Dr. Kadambini Ganguly (1861-1923): A Pioneer in Indian Medicine.

Dr. Kadambini Ganguly was a trailblazing Indian physician and social reformer. As one of the first female graduates and practitioners of Western medicine in India, she broke numerous barriers in a field dominated by men. Her contribution to medicine, particularly in women's healthcare, and her engagement in social reform through the Brahmo Samaj and the Indian National Congress, caused significant progress toward gender equality and social justice. This article looks back on her academic accomplishments, medical career, social activism, and lasting legacy, emphasizing her profound influence on medicine and society in India.

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.

A Rare Presentation of Glucose-6-Phosphate Dehydrogenase Deficiency.

Approximately 400 million individuals globally experience glucose-6-phosphate dehydrogenase (G6PD) insufficiency, an enzymatic condition that may be hazardous. Because of mutations in the G6PD gene, which result in functional variants alongside a variety of biochemical and clinical symptoms, this condition is an X-linked hereditary genetic disorder. Our case is that of a 12-year-old male child who presented with acute liver failure and later on, exhibited signs of hemolysis as well. We had to rule out the possibilities of acetaminophen toxicity and hepatitis A before reaching the conclusion that an underlying G6PD deficiency was being exacerbated by viral infection and simultaneous ingestion of non-steroidal anti-inflammatory drugs (NSAIDs).

A Rare Case of Congenital Generalized Lipodystrophy.

Congenital generalized lipodystrophy type 2 (CGL2) is a rare autosomal recessive disorder characterized by the near-total absence of adipose tissue, leading to various metabolic complications. We present the case of a one-year-old male who exhibited progressive abdominal distension from six months of age. Physical examination revealed distinctive features including triangular facies, hypertelorism, an emaciated appearance with absent buccal fat, and hepatosplenomegaly. Laboratory investigations showed elevated transaminases and a deranged lipid profile, while imaging confirmed hepatosplenomegaly without systemic anomalies. A liver biopsy indicated macrovesicular steatosis and impending cirrhosis. Genetic testing revealed a homozygous pathogenic variant in the BSCL2 gene (c.604C>T), confirming CGL2. The child is under regular follow-up, with genetic counseling provided to the parents. This case underscores the importance of early recognition, genetic diagnosis, and regular monitoring in managing this rare condition.

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.

Comparative Analysis of C-reactive Protein and Procalcitonin as Biomarkers for Prognostic Assessment in Pediatric Sepsis.

Background Sepsis poses a critical medical challenge due to its profound systemic inflammatory response, which frequently results in organ dysfunction and high mortality rates, especially in pediatric patients. The condition requires prompt recognition and aggressive management to mitigate its severe outcomes. Methods This prospective study enrolled 248 pediatric patients admitted with sepsis to the pediatric intensive care unit (PICU) at our tertiary care center. Patients were randomly assigned to either the C-reactive protein (CRP) or procalcitonin (PCT) groups, with biomarker levels measured upon admission (hour zero) and again at 72 hours post-admission. Clinical parameters such as the need for ionotropic support, use of steroids, incidence of acute kidney injury (AKI), requirement for invasive ventilation, patient outcomes, and changes in antibiotic management were assessed based on these biomarker levels. Results Procalcitonin-positive sepsis cases demonstrated notable clinical severity compared to their C-reactive protein counterparts, showing significantly lower systolic blood pressure (p = 0.012), heightened need for ionotropic support (p < 0.0001), and more pronounced liver and renal dysfunction as indicated by elevated serum bilirubin (p = 0.001) and creatinine levels (p = 0.0058). The incidence of AKI was also higher in procalcitonin-positive cases. Despite these severe clinical parameters, there were no significant differences in the length of the PICU stay or in patient outcomes concerning discharge and mortality rates. Procalcitonin levels effectively guided antibiotic management, resulting in therapy adjustments in a substantial proportion of cases, with 67 (54%) experiencing downgrades and 33 (27%) requiring upgrades based on procalcitonin levels measured 72 hours post-admission. Conclusion Procalcitonin proves to be a valuable biomarker in assessing the severity and management of sepsis in pediatric patients. It correlates significantly with clinical parameters such as blood pressure, the need for ionotropic support, and markers of organ dysfunction.

A Comprehensive Echocardiographic Assessment of Neonatal Right Ventricular Function in Neonatal Intensive Care Unit Babies.

Background The right ventricle (RV) in the fetus is the predominant chamber, accounting for about 60% of the total cardiac output. The majority of the RV outflow volume is diverted from the pulmonary artery via the ductus arteriosus to the descending aorta. After birth, the RV undergoes extensive structural and functional modifications. The RV undergoes an improper transition from fetal to neonatal circulation in sick neonatal intensive care unit (NICU) babies. Functional echocardiography is now commonly being used in most NICUs as it is a noninvasive and bedside investigation that gives an immediate evaluation of hemodynamics and can be taken into consideration as an extension of clinical assessment to study a critically unwell neonate. Therefore, a study of RV functions in NICU neonates will help in better understanding the neonatal cardiopulmonary response to different diseases. Thus, this study aimed to assess RV functions in neonates getting admitted to the NICU of a tertiary care institute. Methodology This observational, cross-sectional study was approved by the Research & Recognition Committee of Dr. D. Y. Patil Vidyapeeth, Pune. In total, 35 cases of term neonates admitted to the NICU at Dr. D. Y. Patil Medical College, Hospital & Research Centre, Pune who fulfilled the inclusion criteria were enrolled in this study after obtaining consent from their parents. Two-dimensional echocardiography was performed by a trained pediatric cardiologist, and the findings were substantiated by a neonatologist trained in echocardiography. Results Our study found a strong association between tricuspid inflow velocity and neonates with sepsis. Similarly, a significant association was observed between abnormal tricuspid Inflow velocity (E/A and E/E') and neonates requiring inotropic support. Conclusions Data on the normal values of different echocardiographic parameters of the systolic and diastolic function of the RV during the neonatal phase of life are currently limited. Our data offer preliminary insights into this topic. Early echocardiography and intervention are advisable, especially in neonates with sepsis and requiring inotropic support.