Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias.

Skeletal dysplasias (SKDs) are a heterogeneous group of more than 750 genetic disorders characterized by abnormal development, growth, and maintenance of bones or cartilage in the human skeleton. SKDs are often caused by variants in early patterning genes and in many cases part of multiple malformation syndromes and occur in combination with non-skeletal phenotypes. The aim of this study was to investigate the underlying genetic cause of congenital SKDs in highly consanguineous Pakistani families, as well as in sporadic and familial SKD cases from India using multigene panel sequencing analysis.

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).

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.

Pneumatic Insufflation to Confirm Distal Stoma When in Doubt.

 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.  The aim of this study was to describe a technique for the confident identification of distal stoma.

Unusual pediatric lung infections: imaging findings.

Pediatric lung infections continue to be a leading cause of pediatric morbidity and mortality. Although both pediatric and general radiologists are familiar with typical lung infections and their imaging findings in children, relatively rare lung infections continue to present a diagnostic challenge. In addition, the advances in radiological imaging and emergence of several new lung infections in recent years facilitated the need for up-to-date knowledge on this topic.

Cytomorphologic and immunocytochemical characterization of pediatric pleuropulmonary blastoma with a comprehensive review of the literature.

Introduction: Pleuropulmonary blastoma (PPB) is a rare, aggressive, primary intrathoracic malignancy typically seen in infancy and early childhood. Accurate distinction from congenital cystic lung lesions is crucial due to significant prognostic and therapeutic differences. Cytologic features have rarely been described.

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.

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.

2D Shear wave elastography for evaluation of renal cortex and medulla: stiffness values in healthy children.

Purpose: To evaluate renal cortical and medullary stiffness using 2D Shear-wave elastography (SWE) in healthy children.

Methods: In this IRB approved prospective study, we measured the stiffness of cortex and medulla of children (4 months-17 years) at the upper pole, mid pole, and lower pole in bilateral kidneys.

Results: The median (IQR) values of renal cortex in <1 year age group was 8.

Radiological Imaging in Chest Diseases: Moving Away from Conventional Modes.

A chest radiograph is the most common and the initial radiological investigation for evaluating a child presenting with respiratory complaints. However, performing and interpreting chest radiography optimally requires training and skill. With the relatively easy availability of computed tomography (CT) scanning and more recently multidetector computed tomography (MDCT), these investigations are often performed.

Tuberculosis revisted: classic imaging findings in childhood.

Tuberculosis (TB) remains one of the major public health threats worldwide, despite improved diagnostic and therapeutic methods. Tuberculosis is one of the main causes of infectious disease in the chest and is associated with substantial morbidity and mortality in paediatric populations, particularly in low- and middle-income countries. Due to the difficulty in obtaining microbiological confirmation of pulmonary TB in children, diagnosis often relies on a combination of clinical and radiological findings.

Infra-cardiac TAPVC with an intrahepatic portosystemic shunt: A rare association.

Total anomalous pulmonary venous connection (TAPVC) is an uncommonly encountered cyanotic congenital heart disease characterized by anomalous drainage of the pulmonary veins. Concomitant venous anomalies are rarely found in these patients. We present a case of an infra-cardiac TAPVC with an intrahepatic portosystemic shunt, where a vascular channel was seen between the middle hepatic vein and the left branch of the portal vein with fusiform dilatation of the latter, diagnosed on computed tomography angiography.

Imaging recommendations and algorithms for pediatric tuberculosis: part 1-thoracic tuberculosis.

Tuberculosis (TB) remains a global health problem and is the second leading cause of death from a single infectious agent, behind the novel coronavirus disease of 2019. Children are amongst the most vulnerable groups affected by TB, and imaging manifestations are different in children when compared to adults. TB primarily involves the lungs and mediastinal lymph nodes.

Imaging recommendations and algorithms for pediatric tuberculosis: part 2-extrathoracic tuberculosis.

Despite advances in diagnosis and treatment in recent years, tuberculosis (TB) remains a global health concern. Children are amongst the most vulnerable groups affected by this disease. Although TB primarily involves the lungs and mediastinal lymph nodes, it can affect virtually any organ system of the body.