A Study of the Clinical Profile of Iron Deficiency Anemia in Children With Sickle Cell Disease in a Tertiary Care Center.

Background Sickle cell disease (SCD) and iron deficiency anemia (IDA) are significant global health concerns, particularly in pediatric populations. This study investigates the prevalence, clinical impact, and management challenges of IDA in children with SCD. Methods A prospective observational study was conducted at the Department of Pediatrics, Jawaharlal Nehru Medical College(JNMC) and Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, from June 2022 to May 2024.

Deciphering the Complexities of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) Mutation: A Case of Intractable Epilepsy in a Five-and-a-Half-Month-Old Male.

If the sodium voltage-gated channel alpha subunit 1 () gene, which encodes Nav1.1 protein, undergoes pathological mutation, it results in a wide range of epileptic syndrome, including febrile seizure, genetic epilepsy with febrile seizure plus (GEFS+), and developmental and epileptic encephalopathy (DEE), including Dravet syndrome. We present the case of a five-and-a-half-month-old boy with gene-related epileptic seizures, starting as focal seizures and progressing to generalized tonic-clonic seizures.

A Study of Clinical Profile of Congenital Anomalies of Kidney and Urinary Tract (CAKUT) in a Tertiary Care Center.

Background  Congenital anomalies of the kidney and urinary tract (CAKUT) encompass a diverse array of disorders arising from developmental irregularities in the renal parenchymal development, disrupted embryonic migration of the kidneys, and the urinary collecting system. This study aimed to investigate the clinical presentations, patterns of obstructive and non-obstructive CAKUT, and associated extrarenal manifestations in affected children. Methods This observational study was conducted in the Department of Pediatrics, Acharya Vinoba Bhave Rural Hospital, Wardha.

Successful Surgical Management of a Ruptured Intracranial Aneurysm in a Nine-Month-Old Male: A Rare Pediatric Case.

Intracranial aneurysms in pediatric populations are rare, with a distinct clinical profile compared to adult cases. This case report describes the clinical presentation, diagnosis, and treatment of a nine-month-old male with an intracranial aneurysm. The child presented with convulsions, a depressed sensorium, and subsequent neurological deficits.

Complex Congenital Anomalies: A Case Report of Left Pulmonary Hypoplasia, Absent Left Pulmonary Artery, and Congenital Heart Disease in an 11-Month-Old Male Child.

A rare disorder called pulmonary hypoplasia is characterized by inadequate lung development, which frequently results in respiratory dysfunction and other related abnormalities. We present a case of an 11-month-old male child with left lung hypoplasia, absent left pulmonary artery, and ventricular septal defect (VSD). The child exhibited symptoms of cough and cold, with a history of recurrent respiratory tract infections since birth.

Unraveling the Spectrum: A Comprehensive Review of Autism Spectrum Disorder in India.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social interaction, communication difficulties, and repetitive behaviors that profoundly impact the lives of affected individuals and their families. This article provides a comprehensive overview of ASD, focusing on screening, diagnosis, and intervention strategies. Early signs of ASD can manifest in infancy, but parents may not recognize them until their child falls behind in meeting social milestones.

Rare Case of Growth Hormone Insensitivity Syndrome Correlated With Hypothyroidism: A Case Report.

Growth hormone insensitivity syndrome (GHIS) is a rare genetic disorder characterized by short stature due to the body's inability to effectively utilize growth hormone (GH). This case report describes a patient with concurrent hypothyroidism and GHIS. This patient is an 11-year-old female presented with short stature; general examination suggested a prominent forehead and a depressed nasal bridge.

Concurrently Affected by Dengue and Hepatitis A: Exploring the Intricacies of Co-infection in a Comprehensive Case Series.

Based on the examination of four distinct cases, this case series offers a thorough investigation of the intricate relationship between dengue fever and hepatitis A infection. Despite their distinct origins, both illnesses manifest overlapping clinical features, posing considerable diagnostic hurdles, particularly in endemic regions. The cases reveal consistent symptoms such as elevated fever, abdominal discomfort, jaundice, and irregular liver function test results, underscoring the intricate nature of an accurate diagnosis.

A Comprehensive Review of Innovative Paradigms in Microbial Detection and Antimicrobial Resistance: Beyond Traditional Cultural Methods.

Microbial detection and antimicrobial resistance (AMR) surveillance are critical components of public health efforts to combat infectious diseases and preserve the efficacy of antimicrobial agents. While foundational in microbial identification, traditional cultural methods are often laborious, time-consuming, and limited in their ability to detect AMR markers. In response to these challenges, innovative paradigms have emerged, leveraging advances in molecular biology, genomics, proteomics, nanotechnology, and bioinformatics.

Unmasking the Rarity: A Case Report on Type B Lactic Acidosis in Pediatric Acute Lymphoblastic Leukemia.

Acute lymphoblastic leukemia (ALL) is the most prevalent pediatric malignancy, accounting for approximately 25% of childhood cancers. Despite significant advancements in treatment protocols, ALL remains a complex disease, often presenting with various complications, including the rare metabolic disturbance of type B lactic acidosis. This case report details the clinical journey of a 14-year-old female with ALL who developed type B lactic acidosis during treatment.

Unlocking Vitality: A Comprehensive Review of Vitamin D's Impact on Clinical Outcomes in Critically Ill Children.

This comprehensive review explores the multifaceted role of vitamin D (VD) in critically ill children, examining its implications for clinical outcomes. Although this substance has long been known for its function in maintaining bone health, it is now becoming more widely known for its extensive physiological effects, which include immune system and inflammation regulation. Observational research consistently associates VD levels with outcomes like duration of hospitalization, mortality, and illness severity in critically ill pediatric patients.

Complex Presentation of Congenital Heart Block and Coexisting Congenital Heart Disease in a One-Year-Old Girl: A Case Report.

Congenital complete heart block (CCHB) is a rare and potentially life-threatening condition, often associated with maternal autoantibodies. We present the case of a one-year-old girl with recurrent respiratory symptoms, ultimately diagnosed with CCHB and congenital heart disease. She exhibited bradycardia and signs of congestive heart failure.

Sprengel's Deformity: A Paediatric Case Report.

Sprengel's deformity is a conspicuous anomaly, affecting one or both scapulas. The congenital elevation of the scapula is frequently accompanied by additional anomalies, such as rib, vertebral, or muscular deformities, among which are rib fusion or vertebral deformity. Defects in the cervical vertebrae are most likely to result in Klippel-Feil syndrome, which is characterised by a short neck, restrictions on head mobility, and low-growing neck hair.

Beyond the Norm: A Report of a Rare Case of Sodium Channel 8 Alpha (SCN8A) Gene-Related Epilepsy Unveiled in a Nine-Year-Old Child.

Sodium channel 8 alpha (SCN8A) mutations encompass a spectrum of epilepsy phenotypes with diverse clinical manifestations, posing diagnostic challenges. We present a case of a nine-year-old male with SCN8A gene-associated developmental and epileptic encephalopathies (DEEs), characterized by generalized tonic-clonic seizures (GTCS) since infancy. Despite treatment with multiple antiepileptic drugs (AEDs), including phenytoin, valproate, levetiracetam, carbamazepine, and clobazam, seizure control remained elusive, prompting genetic testing.

Navigating Complexity in Mandibular Condyle Aplasia and Temporomandibular Joint Ankylosis in a Five-Year-Old Child: A Case Report.

Mandibular condyle aplasia and temporomandibular joint (TMJ) ankylosis represent complex challenges in diagnosis and management, affecting jaw function and facial aesthetics. This case report presents a five-year-old female child with a right-sided small jaw and facial asymmetry due to left-sided TMJ ankylosis. The coexistence of mandibular condyle aplasia and TMJ ankylosis underscores the need for comprehensive evaluation and tailored treatment approaches.

Beyond Skin Deep: A Case Report of Infantile Systemic Hyalinosis in a Six-Month-Old Infant.

A rare autosomal recessive condition called infantile systemic hyalinosis (ISH) is characterized by early-onset skin lesions that progress to the formation of numerous contractures. The underlying disease is the progressive accumulation of hyaline substances in many tissues. We are presenting the case of a male infant who was referred for evaluation and management at the age of six months.

Exploring Complexity: A Case Report of a Cystic Hygroma With Complex Congenital Heart Defects and Annular Pancreas in a One-Year-Old Child.

Lymphatic malformations frequently present as benign masses in the neck and clavicle region among infants and young children. Cystic hygroma represents an often-encountered form of lymphatic malformation. This case report details the medical history of a one-year-old girl characterized by a multifaceted medical background, initially exhibiting symptoms of persistent cough, cold, and neck swelling.

Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy.

Oro-facial-digital syndrome, specifically Mohr syndrome, is an uncommon genetic disorder characterized by predominant oro-facial anomalies and polysyndactyly. While typically associated with autosomal recessive and X-linked dominant inheritance patterns, this case presents an autosomal dominant mode of transmission. This report documents the clinical presentation of three individuals, a 12-year-old male child and two females, 10-year-old and eight-year-old, who have inherited the disorder from their ancestors.

Estimation of Prevalence of Thrombocytopenia in Cyanotic Congenital Heart Disease: A Cross-Sectional Study Among the Pediatric Population.

Background Congenital heart disease (CHD) is one of the leading causes of mortality in India, with the majority being attributed to cyanotic conditions. Hence, it is crucial to assess the factors that play a significant role in patient prognosis in heart defects of a child. The present cross-sectional study assessed the prevalence of thrombocytopenia in patients with cyanotic congenital heart defects (CCHD).

Atypical Presentation of Wilson Disease: Unravelling a Clinical and Radiological Complexity in a Rare Case.

Wilson disease (WD) is an autosomal recessive disorder marked by aberrations in copper metabolism, leading to its accumulation in vital organs such as the liver, brain, cornea, kidneys, and heart. While WD typically presents with hepatic symptoms in early childhood, neuropsychiatric manifestations are more prevalent during adolescence. This case report highlights an extraordinary instance of WD in an eight-year-old girl, characterized by intricate clinical and radiological features.

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.

Navigating Idiopathic Masseter Muscle Hypertrophy in a 14-Year-Old Female Child: A Report of a Unique Case.

This case report documents the clinical journey of a 14-year-old female child experiencing bilateral swelling and pain in the mandibular region, suggestive of idiopathic masseter muscle hypertrophy. This condition, although relatively uncommon, can present itself either unilaterally or bilaterally. While cosmetic concerns, often denoted as a "square face," are commonly expressed by patients, additional symptoms like protrusion, bruxism, or trismus may also be present.