Ticagrelor vs placebo for the reduction of vaso-occlusive crises in pediatric sickle cell disease: the HESTIA3 study.

The phase 3 HESTIA3 study assessed the efficacy and safety of the reversible P2Y12 inhibitor ticagrelor vs placebo in preventing vaso-occlusive crises in pediatric patients with sickle cell disease (SCD). Patients aged 2 to 17 years were randomly assigned 1:1 to receive weight-based doses of ticagrelor or matching placebo. The primary end point was the rate of vaso-occlusive crises, a composite of painful crises and/or acute chest syndrome (ACS). Key secondary end points included number and duration of painful crises, number of ACS events, and number of vaso-occlusive crises requiring hospitalization or emergency department visits. Exploratory end points included the effect of ticagrelor on platelet activation. In total, 193 patients (ticagrelor, n = 101; placebo, n = 92) underwent randomization at 53 sites across 16 countries. The study was terminated 4 months before planned completion for lack of efficacy. Median ticagrelor exposure duration was 296.5 days. The primary end point was not met: estimated yearly incidence of vaso-occlusive crises was 2.74 in the ticagrelor group and 2.60 in the placebo group (rate ratio, 1.06; 95% confidence interval, 0.75-1.50; P = .7597). There was no evidence of efficacy for ticagrelor vs placebo across secondary end points. Median platelet inhibition with ticagrelor at 6 months was 34.9% predose and 55.7% at 2 hours' postdose. Nine patients (9%) in the ticagrelor group and eight patients (9%) in the placebo group had at least one bleeding event. In conclusion, no reduction of vaso-occlusive crises was seen with ticagrelor vs placebo in these pediatric patients with SCD. This trial was registered at www.clinicaltrials.gov as #NCT03615924.

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.

Echocardiographic Evaluations in Sick Neonates in Neonatal Intensive Care Unit: A Clinical Study.

Introduction Echocardiography is pivotal in neonatal care by providing valuable insights into cardiac function, anatomy, and hemodynamics. The ability of echocardiography to guide clinical decision-making is evident in its capacity to influence and change management strategies. Therefore, the goal of the current study was to know the prevalence of heart disease and the association between echocardiographic indications and neonatal outcomes and interventions. Materials and method This prospective cross-sectional study was conducted in the Neonatology Department, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha. Ill neonates admitted to the neonatal intensive care unit (NICU) were selected in a randomized manner, and echocardiography was performed. The decision was made on the indications for echocardiography, the echocardiographic findings, and any modifications to the clinical care. Mean differences were compared using an unpaired Student's t-test. A significant level is defined as a p-value of less than 0.05. Results Of all the ill neonates, heart disease was present in 60 (52.6%) neonates. The most frequent indication for echocardiography was respiratory distress in 39 (34.21%). In neonates with heart disease, 27(45%) had acyanotic heart disease, nine (15%) had cyanotic heart disease, and 24(40%) had miscellaneous heart disease. The mean appearance, pulse, grimace, activity, and respiration (APGAR) score at five minutes in neonates without heart disease was 9.05, and for those with heart disease, it was 8.95, with no statistically significant difference. Out of 114 neonates, the mean NICU stay of neonates without heart disease was 6.59 days, and those with heart disease was 9.95 days with a p-value of 0.0001, hence showing statistically significant differences. Out of all the 114 neonates, 57.89% underwent no intervention, 36.85% underwent medical intervention, and 5.26% underwent surgical interventions. Out of 114 neonates, 101 neonates were discharged, and 13 neonates were dead. Out of the 54 neonates with no cardiac abnormality, 50 (92.59%) were discharged, and four (7.41%) neonates were dead. Out of the 60 neonates with cardiac abnormality, 51 (85%) were discharged, and nine (15%) were dead, with a p-value of 0.203, showing no statistical significance between cardiac abnormality and neonatal outcome. Conclusion Our study emphasizes the pivotal role of echocardiography in the NICU for evaluating ill neonates. The findings underline the significance of early detection and precise diagnostic insights provided by echocardiography, contributing to tailored management strategies. The study highlights the transformative impact of echocardiography on clinical decision-making, facilitating timely interventions and improving overall neonatal care. Echocardiography is essential to improving outcomes for these susceptible newborns in the NICU as we continue to expand our knowledge of neonatal heart health.

Harnessing the Power of Mobile Phone Technology: Screening and Identifying Autism Spectrum Disorder With Smartphone Apps.

Integrating smartphone applications into screening and identifying autism spectrum disorder (ASD) represents a promising and innovative frontier within healthcare. This forward-looking paper examines the current landscape of ASD screening apps, shedding light on their potential advantages and addressing and navigating significant challenges. One of the most compelling aspects of these apps lies in their potential to democratize access to ASD screening, effectively breaking down geographical barriers. By using the widespread availability of smartphones, these apps make it possible for individuals, caregivers, and healthcare providers to engage in early ASD screening from virtually anywhere. This accessibility is especially crucial in underserved areas or regions with limited access to specialized healthcare services. Moreover, these apps offer a degree of objectivity that traditional screening methods may need help to match. By relying on data-driven algorithms and machine learning, they can provide a more impartial assessment of a child's behavior, minimizing the potential for subjective bias. This objectivity, combined with the ability to monitor and assess a child's development over time, empowers caregivers with valuable insights into their child's progress. However, as with any technological advancement in healthcare, integrating smartphone apps for ASD screening is not without its share of ethical and privacy considerations. Ensuring informed consent is obtained, especially when collecting data from children, is complex and critical. Striking the right balance between collecting necessary data and protecting an individual's privacy requires careful thought and transparent communication. Additionally, the "digital divide" represents a challenge that needs to be acknowledged and addressed. Not all individuals and families have equal access to smartphones or the technological literacy required to use these apps effectively. This disparity in access must be considered when developing and implementing app-based screening solutions to prevent exacerbating existing healthcare inequalities. Nevertheless, the future of ASD screening apps holds significant promise. Advancements in technology, including integrating advanced sensors, wearables, augmented reality, and machine learning, can further enhance the accuracy and depth of screening. Interdisciplinary collaboration between researchers, developers, clinicians, and educators is crucial to ensure that these apps are effective, culturally sensitive, and user-friendly. Furthermore, integrating these apps into broader healthcare systems, including electronic health records and telehealth platforms, can streamline the screening process and enable a more seamless transition from screening to diagnosis and intervention.

Fever Unveiling a Hidden Cardiac Condition: A Case of Pediatric Hypertrophic Obstructive Cardiomyopathy.

This case report presents the clinical management of a 18-month-old female child who presented with fever, cough, and cold symptoms for eight days. Despite initial treatment with antipyretic syrup, the persistence of symptoms prompted further evaluation, revealing signs of hypertrophic obstructive cardiomyopathy (HOCM) on echocardiography. The patient was subsequently initiated on beta-blocker therapy and supportive care, leading to clinical improvement and eventual discharge. This case underscores the importance of considering cardiac etiologies in pediatric patients presenting with nonspecific symptoms. It highlights the role of timely diagnosis and multidisciplinary management in optimizing outcomes for affected individuals. Further research and awareness efforts are warranted to enhance diagnostic capabilities and refine treatment strategies for pediatric cardiac conditions like HOCM.

Pediatric Sequential Organ Assessment Score: A Comprehensive Review of the Prognostic Marker in the Pediatric Intensive Care Unit.

Critically ill children admitted to the pediatric intensive care unit (PICU) face a substantial risk of morbidity and mortality, regardless of whether they are in developed or developing countries. To aid in treatment planning, various prognostic scoring systems have been developed to predict the likelihood of morbidity and death in these young patients. While the sequential organ failure assessment (SOFA) score has been validated as an independent risk predictor for adult mortality in cases of confirmed or suspected sepsis, it is not suitable for use in children due to its lack of age normalization. Children in critical condition often exhibit significant deviations from the normal physiological balance of their bodies. These deviations from the typical range of physiological variables can be leveraged to estimate the extent of these variations and create scoring systems. In this context, the pediatric SOFA (pSOFA) score was developed by modifying the original SOFA score and incorporating age-adjusted cutoffs for various bodily systems. The objective of this review is to assess the effectiveness of the pSOFA score in predicting sepsis-related mortality in pediatric patients within the PICU setting.

Hepatitis A Leading to Severe Vitamin A Deficiency and Bitot's Spots in a Three-Year-Old Male Child: A Case Report.

This case presentation details the clinical journey of a three-year-old male child presenting with fever, abdominal distention, and loose stools. The child's symptoms, unresponsive to initial treatment at two hospitals, led to the discovery of elevated liver enzymes and subsequent referral to a tertiary care center. Clinical examination revealed hepatomegaly, abdominal distension, and non-palpable spleen. Laboratory findings confirmed acute hepatitis, prompting further investigation into the child's dietary history and revealing a potential foodborne infection. The child was diagnosed with hepatitis-associated severe vitamin A deficiency, manifested by Bitot's spots on ophthalmic examination. Prompt initiation of antiviral therapy, nutritional supplementation, and supportive care resulted in a positive clinical response, with resolution of symptoms and normalization of liver enzymes. This case underscores the importance of recognizing nutritional deficiencies in the context of infectious diseases, emphasizing the need for a comprehensive approach to patient care. The successful management of this complex case highlights the significance of interdisciplinary collaboration in ensuring optimal outcomes in pediatric patients with overlapping infectious and nutritional etiologies.

Chordae Tendinea Rupture and Pulmonary Valve Vegetation in Pediatric Endocarditis: A Rare Condition.

Infective endocarditis (IE) is a severe yet rare condition in pediatric patients, often presenting with nonspecific symptoms, which can complicate diagnosis. Chordae tendinea rupture and pulmonary valve involvement are uncommon complications of IE, warranting timely recognition and management to prevent further morbidity and mortality. We present a case of a nine-year-old male child with a rare presentation of endocarditis complicated by chordae tendinea rupture and pulmonary valve vegetation. The child presented with a one-month history of abdominal pain, dyspnea, edema, and cough. Initial investigations revealed severe mitral regurgitation (MR) and tricuspid regurgitation (TR), chordae tendinea rupture, and vegetation on the pulmonary valve. Despite antibiotic therapy, the child's symptoms persisted, necessitating transfer to a tertiary care center for advanced cardiac management. Chordae tendinea rupture is a rare but critical complication of endocarditis, leading to significant valvular dysfunction. Pulmonary valve involvement in endocarditis is relatively uncommon, with most cases involving the mitral and aortic valves. Identifying vegetation on the pulmonary valve underscores the importance of comprehensive echocardiographic evaluation in patients with suspected endocarditis, regardless of valve involvement. Management of pediatric endocarditis involves a multidisciplinary approach, including antibiotic therapy and potential surgical intervention. Despite antibiotic therapy, the child continued to experience fever spikes in this case, indicating a potential need for surgical intervention. In conclusion, this case report highlights the rare presentation of chordae tendinea rupture and pulmonary valve vegetation in pediatric endocarditis. Timely diagnosis and appropriate management, including antibiotic therapy and potential surgical intervention, are essential for optimizing outcomes in affected children.

Beyond Boundaries: A Comprehensive Review of Anthropometric Indices in Urban and Rural India.

This comprehensive review examines anthropometric indices in the context of urban and rural India, shedding light on the dynamic interplay between lifestyle, socio-economic factors, and environmental influences on health outcomes. Analyzing indicators such as Body Mass Index (BMI), waist-to-hip ratio (WHR), and mid-upper arm circumference (MUAC), the study reveals distinct disparities between urban and rural populations. While rural areas face the challenges of undernutrition and stunting, urban environments grapple with the escalating prevalence of obesity and non-communicable diseases. The implications for public health underscore the need for tailored interventions, encompassing nutritional education, equitable healthcare access, and lifestyle interventions. The call-to-action advocates for collaborative efforts among policymakers, healthcare professionals, researchers, and communities to implement evidence-based strategies, advocate for policy reforms, and continually monitor anthropometric trends. This review serves as a roadmap for fostering healthier communities in India by addressing anthropometric disparities and steering toward a more equitable and sustainable future.

Rare Coexistence: Pilocytic Astrocytoma With Atypical Teratoid/Rhabdoid Tumor Features in an Infant.

This case report describes the presentation, diagnostic evaluation, and management challenges encountered in an eight-month-old female infant with fever, seizure, and a large cystic brain lesion initially diagnosed as pilocytic astrocytoma but later demonstrating atypical teratoid/rhabdoid tumor (AT/RT) features on histopathological examination-the infant presented with a fever and cold persisting for 10 days, followed by a seizure episode. Laboratory investigations revealed abnormalities, including anemia and leukocytosis. Imaging studies identified a large cystic lesion causing hydrocephalus. Despite initial treatment, the patient continued to experience seizures, prompting surgical intervention. Debulking surgery was performed, resulting in postoperative motor deficits. Subsequent imaging revealed persistent lesions, leading to further surgical intervention with shunt placement. Histopathological examination confirmed pilocytic astrocytoma with features suggestive of AT/RT. Despite counseling regarding poor prognosis and recommendations for chemotherapy, the parents declined further treatment, and the patient was discharged. This case underscores the diagnostic complexity and therapeutic dilemmas associated with rare histological overlaps in pediatric brain tumors, emphasizing the importance of multidisciplinary collaboration and tailored treatment strategies for optimal patient care.

Critical Insights Into Neonatal Hypertension: A Comprehensive Review of Current Understanding and Management Strategies.

Hemodynamic adaptation to the extrauterine environment results in rapid blood pressure (BP) fluctuations during the neonatal period, particularly in premature infants. BP levels in neonates are influenced by several factors, including gestational age, birth weight, and maternal health. Diagnosing neonatal hypertension (HTN) typically requires a thorough diagnostic evaluation. Common etiologies include renal parenchymal disease, umbilical catheter-related thrombosis, and chronic lung disease. Despite the prevalence of HTN-associated factors and risk factors in neonates, management can be challenging. Fortunately, most cases of neonatal HTN resolve over time. This review explores these concepts and highlights the evidentiary gaps that need to be addressed.

A Narrative Review of Scoring Methods in Disseminated Intravascular Coagulation: Evaluating Diagnostic Accuracy and Clinical Utility.

Disseminated intravascular coagulation (DIC) is a critical, life-threatening disorder characterized by widespread activation of the coagulation cascade, leading to microthrombi formation, consumption of clotting factors and platelets, and a paradoxically increased risk of bleeding. Accurate and timely diagnosis is crucial for effective management and improved patient outcomes. This narrative review aims to evaluate the diagnostic accuracy and clinical utility of various scoring systems used to assess DIC. We examine prominent systems, including the International Society on Thrombosis and Haemostasis (ISTH) scoring system, the Japanese Association for Acute Medicine (JAAM) DIC criteria, and other regional or institutional criteria such as the Chinese DIC scoring system (CDSS). The review compares these systems based on their criteria, sensitivity, specificity, and accuracy across different patient populations and discusses their strengths and limitations. Additionally, we explore the impact of these scoring systems on patient management and therapeutic decisions, identify challenges and limitations, and highlight emerging trends and future directions in DIC diagnosis. By providing a comprehensive analysis, this review aims to enhance understanding of DIC scoring methods and inform clinical practice to improve patient care.

Red Cell Pyruvate Kinase Deficiency With Hypertriglyceridemia: A Case Report.

Red cell pyruvate kinase (PK) deficiency is a genetic disorder affecting the enzyme PK in red blood cells. A deficiency in PK leads to hemolytic anemia. Hypertriglyceridemia means elevated levels of triglycerides in the blood. The hypertriglyceridemia disorder can be primary or secondary to an underlying disease. Hypertriglyceridemia with ß-thalassemia major is a known association and is called hypertriglyceridemia-thalassemia syndrome. A four-month-old male child was found to have milky serum. On investigation, there was severe anemia, with triglycerides at 1197 mg/dL and high lactate dehydrogenase (LDH). The child had severe pallor, mild icterus, a dysmorphic face, and splenohepatomegaly. Ophthalmic examination showed lipemia retinitis. The child was treated with medium-chain fatty acid formula feed. Regular blood transfusions, folic acid supplements, and avoidance of salicylate group drugs were advised. The child improved and is doing well. Thus, early diagnosis and treatment can change the prognosis and help maintain a near-normal life for affected infants.

Navigating Pediatric Cor Pulmonale: A Comprehensive Review of Diagnosis and Management.

Pediatric cor pulmonale, characterized by right ventricular dysfunction due to chronic pulmonary hypertension, presents significant diagnostic and management challenges. This comprehensive review delves into this complex condition's etiology, clinical presentation, diagnostic strategies, and management. Key etiological factors include congenital heart defects, chronic lung diseases, and pulmonary vascular disorders. Early diagnosis, facilitated by imaging, hemodynamic assessments, and laboratory investigations, is crucial for effective intervention. Pediatric cor pulmonale management encompasses pharmacological treatments, such as vasodilators, diuretics, and inotropic agents, and non-pharmacological interventions, including oxygen therapy, mechanical ventilation, and surgical options. Long-term follow-up is essential to monitor disease progression and adjust treatment strategies accordingly. Multidisciplinary care involving pediatric cardiologists, pulmonologists, and critical care specialists is paramount to address the multifaceted needs of these patients. The review highlights the importance of early recognition and comprehensive care, offering insights into current best practices and future research and clinical practice directions. Advances in understanding the pathophysiology of pediatric cor pulmonale and emerging therapies promise to improve patient outcomes, underscoring the need for continued collaboration and innovation in this field.

Knowledge, Attitudes, and Perceptions of Medical and Paramedical Students Toward Human Milk Banks and Breast Milk Donation.

Background and objectives Human milk benefits for both mothers and babies are widely acknowledged. Human milk banks (HMBs) are essential in providing newborns who would not otherwise have access to pasteurized and stored human milk. The objective of this research was to investigate the understanding, opinions, and outlooks of medical and paramedical students regarding breast milk donation and the concept of an HMB. Material and methods A total of 398 professional female students specializing in physiotherapy, nursing, and medicine were given an online self-administered questionnaire as part of a descriptive cross-sectional study. Data on the characteristics, HMB knowledge, awareness levels, and attitudes toward HMB and breast milk donation were to be gathered through the questionnaire. Every student's answer to the survey was kept private and confidential. Result According to the survey, 188 students (47.24%) belong to the medical college, 126 students (31.66%) belong to the physiotherapy college, and the remaining 84 students (21.11%) are from the nursing college. A total of 294 students (74.12%) had heard about human milk banking before and received information from health professionals (195 students, 48.99%), the news (67 students, 16.83%), and family and friends (61 students, 15.33%). However, only 224 students (56.28%) are willing to feed their babies with HMB milk in the future. On the other hand, 216 students (54.27%) are ready to donate breast milk to HMB. The majority of students have a favorable opinion of breast milk donation. A staggering 394 students (98.99%) think that donating human milk can save babies. Furthermore, 379 students (95.23%) think that all the nutrients needed for a baby's healthy development are found in human milk. Merely 350 students (87.93%) think that breastfeeding does not result in malnourishment for either the mother or the baby. When there is an excess of milk, the majority of students (378 or 94.97%) think that there is nothing wrong with donating it. Moreover, 312 (80.41%) students are happy to donate milk in the future. A total of 373 students (93.71%) are overjoyed that a sick baby will survive because of their donated milk. Only 100 students (25.12%) will give milk, though, and only to the infants of their friends and relatives, never to complete strangers. Conclusion A dearth of knowledge pertaining to human milk banking is rampant among medical and paramedical female students, yet the gravity of the circumstances remains concealed. Consequently, it is imperative to extensively educate all Indian communities about the concept of human milk banking to gain widespread acceptance. This research sheds light on the issue and promotes scientific knowledge of HMB, as many students are unaware of it.

Weyers Acrofacial Dysostosis: A Case Report.

Weyers acrofacial dysostosis (WAD) is a rare skeletal dysplasia, which is autosomal-dominant, and the clinical symptoms are presented as dental anomalies, polydactyly, nail dystrophy, and short physical stature. It is also termed "Curry­Hall syndrome" and reported to be linked to genetic mutations mapped on chromosome 4p16, the region reported being commonly associated with a similar genetic syndrome, Ellis-van Creveld (EVC) syndrome. Most individuals with EVC have congenital heart abnormalities, most often atrial septal defects, unlike WAD. In this case, a 15­year­old girl presented with onychodystrophy and polydactyly observed in the hands and feet, microdontia, or agenesis of teeth, which were conical in shape, with a short stature. The patient had dystrophy of nails since birth, and physical growth in terms of height did not match the normal growth parameters with respect to age. The patient also had abnormal dentation with conical-shaped teeth, with the rest of the clinical presentations suggestive of WAD.

A Rare Presentation of Edwards Syndrome in a Three-Month-Old Infant: A Case Report.

Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant's condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists. The diagnostic journey involved addressing challenges related to respiratory distress syndrome, bronchiolitis, and cardiac complications. The management approach underscored the significance of individualized care tailored to the patient's unique needs. Genetic counseling played a pivotal role in providing essential support to the family facing the complexities associated with Edwards syndrome. This case report highlights the intricacies of Edwards syndrome and contributes to the ongoing discourse on refining clinical strategies for enhanced care and compassionate support. Additionally, it emphasizes the need for further research to advance our understanding of this condition and guide future interventions.

A Novel Steroidogenic Acute Regulatory Protein (StAR) Mutation Causing Adrenal Insufficiency in a Neonate: A Case Report of a Rare Medical Condition.

Congenital lipoid adrenal hyperplasia is a very rare and severe cause of adrenal insufficiency. It occurs due to a mutation of the steroidogenic acute regulatory protein (StAR), disrupting adrenal steroid biosynthesis. Here, we report a case of a three-week-old female infant with vomiting, failure to thrive, electrolyte imbalance, and generalized hyperpigmentation. The hormonal assay and genetic diagnosis confirmed a mutation in the StAR protein, leading to adrenal insufficiency. Appropriate replacement therapy resulted in the resolution of clinical and biochemical abnormalities. This case is being reported for its rare etiology and diagnostic clues. It can guide clinicians to keep adrenal insufficiency as a differential diagnosis in a neonate presenting with hyperpigmentation and electrolyte disturbance to save lives.

Exploring Unusual Cardiac Complications: Chorda Tendinea Rupture and Pulmonary Valve Vegetation in Infective Endocarditis-A Comprehensive Review.

Infective endocarditis (IE) is a severe infection of the endocardium, frequently involving heart valves, and is associated with significant morbidity and mortality. At the same time, traditional complications of IE, such as valvular dysfunction and embolic events, are well-documented, and uncommon cardiac manifestations, such as chorda tendinea rupture and pulmonary valve vegetation, present unique diagnostic and management challenges. This comprehensive review explores the pathophysiology, clinical presentation, diagnostic strategies, and management approaches for IE's chorda tendinea rupture and pulmonary valve vegetation. Through a detailed examination of the literature and discussion of clinical scenarios, we highlight the importance of recognizing these rare complications and discuss the implications for clinical practice. Additionally, we identify knowledge gaps and propose areas for future research to enhance further our understanding and management of these unusual cardiac complications in IE. This review aims to provide clinicians with valuable insights to improve patient care and outcomes in the challenging setting of infective endocarditis.

Pulmonary Valve Endocarditis With Tetralogy of Fallot: A Comprehensive Exploration.

Infective endocarditis, a fatal infection with rising morbidity and mortality rates among infants and children, is characterized by microbial infection within the endocardium, the inner lining of the heart including heart valves. The heightened susceptibility to infection in children is attributed to pre-existing pathologies, structural defects, and comorbidities. This report details a case of a one-year-old child with tetralogy of Fallot, showcasing isolated pulmonary valve vegetations as a distinctive manifestation of infective endocarditis.