Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.

Background: Infantile hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder. Apart from registries in high-income nations, there is a shortage of data on the aetiological basis of infantile HCM in low- and middle-income nations. This study attempts to characterise the phenotypic expression, genetic architecture and short-term clinical outcomes of infantile HCM from a South Asian tertiary referral centre.

Recurrence of Primary Disease After Adult Liver Transplant - Risk Factors, Early Diagnosis, Management, and Prevention.

Liver transplantation offers a new lease of life to patients with end-stage liver disease and hepatocellular carcinoma. However, the implantation of an exogenous allograft and the accompanying immunosuppression bring their own challenges. Moreover, the persistence of risk factors for the initial liver insult place the new graft at a higher risk of damage.

Unveiling the therapeutic potential of plant steroid peimine: A study on apoptotic induction in MRMT-1 cell line-induced breast cancer in rats.

Background: Breast cancer stands as a leading contributor to global cancer-related mortality. Progressing Research and Medical Innovations Elevate Treatment Choices and Results for Breast Cancer. Among these, Peimine, a natural steroid inherent in plants, notably within the Fritillaria species, demonstrates the capability to trigger apoptosis in breast cancer cells through the mitochondrial membrane permeation pathway.

AI in ECG: Validating an ambulatory semiology labeller and predictor.

Objectives: Early prediction of epileptic seizures can help reduce morbidity and mortality. In this work, we explore using electrocardiographic (ECG) signal as input to a seizure prediction system and note that the performance can be improved by using selected signal processing techniques.

Methods: We used frequency domain analysis with a deep neural network backend for all our experiments in this work.

Open-heart surgery in preterm infants: A single-center experience.

Background: Open-heart surgery is challenging in preterm neonates and infants, and its feasibility in low-resource settings has not been defined. We describe our institutional experience with open-heart surgeries performed on consecutive preterm infants.

Materials Methods And Results: This was a single-center retrospective cohort from a tertiary hospital in Southern India and included consecutive preterm neonates (<37 weeks) admitted for open-heart surgery.

Distribution and reference values of peripheral perfusion index in neonates from population-wide screening.

Background: Peripheral perfusion index (PPI) is useful in a variety of neonatal settings. Currently, available reference values are from small numbers and highly variable.

Methods: We sought to generate reference values of PPI by analysing previously collected data from newborns who underwent mandated universal pulse oximetry and PPI screening from 2018 to 2021 using uniform protocol and equipment.

A World Update of Progress in Lower Extremity Transplantation: What's Hot and What's Not.

The field of vascularized composite allotransplantation (VCA) is the new frontier of solid organ transplantation (SOT). VCA spans life-enhancing/life-changing procedures such as upper extremity, craniofacial (including eye), laryngeal, tracheal, abdominal wall, penis, and lower extremity transplants. VCAs such as uterus transplants are life giving unlike any other SOT.

Challenges during implant-assisted prosthetic rehabilitation in fibula reconstructed jaws and its management: a scoping review protocol.

Introduction: Oral cancer is the sixth most prevalent cancer type worldwide. Patients are placed in a crippling predicament due to the functional and psychosocial difficulties brought on by the illness and its treatments. Both surgeons and maxillofacial prosthodontists may encounter challenges with reconstruction and therapy following cancer treatment.

Outcomes after surgery for infective endocarditis.

Unlabelled: The role of surgery in infective endocarditis is becoming established the world over. In spite of all recent advances, endocarditis remains a lethal disease following surgery. With the emergence of more difficult-to-treat microorganisms, sicker and older patients with multiple co-morbidities, and an increase in healthcare-associated infections, the need for surgery in the management of infective endocarditis is only bound to increase.

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

The sodium-dependent multivitamin transporter encoded by SLC5A6 is responsible for uptake of biotin, pantothenic acid, and α-lipoic acid. Thirteen individuals from eight families are reported with pathogenic biallelic SLC5A6 variants. Phenotype ranges from multisystem metabolic disorder to childhood-onset peripheral motor neuropathy.

The prowess of metabolomics in cancer research: current trends, challenges and future perspectives.

Cancer due to its heterogeneous nature and large prevalence has tremendous socioeconomic impacts on populations across the world. Therefore, it is crucial to discover effective panels of biomarkers for diagnosing cancer at an early stage. Cancer leads to alterations in cell growth and differentiation at the molecular level, some of which are very unique.

Drug Susceptibility and Mutation Profiles in Mycobacterium tuberculosis Isolates from a Tertiary Care Hospital in Kerala, India.

The rising prevalence of drug-resistant Mycobacterium tuberculosis (MTB) strains poses a significant challenge to global tuberculosis (TB) control efforts. This study aimed to analyze drug resistance patterns and investigate the molecular characteristics of 193 MTB clinical isolates to shed light on the mechanisms of drug resistance. Of the 193 MTB clinical isolates, 28.

The Echocardiographic Diagnosis of Rheumatic Heart Disease: A Review of the Performance of the World Heart Federation Criteria 2012-2023.

Background: The World Heart Federation (WHF) published the first evidence-based guidelines on the echocardiographic diagnosis of rheumatic heart disease (RHD) in 2012. These guidelines have since been applied internationally in research and clinical practice. Substantial research has assessed the utility of the 2012 WHF criteria, including its applicability in low-resource settings.

Four-Dimensional Ultrasound Imaging of Spatial Relationship of Great Arteries in Fetuses With Transposition of Great Arteries.

The great artery relationship in transposition of great arteries (TGA) is based on the degree of resorption and growth of subsemilunar conus. In transposition of great arteries, the spatial relationship of the great arteries can be variable. Commonly, the aorta will be related right and anterior to pulmonary artery (D-TGA).

Surgical treatment of pediatric low-grade glioma in developing countries.

Pediatric low-grade gliomas constitute the most common brain tumors worldwide, though with some peculiarities in the presentation and surgical care in different parts of the world. The symptomatology in developing countries is likely to be over longer periods with a tendency to delayed diagnosis due to cultural, religious beliefs, manpower, and infrastructural deficits. Thus, the children present with large tumors with attendant morbidities and an increased risk of mortalities from surgery.

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome.

Closing the gap between acceptable and ideal in catheterisation for paediatric and congenital heart disease-A global view.

In recent issues of the and the , Holzer and colleagues presented an Expert Consensus Document titled: "" This Expert Consensus Document is a massively important contribution to the community of paediatric and congenital cardiac care. This document was developed as an Expert Consensus Document by the Pediatric and Congenital Interventional Cardiovascular Society, the Association for European Paediatric and Congenital Cardiology, the Asia-Pacific Pediatric Cardiac Society, the Cardiac Society of Australia and New Zealand, the Society for Cardiovascular Angiography and Interventions, and the Latin American Society of Interventional Cardiology, as well as the Congenital Cardiac Anesthesia Society and the American Association of Physicists in Medicine.As perfectly stated in the Preamble of this Expert Consensus Document, "This expert consensus document is intended to inform practitioners, payors, hospital administrators and other parties as to the opinion of the aforementioned societies about best practices for cardiac catheterisation and transcatheter management of paediatric and adult patients with congenital heart disease, with added accommodations for resource-limited environments.

Perceptions of faculty towards online teaching for undergraduate medical education: An interview-based qualitative study.

Background The Covid-19 pandemic drastically affected medical education. One consequence was the shift of teaching-learning process to the online mode. This left many teachers unprepared.