Escherichia coli infected scalp abscess with osteomyelitis following a cephalhaematoma in a neonate.

We discuss an illustrative case of Escherichia coli infected scalp abscess with osteomyelitis following a cephalhaematoma in a 19-day-old neonate. Cephalhaematoma is a common occurrence in neonates after prolonged labour, instrument-assisted, and traumatic deliveries and resolves spontaneously in the majority of cases. Infection may follow haematogenous dissemination or direct inoculation via a skin breach. Complications such as scalp abscess, sepsis, and osteomyelitis of the skull present with local signs, including increasing size, local erythema and tenderness, and fluctuant swelling.

Screening and analysis of single nucleotide polymorphism in the 3'-UTR microRNA target regions and its implications for lung tumorigenesis.

Aim: The study aims to identify high-impact single nucleotide polymorphisms (SNPs) in miRNA target sites of genes associated with lung cancer. Materials & methods: Lung cancer genes were obtained from Uniprot KB. miRNA target site SNPs were mined from MirSNP, miRdSNP and TargetScan. SNPs were shortlisted based on binding impact, minor allele frequency and conservation. Gene expression was analyzed in genes with high-impact SNPs in healthy versus lung cancer tissue. Additionally, enrichment, pathway and network analyzes were performed. Results: 19 high-impact SNPs were identified in miRNA target sites of lung cancer-associated genes. These SNPs affect miRNA binding and gene expression. The genes are involved in key cancer related pathways. Conclusion: The identified high-impact miRNA target site SNPs and associated genes provide a starting point for case-control studies in lung cancer patients in different populations.

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Renal resistive index by point of care ultrasound to predict sepsis associated acute kidney injury in critically ill children.

BACKGROUND: Sepsis associated acute kidney injury (AKI) is linked with adverse outcomes in the PICU. Doppler-based renal resistive index (RRI) has shown promising results in adults for prediction of AKI. We aimed to explore the performance of RRI in children with sepsis. METHODS: This prospective observational study (March - November 2022) included children aged 1-12 years with sepsis admitted to the PICU. RRI and urine neutrophil gelatinase associated lipocalin (NGAL) were measured within 12 h of admission. Children were followed up for 3 days. AKI (new and persistent) was defined as any child with KDIGO stage 2 or 3 AKI on day 3. RESULTS: We enrolled 90 children but included 79 in final analysis. Two thirds (n = 53, 67%) had septic shock. Median (IQR) age was 6.2 years (4.1-9.2). RRI decreased with increasing age. Twenty-six (33%) children had AKI on day 3. Mean (SD) RRI was higher in the AKI group [0.72 (0.08) vs. 0.65 (0.07), p < 0.001].The area under ROC curve for RRI to detect AKI among the 1-4 year old group was 0.75 (95% CI:0.51, 0.98; p = 0.05) and among the 5-12 year old group was 0.76 (0.62, 0.89; p = 0.001). An RRI 0.71 predicted AKI with 100% sensitivity and 46.2% specificity among the 1-4-year-old group and RRI 0.69 predicted it with 70% sensitivity and 77.5% specificity in the 5-12-year-old group. RRI and eGFR at admission were independent predictors of AKI on multivariable analysis. Urine NGAL 94.8 ng/ml predicted AKI with 76.9% sensitivity and 77.4% specificity and AUROC was 0.74 (0.62, 0.86) among the 1-12-year-old group. CONCLUSIONS: RRI values varied with age. RRI showed good diagnostic accuracy to detect new/persistent AKI on day 3 in children with sepsis; however, it was less precise as an independent predictor.

Congenital Absence of Sternum: A Surgical Technique for Successful Outcome.

Congenital absence of sternum is a rare malformation of the anterior chest wall that needs surgical correction to avoid life-threatening complications as a consequence of such defect. It results from either partial or complete failure of fusion of mesenchymal strip during in utero organogenesis. The absence of sternum entails the risk of trauma to the mediastinal structures and other life-threatening complications. This defect is evaluated by a thorough clinical examination and computed tomography imaging of the thoracic cage to plan the surgical procedure. Early repair of the defect when the thoracic cage is still compliant yields the best result.

Tracheobronchial abnormalities on computed tomography angiography in children with congenital heart disease.

OBJECTIVES: To evaluate the assortment of tracheobronchial abnormalities on computed tomography angiography (CTA) in children with congenital heart disease (CHD). METHODS: In this study approved by the Institute ethics committee, CTA studies of 182 children (age range: 2 days-8 years) with CHD, performed from July 2021 to March 2023 were analyzed. Two pediatric radiologists independently assessed the tracheobronchial airways (from the trachea to lobar bronchi) for developmental and branching anomalies and airway compromise (narrowing). In cases which demonstrated airway compromise, the extent and the cause of airway narrowing were evaluated, and the etiology were divided into extrinsic and intrinsic causes. Interobserver agreement between the two radiologists was calculated using kappa statistics. RESULTS: One hundred children demonstrated normal airway anatomy and no luminal narrowing. Airway narrowing was observed in 63 (34.6%) children (κ: 0.954), and developmental airway anomalies were seen in 32 (17.5%) children (κ: 0.935). Of the 63 children with airway narrowing, 47 (25.8%) children had extrinsic cause for narrowing, 11 (6%) children had intrinsic causes for narrowing, and 5 (2.7%) children had both intrinsic and extrinsic causes attributing to airway compromise. Significant airway narrowing (>50% reduction) was seen in 35 (19.2%) children (κ: 0.945). CONCLUSION: Tracheobronchial airway abnormalities are frequently associated in children with CHD and need to be appraised preoperatively. Cross-sectional imaging with CTA provides excellent information on tracheobronchial airway anatomy and caliber as well as delineates the possible etiology of airway narrowing, thus accurately diagnosing airway anomalies.

Increased prevalence of metabolic syndrome and non-alcoholic fatty liver disease in children with atopic dermatitis: A case-control study from northern India.

BACKGROUND/OBJECTIVES: Atopic dermatitis (AD) is a chronic inflammatory skin disorder that affects children worldwide, with potential associations to metabolic syndrome (MetS) and non-alcoholic fatty liver disease (NAFLD). Limited research exists on the interplay between AD, MetS, and NAFLD in the pediatric population. This study aimed to investigate the prevalence and potential relationships among AD, MetS, and NAFLD in children. METHODS: A case-control study design was employed, recruiting 50 children with AD (median age: 9.5 years) and 50 age- and sex-matched healthy controls (median age: 11.5 years, p = .051). Data on demographic characteristics, clinical features, disease severity, treatment history, anthropometric measurements, and laboratory evaluations were collected. MetS and NAFLD were diagnosed based on established criteria. RESULTS: The prevalence of MetS was significantly higher in children with AD compared with controls (24% vs. 2%, p = .002). Significant differences for systolic blood pressure (p < .001), diastolic blood pressure (p = .012), and waist circumference (p = .040) were observed between AD patients and controls. Children with AD had higher triglyceride levels (p = .005). NAFLD was exclusively seen in moderate to severe AD cases (6% vs. 0%, p = .242). AD severity showed associations with increased body mass index (p = .020). CONCLUSION: This study highlights the increased prevalence of MetS and the potential association with NAFLD in children with AD. The findings suggest that AD may contribute to the development of metabolic abnormalities at an early age. Further research is needed to elucidate the underlying mechanisms and explore preventive strategies for these interconnected conditions.

Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.

BACKGROUND: Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies. OBJECTIVES: To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency. METHODS: Clinic records of all patients attending the primary immunodeficiency clinic from 2018 to 2021 were reviewed. Six patients from five families were found to have DOCK8 deficiency. RESULTS: Median age at diagnosis was 7.5 years (range 2-13), with a male/female ratio of 5 : 1. Among the six patients, recurrent eczematous skin lesions were the predominant cutaneous manifestation, present in five patients (83%). Warts and molluscum contagiosum were evident in two patients (33%) and one patient (16%), respectively. Two patients had recalcitrant prurigo nodularis lesions and two had epidermodysplasia verruciformis-like lesions. Food allergies and asthma were reported by one patient each. Of the six patients, recurrent sinopulmonary infections were detected in five (83%). Epstein-Barr virus-driven non-Hodgkin lymphoma with liver metastases was the only case of malignancy, in a 4-year-old boy. IgE was elevated in all patients. Lymphopenia and eosinophilia were observed in three patients (50%) and five patients (83.3%), respectively. Genetic analysis showed DOCK8 pathogenic variants in all patients: homozygous deletion mutations in two patients, compound heterozygous deletion mutations in one, and homozygous nonsense mutations in two. A novel pathogenic homozygous missense variant in the DOCK8 gene was identified in one patient. CONCLUSIONS: DOCK8 deficiency should be considered as a possibility in any patient with early onset eczema, cutaneous viral infections and increased predisposition to allergy, autoimmunity and malignancy.

Canal of nuck hernia with uterus and ovary presenting as inguinal swelling in a female infant.

Canal of nuck hernia is rarely reported in pediatric population. We report one such case of a canal of nuck hernia in a 2-month-old girl containing uterus, ovary and small bowel diagnosed on ultrasonography, and which was later confirmed and treated surgically.

Decoding the rhabdoid riddle in liver: A rare case of primary hepatic malignant rhabdoid tumor with a comprehensive literature review.

Malignant rhabdoid tumor of the liver is a rare, highly aggressive primary hepatic malignancy occurring primarily in infants. Establishing a definitive diagnosis is challenging due to its rarity, non-specific clinicoradiologic findings, and overlapping morphologic features. Herein, we present the cytomorphologic and immunocytochemical characteristics of a rare case of primary hepatic Malignant rhabdoid tumor (MRT) in an infant. A 5-month-old female child presented with progressively increasing firm mass in the upper abdomen, progressive pallor, sudden onset respiratory distress, and difficulty feeding. On examination, the child had massive, firm nodular hepatomegaly. Ultrasonography of the abdomen revealed a heterogeneously hypoechoic lesion in the left lobe of the liver. Serum alpha-fetoprotein levels were within normal limits. An ultrasound-guided fine-needle aspiration cytology (FNAC) from the liver mass showed predominantly dispersed large, markedly pleomorphic tumor cells with round to oval eccentrically placed nuclei, prominent nucleoli, and moderate cytoplasm. On immunocytochemistry, tumor cells showed positivity for vimentin, cytokeratin, and EMA and demonstrated a loss of INI1, confirming the diagnosis of MRT. The index report highlights the distinctive clinicopathological features of a hepatic malignant rhabdoid tumor along with the key differential diagnoses, which may pose a diagnostic conundrum. A high index of clinical suspicion and a thorough understanding of its cytomorphological and immunochemical characteristics are crucial for an accurate diagnosis.

Shear wave elastography of kidneys in children: utility in distinguishing steroid-resistant and steroid-sensitive nephrotic syndrome.

PURPOSE: To assess the renal elasticity values using (SWE) and correlate the values with steroid sensitivity to distinguish between steroid-resistant nephrotic syndrome (SRNS) and steroid-sensitive nephrotic syndrome (SSNS) in children. METHODS: In this IRB-approved cross-sectional study, 83 children (4-14 years) diagnosed with nephrotic syndrome were included from July 2021 to December 2022. SWE measurements were done for each kidney's upper pole, interpolar region, and lower pole. Mean as well as median SWE were calculated. Correlation of the renal stiffness values was done with different laboratory findings (blood urea, serum creatinine, 24 h urine protein, serum albumin, and serum cholesterol), the grayscale findings (cortical echogenicity, and corticomedullary differentiation), and the final diagnosis of SRNS and SSNS. The statistical tests were done at a significance level of α = 0.05. RESULTS: The median (IQR) overall SWE of kidneys was higher in SRNS group 12.64 (8.4-19.68) kPa than SSNS group 9.87 (8.20-12.56) kPa. The difference was significant (p = 0.004). At a cut-off of ≥ 10.694 kPa (AUROC- 0.641), the overall SWE predicted SRNS group with a sensitivity of 70% and a specificity of 63%. A significant correlation (p < 0.05) was found between the SWE and 24-h urine protein, cortical echogenicity, and corticomedullary differentiation in SSNS, while only between SWE and corticomedullary differentiation in SRNS. CONCLUSION: The mean SWE was higher in children with SRNS. While SWE has potential to differentiate SSNS from SRNS, a different study design where SWE is performed at presentation is needed for confirmation.

Pneumatic Insufflation to Confirm Distal Stoma When in Doubt.

Background Distal colostogram and ileostogram are commonly performed radiological procedures in the pediatric population. It is sometimes difficult to identify the distal stoma while performing these procedures. Aim The aim of this study was to describe a technique for the confident identification of distal stoma. Methods Injection of a small quantity of air through the catheterized stoma and following it can help to identify the stoma, as proximal or distal, based on anatomy of the delineated bowel. Conclusion Pneumatic insufflation is a simple, quick procedure to confidently identify the distal stoma whenever in doubt.

Ultrasound and magnetic resonance imaging in thoracic tuberculosis in the pediatric population: moving beyond conventional radiology.

Imaging is crucial in the diagnostic work-up and follow-up after treatment in children with thoracic tuberculosis (TB). Despite various technological advances in imaging modalities, chest radiography is the primary imaging modality for initial care and in emergency settings, especially in rural areas and where resources are limited. Ultrasonography (US) of the thorax in TB is one of the emerging applications of US as a radiation-free modality in children. Magnetic resonance imaging (MRI) is the ideal radiation-free, emerging imaging modality for thoracic TB in children. However, only limited published data is available regarding the utility of MRI in thoracic TB. In this pictorial review, we demonstrate the use of US and rapid lung MRI in evaluating children with thoracic TB, specifically for mediastinal lymphadenopathy and pulmonary complications of TB.