Denovo variants in POGZ and YY1 genes: The novel mega players for neurodevelopmental syndromes in two unrelated consanguineous families.

Novel denovo variants of exome sequences are major cause of pathogenic neurodevelopmental disorders with a dominant genetic mechanism that emphasize their heterogeneity and complex phenotypes. White Sutton syndrome and Gabriele-de-Vries syndrome are congenital neuro-impairments with overlap of severe intellectual disability, microcephaly, convulsions, seizures, delayed development, dysmorphism of faces, retinal diseases, movement disorders and autistic traits. POGZ gene codes for pogo transposable element-derived zinc-finger protein and YY1 gene regulates transcription, chromatin, and RNA-binding proteins that have been associated with White Sutton and Gabriele-de-Vries syndromes, in recent data.

Genetic Heterogeneity in Four Probands Reveals , , and Related Neurodevelopmental Disorders.

: Neurodevelopmental disorders of genetic etiology are a highly diverse set of congenital recurrent complications triggered by irregularities in the basic tenets of brain development. : We present whole exome sequencing analysis and expression characteristics of the probands from four unrelated Pakistani consanguineous families with facial dysmorphism, neurodevelopmental, ophthalmic, auditory, verbal, psychiatric, behavioral, dental, and skeletal manifestations otherwise unexplained by clinical spectrum. : Whole exome sequencing identifies a novel, bi-allelic, missense variant in the gene [NM_152419.

Efficacy of Intraosseous Versus Intravenous Drug Administration in Out-of-Hospital Cardiac Arrest: A Systematic Review and Meta-Analysis.

This meta-analysis compared the efficacy of intraosseous (IO) versus intravenous (IV) drug administration in out-of-hospital cardiac arrest (OHCA). We systematically searched Embase, Web of Science, PubMed, and Cochrane Library through September 20, 2024, for relevant studies. The primary outcome was favorable neurological outcome, with secondary outcomes, including survival to hospital discharge and return of spontaneous circulation (ROSC).

Impact of complete dentures treatment on Oral health-related quality of Life (OHRQoL) in edentulous patients: A descriptive case series study.

Objectives: To evaluate the changes in oral health-related quality of life [OHRQoL] before and three months after complete denture oral rehabilitation using the Geriatric oral health assessment index [GOHAI] in Pakistani elderly edentulous patients.

Methods: In this descriptive case series study a total of 80 edentulous patients were recruited from Islamic International Dental Hospital, Islamabad, Pakistan from November 2021 to April 2022. The OHRQoL was evaluated twice by using the GOHAI- Urdu version.

Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients.

Congenital heart defects (CHD) appear in almost one percent of live births. Asian countries have the highest birth prevalence of CHD in the world. Recessive genotypes may represent a CHD risk factor in Asian populations with a high degree of consanguineous marriages.

Rupture of sinus of Valsalva in a young laborer: A rare case report.

Ruptured sinus of Valsalva (RSOV) upon physical exertion is rare but should be considered in differential in young adults. Symptoms of acute heart failure, hemodynamic instability, and continuous heart murmur raises suspicion for RSOV and requires emergent surgical repair of right ventricular outflow tract.

Efficacy and Safety of Pressure-controlled Intermittent Coronary Sinus Occlusion in STEMI: A Systematic Review and Meta-analysis.

This systematic review will provide a comprehensive assessment of the evidence on PICSO in STEMI patients, and it will help to determine the role of this novel technique in the management of STEMI. The review searched for the relevant articles in the PubMed, Embase, Cochrane Library, and Web of Science databases regarding PC-ICSO. Four cohort studies were eligible to be included in the quantitative analysis.

Comparing clinical and echocardiographic outcomes following valve-sparing versus transannular patch repair of tetralogy of Fallot: a systematic review and meta-analysis.

Objectives: Transannular patch (TAP) repair of tetralogy of Fallot (ToF)relieves right ventricular tract obstruction but may lead to pulmonary regurgitation. Valve-sparing (VS) procedures can avoid this situation, but there is a potential for residual pulmonary stenosis. Our goal was to evaluate clinical and echocardiographic outcomes of TAP and VS repair for ToF.

Laparoscopic excision of a large retroperitoneal cyst: Case report and literature review.

Retroperitoneal cysts, a rare surgical phenomenon, present diagnostic challenges due to their typically asymptomatic nature. A 62-year-old male presented with a 4-month history of abdominal distension and increased burping. Upon clinical examination, a soft, distended, nontender abdomen with a palpable mass extending from the epigastric region to 3 cm below the umbilicus was revealed.

Mortality and Morbidity in Adults With Rheumatic Heart Disease.

Importance: Rheumatic heart disease (RHD) remains a public health issue in low- and middle-income countries (LMICs). However, there are few large studies enrolling individuals from multiple endemic countries.

Objective: To assess the risk and predictors of major patient-important clinical outcomes in patients with clinical RHD.

Assessment of cardiac parameters after the administration of nicorandil before primary percutaneous coronary intervention.

Objective: To assess cardiac troponin I and creatine kinase-myocardial band levels, electrocardiogram changes and major adverse cardiac events after treatment with nicorandil before primary percutaneous coronary intervention.

Methods: The comparative, analytical study was conducted from October to November 2022 at the Pharmacology Department of Army Medical College, National University of Medical Sciences, Rawalpindi, Pakistan, in collaboration with the Rawalpindi Institute of Cardiology, Rawalpindi. The sample comprised ST-elevated myocardial infarction patients of either gender aged at least 30 years with an ejection fraction of at least 35% undergoing primary percutaneous coronary intervention.

Arrhythmogenic right ventricular cardiomyopathy: Unveiling clinical presentations, CMR insights and prognosis in a single-center retrospective study.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a hereditary condition with a prevalence ranging from 1 in 2000 to 1 in 5000 individuals. ARVC is a significant contributor to sudden cardiac death, particularly in young individuals and athletes, and remains challenging to diagnose definitively. We conducted a single-center retrospective study to evaluate the presentations, electrocardiogram findings, and imaging characteristics of ARVC patients evaluated at our center between 2021 and 2023.

Intravascular ultrasound-guided versus angiography-guided percutaneous coronary intervention in acute coronary syndromes (IVUS-ACS): a two-stage, multicentre, randomised trial.

Background: Intravascular ultrasound-guided percutaneous coronary intervention has been shown to result in superior clinical outcomes compared with angiography-guided percutaneous coronary intervention. However, insufficient data are available concerning the advantages of intravascular ultrasound guidance for patients with an acute coronary syndrome. This trial aimed to investigate whether the use of intravascular ultrasound guidance, as compared with angiography guidance, improves the outcomes of percutaneous coronary intervention with contemporary drug-eluting stents in patients presenting with an acute coronary syndrome.

Ticagrelor alone versus ticagrelor plus aspirin from month 1 to month 12 after percutaneous coronary intervention in patients with acute coronary syndromes (ULTIMATE-DAPT): a randomised, placebo-controlled, double-blind clinical trial.

Background: Following percutaneous coronary intervention with stent placement to treat acute coronary syndromes, international clinical guidelines generally recommend dual antiplatelet therapy with aspirin plus a P2Y receptor inhibitor for 12 months to prevent myocardial infarction and stent thrombosis. However, data on single antiplatelet therapy with a potent P2Y inhibitor earlier than 12 months after percutaneous coronary intervention for patients with an acute coronary syndrome are scarce. The aim of this trial was to assess whether the use of ticagrelor alone, compared with ticagrelor plus aspirin, could reduce the incidence of clinically relevant bleeding events without an accompanying increase in major adverse cardiovascular or cerebrovascular events (MACCE).

Hospital Resources and Practice Patterns for Congenital Cardiac Surgery in Pakistan: A Nationwide Status Report.

Low- and middle-income countries such as Pakistan bear the brunt of the global burden of congenital heart disease (CHD), This nationwide study assessed hospital resources and surgical practice patterns pertaining to CHD surgery across Pakistan. A nationwide hospital facility survey was conducted, targeting all health centers performing CHD surgery in Pakistan. Descriptive data analysis was performed, with categorical variables being presented as frequencies and percentages and continuous variables being reported as means and standard deviations.

Global Access to Comprehensive Care for Paediatric and Congenital Heart Disease.

Paediatric and congenital heart disease (PCHD) is common but remains forgotten on the global health agenda. Congenital heart disease is the most frequent major congenital anomaly, affecting approximately 1 in every 100 live births. In high-income countries, most children now live into adulthood, whereas in low- and middle-income countries, over 90% of patients do not get the care they need.

The WATCHMAN Device Review: A New Era for Stroke Prophylaxis.

Atrial fibrillation (AF) is a major risk factor for ischemic stroke, accounting for more than 37 million cases worldwide. In AF, the left atrial appendage (LAA) is the most common site of thrombus formation, and its ligation/closure with the WATCHMAN device is a good alternative to long-term oral anticoagulation, especially in patients with contraindications to warfarin. However, the implantation procedure is associated with various risks and complications.

Radial artery patency outcomes with saline flushing of the radial sheath after coronary intervention: A prospective cohort study.

Objective: The implications of saline flushing of the radial sheath have not been studied in terms of radial artery occlusion. We aimed to investigate radial artery patency outcomes after the saline flush of the radial sheath.

Methods: In this prospective observational study, patients were selected to receive either radial sheath flushing with 10 mL of saline after pulling the sheath to one-third of its length (Group 1) or standard care (Group 2) after removal of the catheter sheath as per physician discretion.

Clinical outcomes of a dedicated bifurcation stent system.

Introduction: Percutaneous coronary intervention (PCI) of bifurcation lesions is technically challenging and associated with higher rates of complications such as stent thrombosis or in-stent restenosis. In this paper, we present the clinical outcomes of BiOSS LIM C (Balton, Poland), a dedicated bifurcation stent.

Methods: In this retrospective single-center study we analyzed the outcome of patients with bifurcation coronary artery disease treated with the BiOSS LIM C stent system.

Health related quality of life in adults after late repair of tetralogy of fallot: experience from a low-middle income country.

Purpose: Without neonatal screening in low middle-income countries like Pakistan, Tetralogy of Fallot (TOF) is a congenital heart disease which frequently remains untreated beyond infancy. The purpose of this study is to determine and assess outcomes and health related quality of life (HRQOL) in patients who undergo complete repair of TOF as adults.

Methods: 56 patients who underwent complete TOF repair after 16 years of age were included.

Recommendations for developing effective and safe paediatric and congenital heart disease services in low-income and middle-income countries: a public health framework.

The global of paediatric and congenital heart disease (PCHD) is substantial. We propose a novel public health framework with recommendations for developing effective and safe PCHD services in low-income and middle-income countries (LMICs). This framework was created by the Global Initiative for Children's Surgery Cardiac Surgery working group in collaboration with a group of international rexperts in providing paediatric and congenital cardiac care to patients with CHD and rheumatic heart disease (RHD) in LMICs.