International Journal of Contemporary Pediatrics

Efficacy of nebulized normal saline with or without salbutamol in acute bronchiolitis: a retrospective cohort study

Shahinaz M. Shobat — 2026-03-25

Background: Acute bronchiolitis is the leading cause of hospitalization in infants under one year of age. Despite international guidelines discouraging routine use of bronchodilators, substantial variation persists in clinical practice across different healthcare settings. To compare the clinical efficacy of nebulized normal saline alone versus nebulized saline combined with salbutamol in hospitalized infants with acute bronchiolitis.

Methods: A single-center retrospective cohort study was conducted in infants less than 12 months old hospitalized for acute bronchiolitis. Eighty-one infants were stratified into two groups: nebulized 0.9% saline alone (n=40) and nebulized saline plus salbutamol (n=41). Primary outcome was clinical improvement at discharge, defined as sustained reduction in respiratory rate (≥10 breaths/min), resolution of retractions, and maintenance of oxygen saturation ≥94% for ≥6 hours. Secondary outcome was length of hospital stay. Baseline illness severity was quantified using a prospectively coded score. Statistical analysis included independent t-tests, chi-square tests, and multivariable regression models adjusted for age and baseline severity.

Results: Clinical improvement rates were comparable between groups (75% in saline group vs 73% in saline plus salbutamol group; p=1.00; OR=1.10, 95% CI: 0.41–2.97). Mean length of hospital stay was 2.98±1.29 days in the saline group versus 3.44±1.42 days in the saline plus salbutamol group (p=0.127; Cohen's d=0.34). Multivariable logistic regression confirmed no significant treatment effect on clinical improvement after adjustment for baseline severity (adjusted OR=0.91, 95% CI: 0.34–2.46, p=0.85). Linear regression analysis revealed no significant effect of treatment on length of stay (adjusted β=0.467, p=0.132).

Conclusions: Addition of salbutamol to nebulized saline conferred no clinical advantage over saline alone in the management of acute bronchiolitis in this cohort. These findings support current international evidence and guidelines recommending supportive care as the primary management strategy for bronchiolitis, regardless of the addition of bronchodilators. Implementation of standardized hospital protocols and continuing education may improve practice consistency.

Serum lactate dehydrogenase as an early diagnostic biomarker to differentiate respiratory distress syndrome from transient tachypnea of the newborn

Raid M. R. Umran — 2026-03-06

Background: Early differentiation between respiratory distress syndrome (RDS) and transient tachypnea of the newborn (TTN) remains clinically challenging, particularly in settings where imaging and advanced diagnostics may be delayed. Lactate dehydrogenase (LDH) is a marker of cellular injury and hypoxic stress and may assist in early etiologic discrimination. Objectives of the study were to evaluate the diagnostic performance of serum LDH measured within the first 12 hours of life in differentiating RDS from TTN, and to examine whether LDH provides independent diagnostic value beyond gestational age and birthweight.

Methods: In this prospective diagnostic study, 151 neonates were enrolled: 50 normal controls, 63 with TTN, and 38 with RDS. Serum LDH levels were measured within 12 hours of birth. Group comparisons were performed using appropriate parametric or non-parametric tests. Diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. Univariable and multivariable logistic regression models were constructed to evaluate the independent association of LDH with RDS.

Results: LDH levels differed significantly across groups, demonstrating a stepwise increase from normal neonates to TTN and RDS (p<0.001). In symptomatic infants (TTN versus RDS), LDH showed good discriminatory accuracy (AUC=0.84; 95% CI: 0.75–0.92). A cutoff of 657 U/l yielded 97.4% sensitivity and 69.8% specificity. In univariable analysis, LDH predicted RDS (OR per 100 U/l=1.25; 95% CI: 1.08–1.45; p=0.003). However, after adjustment for gestational age and birthweight, LDH was no longer independently associated with RDS.

Conclusions: Serum LDH demonstrates good early discriminatory performance for differentiating RDS from TTN and shows a biologically plausible gradient across disease severity. However, its association is largely mediated by prematurity and illness severity. LDH may serve as a useful adjunctive biomarker but should be interpreted in conjunction with perinatal and clinical parameters.

Factors associated with perceived stigma among adolescents with epilepsy attending a tertiary care hospital

Saira Khan — 2026-03-25

Background: Epilepsy is a chronic neurological disorder associated with substantial psychosocial burden and stigma, particularly among adolescents. Understanding the factors contributing to perceived stigma is essential to improve their quality of life. This study aimed to assess the level of perceived stigma and identify associated factors among adolescents with epilepsy.

Methods: This cross-sectional study was conducted in the Departments of Paediatric Neurology and Neurology at the National Institute of Neurosciences and Hospital, Dhaka, Bangladesh from January 2024 to December 2024. The study population comprised 206 adolescent patients aged 10 to 19 years diagnosed with epilepsy for more than one year and attended the outpatient departments during the study period.

Results: The mean age of participants was 14.9±2.6 years, with 64.1% males (male-to-female ratio 1.8:1). Generalized seizures were most common (40.8%). The mean KSSE score was 8.9±4.9, with 33% experiencing high perceived stigma. Commonly reported experiences included feeling treated as outcasts (89.8%), mistreatment (78.2%), and discrimination (71.4%). Factors significantly associated with high stigma included female gender (OR=3.73), family history of epilepsy (OR=3.09), and higher seizure frequency in the last three months (OR=1.14). Disclosure of epilepsy reduced the likelihood of high stigma (OR=0.46).

Conclusions: One-third of adolescents with epilepsy experienced high perceived stigma, which was significantly associated with gender, family history, seizure frequency, and disclosure status. Targeted interventions addressing stigma and promoting disclosure may improve psychosocial outcomes in this population.

Profile of thoracic expansion in Congolese school children in Brazzaville: an exploratory study

Jean G. A. Moulongo — 2026-03-25

Background: To determine the values of chest expansion in Congolese children aged 7 to 12 years, and to investigate the link between chest expansion and anthropometric variables (age, height, BMI), hemodynamic variables (heart rate, blood pressure) and maximum oxygen consumption.

Methods: A total of 3745 children (2023 boys and 1722 girls) enrolled in public primary schools in seven districts of Brazzaville were assessed. Anthropometric, hemodynamic and aerobic capacity (VO_2max) data were collected; thoracic circumference who has been measured at the axillary and xiphoid levels, was used to assess thoracic expansion. Significance of differences between experimental variables was analysed using a paired t test, Sokal’s to compare thoracic expansion to the axillary and xiphoid levels, between the two sexes, as well as its variations from 7 to 12 years and during the transition from the 7-10 years age group to the 11-12 years age group. Pearson correlation coefficients were used to test the relationship between a few independent variables and thoracic expansion.

Results: The mean values of thoracic expansion at the axillary and xiphoid levels were 2.23±0.13 cm (2.45±0.15 cm in boys versus 2.00±0.12 cm in girls; p<0.01) and 2.04±0.11 cm (2.25±0.13 cm in boys versus 1.83±0.10 cm in girls; p<0.01). Chest expansion increased with age, regardless of the level of measurement. Significant differences were found between the 7-10 year and 11-12-year age groups for axillary and xiphoidal chest expansion, regardless of sex. Thoracic expansion was positively correlated with age, height, BMI and absolute VO_2max in boys at any measurement level, but only at the axillary level in girls. A negative and close relationship between thoracic expansion determined at the axillary level and heart rate was highlighted.

Conclusions: This work revealed age- and sex-related differences in chest expansion, as well as the influence of a few parameters of interest. However, the data obtained deserve verification and validation by larger studies at the national level before possible popularization.

Demographic patterns, acute management, and outcomes of paediatric seizures presenting to the emergency department: a retrospective study

Wafa Manaf — 2026-03-06

Background: Seizures are among the most common neurological emergencies in paediatric emergency departments (EDs). Presentations range from benign febrile seizures to life-threatening status epilepticus, requiring rapid assessment and evidence-based management.

Methods: It was a retrospective case series that used a group of 40 pediatric patients who came to the ED with seizures. The information gathered was the age, sex, the type of seizure, its duration, related fever, laboratory and neuroimaging results, management, disposal and short-term outcome. In known epilepsy, seizures were categorized as simple febrile, complex febrile, focal epilepsy, generalized afebrile seizures, status epilepticus or breakthrough seizures.

Results: 50% of the patients were non adults (less than five years old) and the percentage of males was higher (57.5%). The percentage of febrile seizures (simple 32.5, complex 15%) was 47.5. The proportion of focal epilepsy was 22.5, generalized afebrile seizures 17.5, status epilepticus 7.5 and single unprovoked seizures 5. Structural abnormalities were detected in the neuroimaging of select cases of focal epilepsy. 27.5% percent of the patients needed to be admitted to the hospital, and 7.5 percent needed Paediatric Intensive Care Unit (PICU) services. Patients showed positive neurological outcomes at all-time discharge.

Conclusions: The range of clinical manifestations of pediatric seizures in the ED is wide, and febrile seizures prevail among younger children. Evidence-based diagnostic and management practices can be achieved on adherence and appropriate resource utilization and positive short-term results. Further focus on the standardized care pathways and parental education is necessary to achieve maximum optimization of pediatric seizure management in the emergency care setting.

Outcome of low dose daily versus standard alternate day prednisolone for frequent relapse nephrotic syndrome in children

M. Masum Billah — 2026-03-25

Background: Nephrotic syndrome is a common chronic glomerular disorder in children, with frequent relapses causing significant clinical and psychosocial burden. Prednisolone remains the cornerstone of therapy, typically administered on an alternate-day schedule for maintenance. However, low daily-dose regimens may improve relapse control with fewer adverse effects, particularly in resource-limited settings.

Methods: This quasi-experimental study included 72 children aged 2-12 years with FRNS treated at the National Institute of Kidney Diseases and Urology, Dhaka, between August 2022 and August 2024. Participants received either daily low-dose prednisolone (0.2 mg/kg; Group A, n=31) or alternate-day prednisolone (0.5 mg/kg; Group B, n=32) for six months. Clinical features, anthropometric measurements, laboratory findings, relapse frequency, and steroid-related adverse effects were assessed at baseline, 3 months, and 6 months. Data were analyzed using independent T-tests and chi-square tests, with p<0.05 considered significant.

Results: Baseline characteristics were comparable. At 6 months, oedema, ascites, and significant proteinuria were more frequent in Group B (70% vs. 41.4%, p=0.027). Group A had a lower cumulative prednisolone dose (60.57±24.79 mg/kg vs. 76.01±14.21 mg/kg, p=0.005), fewer Cushingoid features (3.4% vs. 20%, p=0.049), better BMI preservation, lower relapse rates (41.4% vs. 70%, p=0.027), and higher remission rates (58.6% vs. 30%, p=0.027).

Conclusions: Daily low-dose prednisolone appears more effective and safer than the standard alternate-day regimen in maintaining remission in children with FRNS.

Comprehensive management of seizures in children at a tertiary care hospital: etiology, quality of life and treatment strategies

R. Swetha — 2026-03-25

Background: ILAE (International league against epilepsy 2014), defines epilepsy as at least two unprovoked seizures occurring more than 24 hours apart. It is most common neurological disorder in children about 4-5% of them experience at least one seizure in first 16 years of life. Since studies on children with antiepileptic drugs are relatively lower than in adults, the study focuses on prospective observation of etiology, quality of life and therapeutic management of seizure to improve patient care and ensure rational drug therapy through monitoring.

Methods: The data was collected from 171 parents or representatives of children who were diagnosed of seizure or epilepsy in a period of 6 months (November 2024 to April 2025). The therapeutic monitoring was performed through medical records and questionnaire that assess type of seizure, maternal factors and neonatal history of children, etiology, quality of life, and drug utilization during emergency, admission and discharge to improve patient care.

Results: Monotherapy has been highly preferred on 77% of children and the most common drug used was Clobazam of 45%, phenytoin of 12.8% and SVP of 8.48% were found in prescription pattern analysis. The most common type of seizure was generalized of 44.4%. Higher severity higher impact on quality of life of children.

Conclusions: The study suggest the importance to not only abort seizure episodes but also improvise possible post seizure complications by routine monitoring and optimized drug therapy.

Stunting in under-five children with chronic kidney disease: Indian synthetic growth charts are more accurate than World Health Organization growth standards

Avi Khanna — 2026-03-25

Background: Accurate growth monitoring is critical in pediatric chronic kidney disease (CKD), where impaired linear growth is common. The WHO multicentre growth reference study (MGRS) 2006 standards are widely used but may overestimate stunting in Indian children due to ethnogenetic and environmental differences. Indian synthetic growth charts, developed using the LMS method and based on national data, may offer a more appropriate reference. This study compared stunting prevalence in under-five children with CKD using world health organization (WHO) standards and Indian synthetic growth charts.

Methods: This cross-sectional observational study was conducted at a tertiary care centre in Pune, Maharashtra, over 18 months (January 2023-June 2024). A total of 120 term-born children aged 0-60 months with confirmed CKD were enrolled. Standardized anthropometric measurements of length/height were obtained. Length/height-for-age Z-scores were calculated using WHO AnthroPlus software and LMS values for Indian synthetic charts. Stunting was defined as a Z-score<-2 SD. CKD severity was categorized as mild, moderate, or severe based on clinical, biochemical, and imaging criteria.

Results: Across all age groups, Z-scores were consistently higher when assessed using Indian synthetic charts compared to WHO standards. The prevalence of stunting was significantly lower using synthetic charts (boys 5.9%, girls 1.9%) than WHO charts (boys 13.4%, girls 5.7%). Synthetic charts demonstrated superior discrimination of growth impairment across CKD severity, with a larger Z-score difference between mild and severe CKD (0.597 SD vs. 0.440 SD with WHO).

Conclusions: Indian synthetic growth charts provide a more accurate, population-specific assessment of growth in children with CKD. Their use reduces overdiagnosis of stunting and improves identification of clinically meaningful growth deficits, supporting their integration into routine pediatric CKD monitoring in India.

Restless nights and restless minds: prevalence of sleep disorders in children with attention deficit hyperactivity disorder

Mona P. Gajre — 2026-03-25

Background: The prevalence of sleep disorders in India ranges from 40-50% whereas its prevalence in developed countries is 10-40%. Prevalence of sleep disturbances in children with attention deficit hyperactivity disorder (ADHD) is 25-55%. Hence, the present study was undertaken to assess the prevalence of sleep disorders among children, with ADHD and without ADHD (neurotypicals).

Methods: In a cross-sectional observational study, 40 children (mean age 10.9±0.8 years, 85% males) diagnosed as having ADHD by the diagnostic and statistical manual, fifth edition (DSM-5), and 40 neurotypicals (mean age 10.3±0.3 years, 80% males), were screened for sleep disorders by using the BEARS questionnaire.

Results: Children with ADHD had a greater prevalence of sleep disorders as compared to controls, facing most issues with sleep onset.

Conclusions: Sleep disorders have a cause-and-effect relationship with ADHD; hence it is imperative to screen for them while evaluating a child.

Ferritin–albumin ratio as a prognostic marker in children with sepsis admitted to a tertiary care centre

Sajal Jain — 2026-03-25

Pediatric sepsis remains a major cause of morbidity and mortality worldwide, particularly in low- and middle-income countries. Early risk stratification is essential for timely intervention; however, existing clinical scores and biomarkers may be limited by complexity or delayed availability. Serum ferritin, a positive acute-phase reactant, reflects systemic inflammation, while albumin, a negative acute-phase reactant, reflects disease severity and physiological reserve. The ferritin–albumin ratio (FAR) integrates these opposing responses and may serve as a simple prognostic marker in pediatric sepsis. This prospective observational study included 114 children aged 1 month to 12 years admitted with sepsis at a tertiary care hospital. Clinical features, laboratory parameters, and outcomes were recorded. Serum ferritin and albumin levels measured within the first 24 hours of admission were used to calculate the ferritin–albumin ratio. Outcomes assessed included disease severity, pediatric intensive care unit (PICU) admission, requirement of mechanical ventilation, shock, and mortality. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the prognostic performance of FAR. Children with higher FAR values had significantly higher pSOFA scores and were more likely to require PICU admission, mechanical ventilation, and develop shock. Median FAR was significantly higher among non-survivors compared to survivors. FAR demonstrated excellent discrimination for mortality on ROC analysis, with an area under the curve of 1.00 and high sensitivity and specificity at optimal cut-off values. FAR is a simple, inexpensive, and readily available prognostic marker that can reliably aid early risk stratification and outcome prediction in children with sepsis.

Impact of perceived parenting style on emotional intelligence of nursing students

Harmesh Singh — 2026-03-25

Background: Emotional intelligence (EI) is multidimensional and includes components as perception of emotion, managing own emotions, managing others’ emotions and utilization of emotions. Perceived parenting style is how adolescents perceive their parent’s parenting styles as authoritative, authoritarian and permissive. There is paucity of data on impact of perceived parenting style on emotional intelligence of student nurses.

Methods: This descriptive cross-sectional study included 178 nursing students. Ethical approval and informed written consent was obtained. They were assessed with the sociodemographic data sheet, a questionnaire-based perceived parenting style and the self-report EI scale. Analysis was done by descriptive analysis, ANOVA, Pearson correlation coefficient and p value ≤0.05 was taken as significant.

Results: Majority of the participants were females. The mean age was 20.24±1.71 years. 61.2% were BSc students and 38.8% GNM. Majority were from rural background; 92.1% mothers were house wives and 77% of fathers were farmers. Education of mother had a significant impact on EI (p=0.052), managing own emotions (p=0.02) and managing others’ emotions (p=0.005). The perceived parenting styles by them was authoritative (87.1%), authoritarian (7.3%) and permissive (5.6%). Overall mean EI score was 122.53±10.65. Mean EI scores in authoritative, authoritarian and permissive parenting style of mothers were 123.05±10.44, 118.00±14.05 and 120.40±7.79, respectively as compared to 122.96±10.64, 119.38±11.54 and 120.79±9.95 in fathers. The effect of authoritative parenting style of mother was significantly high in managing others’ emotions (p=0.002) and utilization of emotions (p=0.002). Permissive parenting of mothers was negatively correlated with all components of EI except perception. Authoritative style of father had a significant effect on managing others’ emotions (p=0.012) and utilization of emotions (p=0.004).

Conclusions: The impact of authoritative parenting style was significantly high in managing others’ emotions and utilization of emotions. Authoritarian style of father and permissive parenting of both the parents was negatively correlated with almost all components of EI except perception.

Study of the clinical profile and etiology of neonatal seizures in a tertiary care centre of Bundelkhand region

Kartar S. Sodhi — 2026-03-25

Background: Neonatal seizures are among the most common neurological emergencies, contributing to significant morbidity and mortality. Their causes vary, including hypoxic-ischemic encephalopathy (HIE), infections, metabolic disorders, and intracranial hemorrhage. Seizures in neonates often result in long-term neurodevelopmental challenges, making early diagnosis and intervention crucial. This study aims to assess the prevalence, clinical presentation, etiological factors in neonatal seizures in a tertiary care center in the Bundelkhand region.

Methods: This prospective observational study was conducted at the neonatal intensive care unit (NICU) of Maharani Laxmi Bai Medical College, Jhansi, Uttar Pradesh, from May 2023 to April 2024. A total of 140 neonates diagnosed with seizures and hospitalized for more than 24 hours were included. Data collection involved seizure type, onset, clinical and neurological assessments, and investigations such as electroencephalography (EEG), cranial ultrasound, and metabolic screening.

Results: Among the 140 neonates, 69.3% were outborn, with HIE (65.7%) being the most common cause, followed by septicemia (20.7%) and metabolic disorders (5%). Multifocal clonic seizures (37.9%) were most frequent, followed by subtle seizures (34.3%).

Conclusions: Neonatal seizures remain a major concern, with HIE being the leading cause. A significant proportion of affected neonates experience neurodevelopmental delays, emphasizing the need for early recognition, timely intervention, and long-term follow-up. The findings draw attention to Improved neonatal care and early intervention at the time of delivery in form of widespread neonatal resuscitation training program for all the health care staff who care for newborn at the time of delivery.

Internet addiction among adolescents: prevalence, risk factors and impact on mental health

Anuradha Bansal — 2026-03-25

Background: Internet addiction (IA) is defined as compulsive use of internet resulting in significant impairment to the user. We conducted this study to understand the prevalence of IA and its impact on mental health of adolescents.

Methods: In this prospective cross-sectional study, school and college going students of age group 14-19 years were enrolled. They administered a pre-structured questionnaire to assess the pattern of internet use, level of IA and impact of internet on their mental health.

Results: Overall, 445 eligible students were enrolled in the study. Majority participants were in the age group of 16-17 years (83.2%). The prevalence of moderate to severe IA was 23.8%. Internet use for more than 4.5 hours a day and use of social media platforms were significant risk factors for development of IA. There was a significant correlation between IA and stress, depression or anxiety

Conclusions: About one-fourth of adolescents have IA. There is a need to reduce the use of social media and limit the duration of internet use to prevent the development of addiction.

A study on epidemiology, demographic and clinical presentation of acute encephalitis syndrome in children admitted to a tertiary care hospital in Central Gujarat

Rinki H. Shah — 2026-03-25

Background: Acute Encephalitis Syndrome is a major public health problem in major parts of the world especially in South and South East Asia. Globally, viral infections remain the most common cause of encephalitis in children. Present study was done to identify epidemiology, demographic and clinical presentation of Acute Encephalitis Syndrome in Children.

Methods: This was tertiary care hospital based retrospective study. Data were collected form case record forms from month of July 2024 till December 2024. 57 patients fulfilling the criteria of AES in the age group of 1-12 years were enrolled in the study. Detailed history and investigations were sent including molecular testing of viral titre.

Results: Total 57 children were enrolled. Mean age of presentation was 3.8 years. Majority of cases occur were seen in children less than 6 years of age. Slight male predominance (30 males=52.6% and 27 female 47.4%) was observed. Most patients were referred from rural area. Case fatality rate was observed to be 54.39%. 22 children were discharged while 4 patients went LAMA. CHPV was detected in 7 patients (12.28%) and Japanese encephalitis in one patient (1.75%). Fever was the major presenting complaint (85.96%) while vomiting was presenting complaints in 36 patients (63.16%). Altered sensorium was present in 23 patients (40.35%).

Conclusions: AES remains a life-threatening neurological emergency in children. Young age, rural residence and severe clinical presentation contribute to poor outcome. Strengthening surveillance, early diagnosis and critical care management are essential to reduce mortality and long-term neurological sequelae.

Dental and oral manifestations in a patient with hypophosphatasia: a case report

Saba M. Alshareef — 2026-03-13

Hypophosphatasia (HPP) is an uncommon inherited metabolic disorder caused by deficient activity of tissue‑nonspecific alkaline phosphatase (TNAP), resulting in impaired mineralization of skeletal and dental tissues. Dental manifestations are often among the earliest clinical signs and may include premature tooth loss, enamel and dentin defects, and delayed eruption. A 13‑year‑old female with a confirmed diagnosis of infantile‑onset congenital HPP presented with pain in the upper left posterior region. She was receiving enzyme replacement therapy with asfotase alfa along with growth hormone supplementation. Clinical and radiographic examination revealed a non‑vital maxillary first molar with a defective restoration, generalized enamel and dentin defects, periodontal involvement, mobility of anterior teeth, delayed and ectopic eruption, and malocclusion characterized by an anterior open bite with midline deviation. Endodontic management followed by definitive restoration of the affected tooth successfully resolved the patient’s symptoms. A comprehensive dental care plan including oral hygiene reinforcement, caries control, and extraction of non‑restorable teeth was instituted, with long‑term follow‑up planned. This report highlights the importance of early diagnosis and coordinated multidisciplinary dental care in patients with HPP.

A rare case of Bardet-Biedl syndrome in a 10-year-old child with clinical and genetic correlation

Zeena Salwa — 2026-03-25

Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystem involvement, including rod–cone dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and neurodevelopmental delay. We report a 10-year-old boy who presented with night blindness, progressive visual impairment, obesity, polydactyly, acanthosis nigricans, and insulin resistance. Ophthalmological evaluation revealed reduced visual acuity with bilateral optic disc pallor. The constellation of clinical features fulfilled the diagnostic criteria for Bardet–Biedl syndrome and was subsequently confirmed by genetic testing. Early clinical recognition of BBS is crucial to ensure timely multidisciplinary management and appropriate genetic counseling. This case underscores the importance of considering syndromic etiologies in children presenting with visual impairment, obesity, and polydactyly to facilitate prompt diagnosis and intervention.

Prolidase deficiency presenting as inflammatory bowel disease in an infant

Prerana Vaishnavi Srinivasan — 2026-03-25

Lupi A, Tenni R, Rossi A, Cetta G, Forlino A. Prolidase deficiency: biochemical and clinical heterogeneity. Orphanet J Rare Dis. 2008;3:22.
Forlino A, Marini JC. Prolidase deficiency. GeneReviews®. Seattle (WA): University of Washington. 2017. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1546/. Accessed on 06 December 2025.
Roy A, Raymond K, Koudelka CW, Wang J, Perry J, Reardon G, et al. Prolidase deficiency presenting with inflammatory bowel disease-like colitis. J Pediatr Gastroenterol Nutr. 2014;58(3):e25-8.
Di Rocco M, Gatti R, Gandullia P, D’Alessandro M, Parini R, Dionisi‑Vici C. Gastrointestinal involvement in prolidase deficiency. J Inherit Metab Dis. 2007;30(3):399-404.
Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, et al. Quantitative analysis of the natural history of prolidase deficiency—description and systematic review. Genet Med. 2021;23(9):1604-15.
Kuloglu Z, Kansu A, Serwas N, Demir AM, Yaman A, Ensari A, et al. Inflammatory bowel disease-like phenotype in a young girl with prolidase deficiency. Genet Couns. 2015;26(2):205-11.
Rizvi SA, Elder M, Beasley G. A novel manifestation of prolidase deficiency in a toddler diagnosed with very-early-onset Crohn’s disease. J Pediatr Gastroenterol Nutr. 2019;69(3):e89-90.
Madhusudan M, Sankaranarayanan S, Ramamoorthy R, Munirathnam D, Sivasankaran M. Prolidase deficiency in very early onset inflammatory bowel disease. Indian J Pediatr. 2021;88(5):503.
Aijaz A, Parrey A, Ismail M, Sadaqat M, Noor M, Amin Y, et al. A case of prolidase deficiency presenting as upper gastrointestinal bleed. Ann Clin Case Rep. 2022;7:2089.
Gopalakrishna H, Asif B, Rai A, Conjeevaram HS, Mironova M, Kleiner DE, et al. Chronic liver disease in patients with prolidase deficiency: a case series. Case Rep Gastroenterol. 2024;18(1):49-57.
Castro M, Martinez C, Brathwaite C, Bromberg R, Rodriguez AM, Hernandez E. Porto-sinusoidal vascular disorder in a pediatric patient with prolidase deficiency: a case report. JPGN Rep. 2025;6(4):519-23.

Neonatal epidermolysis bullosa simplex: a mechanobullous skin fragility disease

Shireen Ahmed — 2026-03-25

Epidermolysis bullosa (EB) is a group of hereditary skin blistering disorders characterised by skin fragility and mechanically induced blistering. We present a case of a full-term female neonate with widespread, fragile blisters and erosions at birth, prompting early suspicion of EB. Rapid dermatological evaluation and immunofluorescence antigen mapping confirmed EB simplex (EBS), allowing prompt intervention. Early parental counselling plays a crucial role in ensuring confidence in home care. After six weeks, the mother managed feeding and wound care independently. This case highlights the importance of recognising neonatal skin fragility early, facilitating timely diagnosis and intervention to minimise complications and improve long-term outcomes in infants with EB.

Chronic recurrent multifocal osteomyelitis presenting with prolonged multifocal bone pain: a case report

Karthik Perumachanahalli Busappa — 2026-03-25

Chronic Recurrent Multifocal Osteomyelitis (CRMO) is an autoinflammatory bone disorder affecting primarily children and adolescents, characterized by sterile, recurrent bone pain and multifocal skeletal lesions. Diagnosis is based on clinical criteria and imaging, particularly MRI, to exclude infection or malignancy and to detect both symptomatic and clinically silent lesions. The pathogenesis involves dysregulation of the innate immune system and cytokine imbalance, contributing to chronic inflammation. We report a 13-year-old Indian girl with a prolonged 7-year history of intermittent multifocal bone pain and recurrent low-grade fever. Laboratory evaluation revealed elevated inflammatory markers with negative autoimmune and infective workup. MRI demonstrated multifocal medullary bone lesions consistent with non-infective osteitis. Based on clinical, laboratory, and radiological findings, a diagnosis of CRMO was established. The patient showed significant clinical improvement following treatment with NSAIDs and intravenous pamidronate. Early diagnosis and individualized treatment strategies are crucial in CRMO to improve outcomes and prevent long-term complications.

Laboratory-confirmed measles in a 5-month-old infant: a case report highlighting early susceptibility and public health implications

Rama Kaja — 2026-03-25

Measles disease is caused by the measles virus, a negative-sense, single-stranded, lipid-enveloped RNA virus of family Paramyxoviridae and genus morbillivirus. Measles in infants under the age of eligibility for Measles containing vaccination (MCV) remains a public health concern in India. We report a laboratory confirmed case of measles in a 5-month-old infant who presented with fever, cough and coryza. Clinical findings, laboratory investigations, and hospital courses were documented. Diagnosis was confirmed by detection of measles-specific immunoglobulin M (IgM) antibodies. This case highlights the vulnerability of infants below 6 months of age to measles despite presumed maternal immunity and the need for strengthened measles control strategies, high community vaccination coverage, and consideration of early preventive measures during outbreaks to protect young infants.

Chondroectodermal dysplasia with recurrent lower respiratory tract infections: a case report

Preethi Arunkumar — 2026-03-25

Chondroectodermal dysplasia (Ellis–van Creveld syndrome), a rare autosomal recessive skeletal dysplasia, is characterized by disproportionate dwarfism, ectodermal dysplasia, polydactyly, and congenital cardiac anomalies. Respiratory involvement is recognized as a contributor to morbidity and mortality, but is under-emphasised. We report a 4-year-old male child born to consanguineous parents presenting with multiple admissions for lower respiratory tract infections (LRTIs) since birth. The physical examination revealed short stature, along with acromesomelic limb shortening, frontal bossing, a depressed nasal bridge, low-set ears, postaxial polydactyly, and dental anomalies. The echocardiogram showed an ostium secundum atrial septal defect. The radiology results showed a restricted thoracic cavity together with shortened rib bones. Through consistent supportive care, the child's health improved significantly. Currently, he continues to receive treatment from multiple healthcare specialists. This case highlights that recurrent LRTIs are a significant yet under-recognised clinical complication of chondroectodermal dysplasia, underscoring the importance of early respiratory surveillance and multidisciplinary care to improve outcomes.

Treatment of posterior dislocation following surgical ante-version overcorrection with de-rotation osteotomy of proximal femur in a child with developmental dysplasia. Importance of operative planning: a case report

Pawan B. Nanaiah — 2026-03-25

Proximal femoral osteotomy is commonly performed as an adjunct to open reduction in developmental dysplasia of the hip (DDH) in children presenting after walking age. Inadequate operative planning or incorrect execution of bony procedures can lead to instability and redislocation, resulting in significant morbidity. We report a 7-year-old boy with bilateral DDH who presented with painless limp following two previous surgeries performed elsewhere. The right hip developed posterior dislocation following excessive derotation during proximal femoral osteotomy, while the left hip remained stable. Clinical examination and radiographs demonstrated posterior instability of the right hip with acetabular dysplasia and rotational malalignment of the proximal femur. Revision surgery was planned with extensive soft tissue release, correction of femoral retroversion through rotational osteotomy, and Dega pelvic osteotomy to address posterior and lateral acetabular deficiency. The hip was stabilized with capsulorrhaphy and temporary trans-articular Kirschner wire fixation followed by spica immobilization. At 18 months of follow-up, the hip remained stable with satisfactory remodeling of the acetabulum and proximal femur, and no evidence of avascular necrosis. Excessive derotation during femoral osteotomy can result in femoral retroversion and posterior hip dislocation. Accurate intraoperative assessment of femoral version and adherence to a structured surgical protocol are essential to prevent such complications in DDH surgery.

Syncope as an atypical initial presentation of Glanzmann’s thrombasthenia in an adolescent female: a case complicated by anti-Jka–mediated delayed haemolytic transfusion reaction

Tanvi S. Madane — 2026-03-25

Adolescents with Glanzmanns thrombasthenia (GT), a rare inherited disorder of platelet function characterized by defective platelet aggregation despite normal platelet counts, typically present with mucocutaneous bleeding; however, atypical manifestations may cause a delay in diagnosis. Case report describe a 15-year-old girl who had a syncopal episode due to severe iron-deficiency anaemia brought on by persistent menorrhagia. The initial coagulation levels were normal, prompting additional testing, and platelet aggregation tests confirmed GT. She needed coordinated hematology–gynecology care, anaemia correction, and menstrual bleeding stabilization; however, repeated transfusions caused a delayed hemolytic transfusion reaction because of the development of anti-Jka alloantibodies. Iron supplementation, antifibrinolytics, and customized menstrual control were used to treat the patient; alloimmunization required prolonged antigen matching for subsequent transfusions. She showed a good clinical recovery with no recurrence of syncope, highlighting the significance of early diagnosis, prevention of transfusion-related complications, and a multidisciplinary strategy for the best results, as well as the necessity of considering GT in adolescents with unexplained anaemia and normal coagulation profiles, especially in populations with high consanguinity.

A long-term survivor of ITGA3-related infantile lethal nephrotic syndrome with epidermolysis bullosa

Sailesh I. S. Kumar — 2026-03-25

Infantile lethal nephrotic syndrome with epidermolysis bullosa (ILNEB) syndrome is an autosomal recessive genodermatosis caused by biallelic variants in ITGA3 (integrin subunit alpha 3; 17q21.33), disrupting α3β1 integrin-mediated adhesion in epithelial basement membranes. Canonical features-progressive interstitial lung disease (ILD), congenital/infantile nephrotic syndrome (CNS/INS), and junctional epidermolysis bullosa (JEB)-manifest neonatally with >95% mortality by age 2 years across 22 reported cases. A 9-year-old female from consanguineous pedigree presented with chronic respiratory insufficiency, stunting, mechanobullous dermatosis, and nephrotic-range proteinuria (4.95 g/1.73 m²/day). Multimodal diagnostics, including histopathology and trio-exome sequencing, confirmed homozygous in ITGA3 exon 8, diagnostic of ILNEB. Despite multisystem involvement, multidisciplinary palliation yielded sustained remission. This index case of protracted survival delineates ITGA3-related phenotypic heterogeneity, advocates genomic ascertainment in paediatric ILD-CNS-JEB triads, and posits supportive therapies as longevity modifiers.

Simulation-based training for breastfeeding competency development in midwifery practice: a concept analysis

Deepa N. R. — 2026-03-25

Breastfeeding competency is a core professional requirement in midwifery practice and significantly influences maternal and neonatal health outcomes. Despite global recommendations advocating exclusive breastfeeding, gaps persist in practical skill preparation and clinical confidence among midwifery students. Simulation-based training has emerged as an innovative educational strategy; however, its conceptual meaning within breastfeeding competency development remains inadequately defined. This study aimed to clarify the concept of simulation-based training for breastfeeding competency development in midwifery practice using Walker and Avant’s eight-step concept analysis methodology. A systematic literature search was conducted across PubMed, Scopus, CINAHL, and Web of Science databases for studies published between 2000 and 2025. Sixty-four relevant articles were included in the final synthesis. Five defining attributes were identified: structured experiential learning, simulated clinical environment, competency-based evaluation, facilitated reflective debriefing, and clinical transferability. Antecedents included curricular gaps, technological advancement, maternal–infant health priorities, and ethical considerations in clinical training. Consequences encompassed improved psychomotor skills, enhanced clinical confidence, strengthened breastfeeding support practices, and potential improvement in maternal satisfaction and breastfeeding outcomes. An operational definition was developed to guide curriculum design, research standardization, and policy development. Concept clarification supports the integration of simulation-based strategies into competency-based midwifery education to enhance breastfeeding support quality and maternal–newborn health outcomes.

Experience of women with perinatal mood and anxiety disorder and the supportive role of obstetric and gynecologic nurses

Hemavathi R. — 2026-03-25

Perinatal mood and anxiety disorders (PMADs) represent a significant public health concern affecting women during pregnancy and up to one year postpartum, with substantial consequences for maternal well-being, obstetric outcomes, and infant development. Despite their high prevalence, PMADs remain under-recognized and under-treated, largely due to stigma, limited awareness, and fragmented healthcare services. This comprehensive review synthesizes current evidence on women’s lived experiences of PMADs and examines the supportive role of obstetric and gynecologic nurses in identification, intervention, and continuity of care. A systematic search of major biomedical, nursing, and psychological databases was conducted, incorporating quantitative, qualitative, and mixed-methods studies, systematic reviews, and clinical practice guidelines. Findings indicate that women commonly experience emotional distress, anxiety, guilt, and fear of judgment, which contribute to delayed help-seeking and reduced engagement with mental health services. Obstetric and gynecologic nurses emerged as key facilitators of perinatal mental health care due to their sustained contact with women across the perinatal continuum. Evidence supports the effectiveness of nurse-led screening, psychoeducation, emotional support, and brief psychological interventions in reducing depressive and anxiety symptoms, particularly for mild to moderate PMADs. However, gaps in training, time constraints, and inadequate referral pathways limit optimal nursing involvement. Strengthening nurse education, integrating mental health services within obstetric care, and implementing structured care pathways are essential to improving outcomes. Enhancing the role of obstetric and gynecologic nurses offers a feasible and effective strategy to address the burden of PMADs and improve maternal and infant health outcomes.