full configural and metric invariance and partial scalar invariance. Finally, using the Latent Mean Difference procedure, the results showed gender differences in the Verbal and GPA domains. Although significant differences were also found in the Scholastic aptitude domain, this finding is not stable due to several non-invariant items within the domain. In both cases, females scored higher than males. Finally, regarding the higher-order factor (GAA), the results showed that females scored higher than males. There were no significant differences in the Quantitative domain.

Preference for Visiting Emergency Department Over Primary Health Care Center Among Population in Saudi Arabia.

Introduction Demand for urgent care is increasing, and the pressure on emergency departments (EDs) is of significant concern. Demand growth is to some extent due to the over-utilization of EDs by patients who seek care for non-urgent problems. It has been estimated that up to one-third of all ED visits are non-emergent. In EDs, patients with non-urgent problems are blamed for increased demand, even though most of the patients' reasons for attending EDs are not well studied. The aim of this study is primarily to determine the factors that influence the decision of patients to visit EDs instead of their primary care physician for non-urgent problems. Secondary aim of this study is to assess the level of ED knowledge among the participants.  Methods This is a descriptive, cross-sectional study following a convenient sampling technique conducted through an online questionnaire distributed to the population in Saudi Arabia (SA). The data, which includes sociodemographic data, ER knowledge, the correct definition of ED, cases that ED deals with, and reasons for visiting an ED over a primary health care center (PHC), were collected during August and September 2021. Results Of the 915 respondents, the most common age group was 25 years old or less (34.4%) and the majority were females (68.3%). It was observed that slightly more respondents preferred to visit a PHC (50.4%) while 49.6% preferred to visit EDs when having a medical condition. The proportion of respondents who would visit a PHC was 90.9%, and 36.6% indicated having good experiences there. The overall mean knowledge score was 4.63 (standard deviation [SD] 1.51) out of 6 points, with low, moderate, and high knowledge classified among 12.9%, 22.4%, and 64.7% of respondents, respectively. The five most reported reasons for choosing the ER as the preferred clinic over a PHC were: (1) ED provided quick medical care, (2) easy access to emergency care, (3) unavailability of appointments at a PHC center on the same day, (4) lack of full investigation at the PHC center, (5) lack of primary care providers at the PHC. The least reported reason was advice from another person to visit the emergency department. It was found that a significantly low knowledge was demonstrated by the over 45-years age group (p <0.001) and those who were unemployed (p = 0.018). Conclusion This study showed that 49.6% would prefer to visit the ED. It demonstrated the reasons for choosing the ED over a PHC, with the most reported reason being that the ED provides quick medical service, while the least reported reason was advice from another person to visit the ED. For the correct utilization of EDs, it is recommended to increase the knowledge and awareness level of the general population through public campaigns and awareness videos on social media applications.

Primary pulmonary arterial hypertension and autoimmune polyendocrine syndrome in a pediatric patient.

Both primary pulmonary artery hypertension (PPAH) and autoimmune polyendocrine syndrome (APS) are rare disorders in children. We report a boy who was diagnosed with severe PPAH at 12 years of age. He was treated with prostacyclin for 6 years, briefly with adjunct bosentan, and eventually sildenafil was added. Six years later, after his diagnosis of PPAH, he developed APS in the form of hyperthyroidism and type 1 diabetes mellitus. No mutations were identified through genetic testing of bone morphogenetic protein receptor type II and the autoimmune-regulator gene. To our knowledge this is the first description of the combination of these two extremely rare diseases in a child.

Native valve fungal endocarditis caused by Aspergillus fumigatus: management dilemma.

Fungal endocarditis (FE) accounts for ~50% of the mortality rate associated with predisposing host conditions. Despite optimal therapeutic strategies, the survival rate remains low. FE is mostly caused by Candida albicans and Aspergillus fumigatus. Previous valvular surgery is the most essential risk factor for Aspergillus endocarditis, which observed in 40-50% of cases. However, native valve FE caused by Aspergillus is uncommon, with only a few reported cases. We hereby report a case of native valve FE caused by A. fumigatus with complications following Wegener's disease and prostate cancer. The patient survived after successful management with the combination of surgical and medical therapy. Aspergillus endocarditis is a rare and fatal fungal infection. Despite difficulties in diagnosis and treatment, medical intervention with antifungal therapy and immediate surgical intervention are essential to achieve desirable outcomes.

Do We Need More Than a Transthoracic Echocardiography When Evaluating Children with Congenital Heart Disease before Cardiac Surgery?

AIM: To determine if a transthoracic echocardiography (TTE) can be used as the sole diagnostic imaging modality to evaluate children with congenital heart disease (CHD) undergoing cardiac surgery. METHODS: A retrospective study was carried out at the King Abdulaziz Cardiac Center. We reviewed all pediatric patients who underwent cardiac surgery during the period January 2011 to December 2011. RESULTS: Three hundred ninety-two pediatric patients with CHD fulfilled the inclusion criteria. Of these patients, 287 (73%) underwent surgical interventions based on a TTE alone, while 105 (27%) required additional diagnostic imaging modalities, including a cardiac catheterization (68/105; 65%), cardiac computed tomography angiography (36/105; 34%), or cardiac magnetic resonance imaging (1/105; 1%). A TTE was not enough for all the patients who underwent a cardiac catheterization to find out additional anatomical information (22%), either to directly measure pulmonary artery pressures (62%) or to study vascular reactivity in patients with pulmonary hypertension (16%). Of 36 patients who underwent a cardiac computed tomography angiography, five (14%) had additional information to be added to TTE findings. Of all the patients, 81% had enough information using only the TTE compared to 19% in whom the TTE was not enough to provide all needed information. Only (7/392; 1.8%) patients had additional minor intraoperative findings that did not affect the surgical decision. CONCLUSION: Despite the emergence of other imaging modalities, a TTE can be used as the sole diagnostic imaging modality for a preoperative assessment in the majority of children with CHD. Other imaging modalities can be employed with limited indications.

Bilateral superior vena cava with right superior vena cava draining into left atrium.

Anomalies of systemic venous return are extremely heterogeneous congenital malformations with variable ranges from completely normal physiology to severe forms of right to left shunting requiring surgical treatment. Anomalous drainage of a right-sided superior vena cava (SVC) to the left atrium (LA) is one of the rarest variants of systemic venous return anomalies, characterized by right-to-left shunt physiology and cyanosis. Here we report a 2 years old girl presented with cyanosis which was observed shortly after birth by her parents but not further investigated. She is otherwise active girl and with normal growth and development. Her clinical examination was unremarkable apart from mild clubbing of the fingers and low oxygen saturation of 88-90% in room air. Her ECG and chest X-ray were unremarkable. Echocardiography showed bilateral SVC connected by a small innominate vein. The right SVC drains directly into the LA while the left SVC drains into the right atrium (RA) via a dilated coronary sinus. There is a small superior sinus venosus type atrial septum defect (ASD) with left to right shunt. Also, there is partial anomalous pulmonary venous return with right upper and right middle pulmonary veins draining directly into the right SVC, which is connected to LA. The right lower pulmonary vein and left pulmonary veins drain directly to LA. The rest of her echocardiography demonstrated normal heart structures and function. This patient was referred for surgical correction, including baffling of the right SVC to the RA and closure of the ASD. We describe this case to highlight the importance of recognizing this rare anomalous systemic venous connection as one of the very rare causes of cyanosis in the pediatric age group as well as at older age.

A randomized, double blind pilot study to assess the effects of losartan vs. atenolol on the biophysical properties of the aorta in patients with Marfan and Loeys-Dietz syndromes.

BACKGROUND: Patients with Marfan (MFS) and Loeys-Dietz (LDS) syndromes have been shown to have abnormal aortic biophysical properties. The purpose of this study was to compare the effects of 12-months of therapy with atenolol or losartan on vascular function in young patients with MFS and LDS. METHODS: Seventeen patients with MFS or LDS were recruited and randomized to treatment with atenolol, 25-50mg, or losartan, 25mg daily. Prior to treatment and following therapy, echocardiography for left ventricular size, function and aortic root size was performed. Pulse wave velocity (PWV), input (Zi, ZiF) and characteristic (Zc, ZcF) impedances, arterial stiffness (Ep and ß-index), total arterial compliance (TAC), mean (Wm) and total (Wt) hydraulic power, efficiency, power cost per unit of forward flow (Wt/CI) and brachial artery flow-mediated dilation (FMD) were measured. RESULTS: The atenolol group consisted of 9 females (17.6years) and the losartan group 7 males and 1 female (17.0years). Their height, weight, BSA, BMI, systolic and diastolic blood pressures were similar. Baseline to 12-month changes for atenolol and losartan were PWV (20% vs -14%), Zi (-2% vs -27%), Zc (-20% vs -27%), Ep (1%, vs -13%), ß-index (10% vs 14%), FMD (11% vs 20%), TAC (3% vs 42%), Wm (-24% vs 15%), Wt (-24% vs 17%), and Wt/CI (3% vs 21%). There was a trend for losartan to decrease PWV and stiffness indexes while atenolol decreased power and power/unit flow. CONCLUSION: This pilot study suggests that atenolol and losartan may have different mechanisms of action on vascular function. A larger clinical trial is needed to confirm these effects.Clinical trials registration NCT00593710 (ClinicalTrials.gov).

Closure of a large perimembranous ventricular septal defect in a 4.8 kg baby with Down syndrome using a duct occluder.

A 9.5-month-old boy with Down syndrome, weighing 4.8 kg, presented with history of failure to thrive. Clinically, he had symptoms and signs of congestive heart failure. His echocardiogram showed a large perimembranous ventricular septal defect (pmVSD) with some inlet extension covered by a large aneurysmal tissue with multiple right ventricular (RV) exits. Additionally, he had hypothyroidism and Hirschsprung disease. Instead of closing the VSD surgically, the VSD was successfully closed utilizing an 8 × 6 mm duct occluder. The baby remained in the intensive care unit for one night. The day after the procedure, the infant was stable and showed clinical improvement. Electrocardiogram (ECG) showed normal sinus rhythm with no evidence of heart block. Twenty-four hours later, echocardiography showed the device was in an excellent position, with a small residual leak. There was normal tricuspid valve inflow and normal aortic valve outflow with no significant valvar insufficiency. The baby was discharged after 3 days in stable condition. We believe infants with such co-morbidities which might complicate their post-operative course and prolong the intensive care unit admission, might benefit from such alternative management.

Longitudinal right ventricular function is a better predictor of right ventricular contribution to exercise performance than global or outflow tract ejection fraction in tetralogy of Fallot: a combined echocardiography and magnetic resonance study.

AIMS: The contribution of the systolic function of the right ventricular (RV) outflow tract (RVOT) and of longitudinal shortening of the body of the right ventricle to global RV systolic function and exercise capacity in patients after tetralogy of Fallot (TOF) repair is unclear. Our aim was to characterize the functional role of the RVOT and to identify the most suitable method of assessing RV systolic function in clinical practice. METHODS: The cardiac magnetic resonance (CMR) studies, echocardiograms, and medical records of 50 consecutive patients with repaired TOF who underwent CMR were reviewed. The volumes of the RVOT and of the remainder of the RV were measured separately. Echocardiographic RV strain measurements based on ultrasound speckle tracking were collected. RESULTS: After excluding the akinetic RVOT, RVEF was statistically higher (47.1 vs. 45.0%, P< 0.0001) but the average increase in EF was small. The correlations of fractional area change and global longitudinal strain, both by echocardiography, with global RVEF were moderate (r= 0.59, P= 0.0001 and r= 0.56, P= 0.0004, respectively). The correlation between RVEF and predicted maximal oxygen consumption (VO(2)max-predicted) was weak, regardless of whether the akinetic RVOT was included or not (r= 0.33, P= 0.049 and r= 0.36, P= 0.03, respectively). Of all imaging parameters, echocardiographic RV longitudinal strain correlated best with VO(2)max-predicted (r= 0.66, P= 0.0001). CONCLUSIONS: In patients following TOF repair, echocardiographic and CMR descriptors of global RV systolic function are, at best, weak predictors of exercise tolerance. Longitudinal function of the RV, measured remotely from the RVOT, may be a more important determinant of exercise performance than global RVEF in patients with aneurismal RVOTs.

Can simple echocardiographic measures reduce the number of cardiac magnetic resonance imaging studies to diagnose right ventricular enlargement in congenital heart disease?

BACKGROUND: Right ventricular (RV) enlargement is used as a criterion for the treatment of RV outflow tract dysfunction in patients with congenital heart disease. Although RV volumes are most accurately measured by cardiac magnetic resonance (CMR), CMR is a limited resource. The aim of this study was to investigate whether simple echocardiographic measurements can adequately predict RV volumes below clinical thresholds, thereby reducing the need for CMR in some patients. METHODS: Children with repaired tetralogy of Fallot, double-outlet right ventricle, or truncus arteriosus who underwent CMR and echocardiography within a 4-week interval were retrospectively studied. From the four-chamber view, indexed RV lateral wall length, indexed RV end-diastolic perimeter length, and indexed RV end-diastolic area (RVEDAi), were measured. Results were compared with CMR indexed RV volume. The sensitivity and specifity of echocardiographic threshold values predicting RV volumes < 170 mL/m(2) were determined. RESULTS: Fifty-one children (mean age, 12.7 ± 3.5 years; 25 male, 26 female) were reviewed. RVEDAi was correlated with CMR indexed RV volume (r = 0.60, P < .0001). Indexed RV end-diastolic perimeter length and indexed RV lateral wall length were not correlated with CMR. RVEDAi < 20 cm(2)/m(2) had 100% specificity to predict indexed RV volume ≤ 170 mL/m(2) (area under the curve, 0.79), reducing the need for CMR in 15 of 51 patients (29%). A threshold RVEDAi of 22 cm(2)/m(2) would reduce the need for CMR in 21 of 51 patients (41%) at the expense of one false-negative result. The coefficients of variation were 14.7% for intraobserver variability and 9.6% for interobserver variability. CONCLUSIONS: The specificity of echocardiography-measured RVEDAi can be set to predict RV volumes below a 170 mL/m(2) threshold in 100% of cases. This may reduce the need for CMR to determine RV volumes in ≥25% of patients with congenital heart disease, potentially reducing patient burden and costs.

Bovine aortic arch in association with double inlet left ventricle and pulmonary atresia: a novel association.

We report a newborn male who was diagnosed with a double inlet left ventricle with pulmonary atresia antenatally. Postnatally, it was difficult to determine his arch anatomy echocardiographically. Therefore, he underwent three-dimensional computed tomography angiography, which confirmed the echocardiographic findings and demonstrated a bovine aortic arch. He additionally had a single coronary artery. To our knowledge, the association of a single ventricle with a single outlet of bovine morphology is novel.