Ronald Ross: Pioneer of Malaria Research and Nobel Laureate.

Sir Ronald Ross, a British medical doctor and researcher, is renowned for his pioneering work in malaria research. His discovery of the malaria parasite's lifecycle within mosquitoes revolutionized the understanding and control of malaria, transitioning the field from the miasma theory to vector-based strategies. This literature review aims to explore the comprehensive contributions of Ronald Ross to malaria research and their enduring impact on public health.

Arteriovenous Malformation of the Superficial Femoral Artery: A Case Report.

Peripheral arteriovenous malformations (AVMs) are rare vascular anomalies characterized by abnormal connections between arteries and veins that bypass the capillary system. This case report details a three-year-old female child who presented with an enlarging swelling on her knee's medial side. AVM was diagnosed using computed tomography (CT) angiography and surgically excised. The case highlights the importance of early detection and timely intervention of AVMs to prevent complications.

Study of Clinicoetiological Spectrum of Bicytopenia and Pancytopenia in Hospitalized Children.

Background The etiological profile of children with bicytopenia and pancytopenia has a very wide spectrum, ranging from transient causes like infections or nutritional deficiencies to bone marrow failure syndromes. Timely diagnosis and treatment impart favorable prognosis to this entity. There is a paucity of data regarding the etiology of cytopenia in hospitalized children at a tertiary center in India. Additionally, only a few studies have discussed the possible association between the severity of cytopenia at presentation and the possible etiology. Methods This is a cross-sectional observational study analyzing bicytopenia and pancytopenia in hospitalized children. Patient details, along with clinical findings and relevant investigations, were recorded on predesigned pro forma and analyzed statistically. Results Out of 202 children, 174 (86.13%) had bicytopenia, and 28 (13.86%) had pancytopenia, with a male predominance resulting in a male-to-female ratio of 1.65:1. The commonest age group affected was pre-adolescent age group (6-12 years). The causes of bicytopenia and pancytopenia in hospitalized children in the decreasing order of frequency were infections (65.84%), benign hematological disorders (18.81%), systemic illness (10.39%), and malignancies (4.95%). The cytopenia was more severe in children with pancytopenia than bicytopenia. Conclusions Infections outweigh the other causes of bicytopenia and pancytopenia. The severity of the cell line affected can help narrow down a diagnosis of cytopenia etiologies. Most of the children with bicytopenia and pancytopenia had treatable etiology and favorable outcomes.

Basilicata-Akhtar Syndrome: Unraveling an Ultrarare Cause of Developmental Delay.

There is still more to learn about the etiology of extremely uncommon developmental disorders. A heterozygous or hemizygous pathogenic variation in male-specific lethal 3 (MSL3) causes the uncommon X-linked condition known as Basilicata-Akhtar syndrome, which is characterized by a global developmental delay that is evident from infancy, feeding difficulties, and muscle hypotonia. Thus far, over 40 cases have been documented. Here, we report the first case of Basilicata-Akhtar syndrome in India. A 3-year-old boy presented with global development delay. Physical examination revealed dysmorphism and hypotonia. After whole exome sequencing, exon 8 of the MSL3 gene on chromosome X showed evidence of a hemizygous single base pair deletion.

Advances in Type 1 Diabetes Mellitus Management in Children.

Recent advancements in the management of type 1 diabetes mellitus (T1DM) have significantly improved outcomes and quality of life for patients, particularly children. Technological innovations, such as continuous glucose monitoring (CGM) systems and insulin pump therapy, including hybrid closed-loop systems, have enhanced glycemic control by providing real-time data and automated insulin delivery. Ultrarapid-acting insulins and adjunctive pharmacotherapies, like sodium-glucose transport protein 2 (SGLT2) inhibitors and glucagon-like peptide 1 (GLP-1) receptor agonists, offer improved postprandial glucose management and reduced insulin requirements. Immunotherapy and beta-cell replacement therapies, including stem cell research and encapsulation devices, aim to preserve or restore endogenous insulin production. Digital health platforms and telemedicine have expanded access to education and support, fostering better self-management. Future directions in precision medicine, artificial intelligence, and microbiome research hold promise for personalized and potentially curative treatments. Collectively, these advances are transforming T1DM management, reducing disease burden, and enhancing the prospects for children with T1DM.

Clinical Profile of Neurodevelopmental Disorders in Children at a Tertiary Care Center.

Background Neurodevelopmental disorders (NDDs) encompass intricate interactions among genetic, brain, cognitive, emotional, and behavioral processes. These disorders, which are influenced by hereditary and environmental factors, impair personal, social, intellectual, or occupational functioning. Typically emerging early in life, NDDs include conditions such as attention deficit hyperactivity disorder (ADHD), intellectual disability, autism spectrum disorders (ASDs), vision and hearing impairments, motor disorders, and specific learning disabilities. Children from impoverished and low-income neighborhoods are particularly vulnerable. The lack of comprehensive health data and public awareness about these conditions results in limited information regarding the prevalence of neurological illnesses in developing countries. India, with its large and ethnically diverse population, exemplifies this gap. Methods It is a prospective study to detect the prevalence and risk factors of neurodevelopmental disorders in children aged six months to nine years at a tertiary care center. Patient details, clinical findings, and relevant history were recorded on a pre-designed pro forma and analyzed statistically. Results Among the 1000 children in the study, 91 (9.1%) tested positive for NDDs. Among the 91 children who tested positive for NDD, the highest frequency is in the three to four years age group (17.6%), males were found to be in a higher ratio with 75.82%, with the male: female ratio being 3:1. Among the 91 children with NDD, intellectual disability was the most common disorder (20.9%), followed by ADHD (17.6%) and vision impairment (14.3%). Autism spectrum disorders, including autism and Asperger syndrome, and communication disorders, including stuttering and speech disorders, accounted for 13.2% each. Hearing loss was seen in 9.9% of children and multiple disorders were seen in 8.8% of the children from among 91 children. Conclusion Neurodevelopmental disorders are common and often coexist with other conditions. Children from low-income backgrounds are more affected. This study provides valuable insights into the prevalence and characteristics of NDDs in a specific population.

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report.

A class of genetically based congenital myopathies known as nemaline myopathies is defined by the development of nemaline rods within muscle fibers. We present a case involving an eight-year-old boy who presented with a history of delayed motor development, proximal muscle weakness, and neck flexor weakness. Muscle enzymes were normal, and electrophysiological studies revealed a myopathic pattern. Nemaline myopathy (NM) was diagnosed with the help of clinical exome sequencing, which showed a compound heterozygous mutation with a novel variant in the nebulin (NEB) gene.

Clinical Management of Hydrops Fetalis in a Premature Neonate in India: A Case Report.

Hydrops fetalis has classically been defined as the presence of extracellular fluid in at least two fetal body compartments. This fluid collection includes skin edema (> 5 mm thickness), pericardial effusion, pleural effusion, and ascites. Here we present a case of a 29-year-old female with antenatally diagnosed severe hydrops fetalis which was postnatally successfully managed. Despite recent advances, immune hydrops are still a challenge for healthcare workers in third-world nations.

Novel Lipopolysaccharide-Responsive Vesicle Trafficking, Beach- and Anchor-Containing (LRBA) Gene Mutation Identified in a Pediatric Patient: A Case Report.

Homozygous mutations in the lipopolysaccharide-responsive vesicle trafficking, beach- and anchor-containing (LRBA) gene lead to a syndrome characterized by early-onset hypogammaglobulinemia, autoimmunity, lymphoproliferation, and inflammatory bowel disease. This report describes a 10-year-old female who experienced three seizure episodes, including two generalized tonic-clonic seizures (GTCS) and one focal seizure, alongside septic shock. The patient had a history of recurrent respiratory tract infections, inflammatory bowel disease, multiple blood transfusions, lymphadenopathy, significant organomegaly, and hematological abnormalities, all consistent with an LRBA deficiency. This case highlights the critical need for prompt recognition and identification of LRBA gene mutations to enable timely management and improve patient outcomes.

Early-Onset Takayasu Arteritis in Childhood: A Case Report.

Takayasu arteritis is a chronic, idiopathic, inflammatory disease mainly affecting medium and large vessels with a significant rate of morbidity and mortality. The vessels most frequently affected are the aorta and its branches; branches originating from the aortic arch include right brachiocephalic trunk and its branches, left common carotid artery, left subclavian artery, coronary arteries from the ascending aorta, celiac trunk, right and left renal arteries, superior and inferior mesenteric arteries from the descending aorta, and right and left iliofemoral arteries. Local and systemic inflammation along with end organ ischemia is attributed to severe clinical manifestations associated with this condition. Although Takayasu arteritis is more commonly diagnosed in adults, this study highlights the unusual occurrence of childhood-onset Takayasu arteritis (TAK), presenting a unique set of diagnostic challenges. We present a case of a seven-year-old female patient who manifested atypical symptoms, such as absent pulses and malignant hypertension at an early age, leading to a delayed diagnosis. The patient's clinical course, including diagnostic workup and imaging studies such as CT or MR angiography, is thoroughly discussed. This study emphasizes the importance of recognizing the subtleties of Takayasu arteritis in children. The disease may initially masquerade as other common conditions, such as peripheral arterial disease, coarctation of aorta, renal artery stenosis, chronic renal disease, and increased intracranial pressure, thereby hindering timely diagnosis and appropriate intervention. This case underscores the importance of considering Takayasu arteritis as a differential diagnosis in children, presenting with unexplained constitutional symptoms or signs of systemic vasculitis, emphasizing the need for multidisciplinary collaboration and tailored therapeutic intervention to optimize the outcome in this rare and potentially debilitating condition.

Congenital Absence of Patella: A Case Report.

Congenital absence of patella is a rare orthopedic condition characterized by an underdeveloped or complete lack of patella. This condition is very rare in isolation and is usually accompanied by other genetic syndromes. The prevalence is difficult to estimate as very few cases of this condition have been reported worldwide. Here, we report a case of congenital bilateral absence of patella in an 18-month-old female child who came with a chief complaint of inability to stand and walk without support, with hyperextension at the knee joint with no other associated abnormalities. The patient was started with active and resisted physiotherapy sessions that alleviated the condition of our patient.