Can biomarkers predict myocardial iron overload in children with thalassemia major?

AIM: Beta-thalassemia major requires regular blood transfusions throughout life, which in turn leads to iron accumulation in the body. While cardiac T2* MRI is the gold standard in determining cardiac iron accumulation, it is not always feasible, which has led to the search for new biomarkers. Herein, the value of growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide in predicting cardiac iron accumulation is investigated in asymptomatic children with beta-thalassemia major. MATERIALS AND METHOD: Forty-one patients aged 11-21 years and 41 age-, gender-, body mass index-matched healthy controls were included. Serum growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide levels were compared between the patients and controls. Additionally, the relations of these biomarkers with cardiac and liver T2 * MRI were investigated in the patients. RESULTS: In the patients, growth differentiation factor-15, galectin-3, and N-terminal pro-B-type natriuretic peptide levels were higher than healthy controls (p < 0.001, p = 0.025, p < 0.001, respectively). There were no significant correlations of growth differentiation factor-15 and N-terminal pro-B-type natriuretic peptide levels with both cardiac and liver T2 * MRI measurements. While there was no significant correlation of serum galectin-3 with cardiac T2 * MRI measurements, a negative correlation was found with liver T2 * MRI measurements (p = 0.040, rho = -0.325). CONCLUSION: All three biomarkers investigated in this study failed to predict myocardial iron accumulation in asymptomatic children with beta-thalassemia major. However, a weak relation between serum galectin-3 level and hepatic iron accumulation was demonstrated.

Evaluation of left ventricular function and myocardial deformation in children with beta-thalassemia major by real-time three-dimensional (four-dimensional) and speckle tracking echocardiography.

AIM: This study aimed to evaluate the role of real-time three-dimensional (four-dimensional) and speckle tracking echocardiography for early detection of left ventricular systolic dysfunction and also for the relationship between myocardial deformation parameters and myocardial iron load which is measured by cardiac magnetic resonance relaxation time T2* values in asymptomatic children with beta-thalassemia major. MATERIAL AND METHODS: This multicenter cross-sectional study included 40 patients (mean age 15.4 ± 2.9, 42.1% male) and 40 healthy children whose age, gender, and body mass index-matched with patients. Each participant underwent conventional echocardiography and tissue Doppler imaging. Left ventricular ejection fraction; global longitudinal, circumferential, radial strains; twist; and torsion were measured by real-time three-dimensional and speckle tracking echocardiography. Cardiac magnetic resonance imaging T2* was measured in patients. RESULTS: Left ventricular global longitudinal, circumferential, and radial strains were decreased despite preserved global ventricular function in patients compared to healthy children (p = p = .029, p = p < .001, p = .003, respectively). There were no statistically significant differences between patients with T2* ≥ 20 ms and patients with T2* < 20 ms for all echocardiographic parameters. Also, there were no significant correlations between all echocardiographic parameters and T2* values in all patients, those with T2* ≥ 20 ms, and T2* < 20 ms. CONCLUSION: We found that even in asymptomatic children with beta-thalassemia major, left ventricular longitudinal, circumferential and, radial functions were impaired by real-time three-dimensional (four-dimensional) and speckle tracking echocardiography. This novel echocardiographic method might be an important tool for detecting subclinical left ventricular systolic dysfunction irrespective of T2* values.

Perianal fistula imaging: a comparison between two-channel superficial Flex coil and eight-channel body coil.

PURPOSE: Perianal fistula is an important health problem with devastating morbidity. For diagnosis and prevention of recurrence, perianal fistula imaging (PFI) is crucial. The aim of this study was to investigate if a Flex-M superficial coil images would provide more information than images obtained with a phased-array body coil in PFI. MATERIAL AND METHODS: Thirty-one fistulas of 29 patients were prospectively evaluated with magnetic resonance imaging. A phased-array body coil was used in all patients as in routine practice, and sequences with Flex-M coil were also obtained. Afterwards, images were evaluated by two experienced radiologists who were blinded to the patients, coil and also to each other. The site of internal and external openings, and presence or absence of abscess and secondary tracts were recorded. RESULTS: The conspicuity of images was better with the Flex-M coil. Both radiologists saw more internal openings with the Flex-M coil. Cohen's κ value was 0.100 (p = 0.201) for Reader 1 and 0.110 (p = 0.361) for Reader 2 between these two coils. Additionally, numerically more internal/external openings and secondary tracts were seen by both readers. Interobserver variability was not statistically significant, and Cohen's κ values signifyied good concordance between readers. CONCLUSIONS: In our study we showed that multichannel superficial phased-array coils improved imaging quality in PFI. We think that Flex-M coil can easily be used in routine clinical practice to gather better images of perianal fistulas.

Persistent craniopharyngeal canal, bilateral microphthalmia with colobomatous cysts, ectopic adenohypophysis with Rathke cleft cyst, and ectopic neurohypophysis: case report and review of the literature.

INTRODUCTION: Persistent craniopharyngeal canal (PCC) is a rare anomaly of the base of the skull. PCC is defined as a well-corticated osseous canal, extending from the roof of the nasopharynx to the base of the sella over the course of the sphenoid corpus. We reported a PCC case with unique associations. The magnetic resonance imaging findings are discussed. CASE PRESENTATION: We report a case of a 2-year-old boy with persistent craniopharyngeal canal, bilateral microphtalmia with large colobomatous cyst, and ectopic adenohypophysis with Rathke cleft cyst. He also has ectopic neurohypophysis and optic atrophy. CONCLUSION: The presence of orbital and optic tract malformations, craniofacial and intracranial anomalies, and tumors can accompany craniopharyngeal canals (CCs). MRI is helpful in the evaluation of PCC and associated anomalies in these patients.

Magnetic resonance imaging based kidney volume assessment for risk stratification in pediatric autosomal dominant polycystic kidney disease.

Introduction: In the pediatric context, most children with autosomal dominant polycystic kidney disease (ADPKD) maintain a normal glomerular filtration rate (GFR) despite underlying structural kidney damage, highlighting the critical need for early intervention and predictive markers. Due to the inverse relationship between kidney volume and kidney function, risk assessments have been presented on the basis of kidney volume. The aim of this study was to use magnetic resonance imaging (MRI)-based kidney volume assessment for risk stratification in pediatric ADPKD and to investigate clinical and genetic differences among risk groups. Methods: This multicenter, cross-sectional, and case-control study included 75 genetically confirmed pediatric ADPKD patients (5-18 years) and 27 controls. Kidney function was assessed by eGFR calculated from serum creatinine and cystatin C using the CKiD-U25 equation. Blood pressure was assessed by both office and 24-hour ambulatory measurements. Kidney volume was calculated from MRI using the stereological method. Total kidney volume was adjusted for the height (htTKV). Patients were stratified from A to E classes according to the Leuven Imaging Classification (LIC) using MRI-derived htTKV. Results: Median (Q1-Q3) age of the patients was 6.0 (2.0-10.0) years, 56% were male. There were no differences in sex, age, height-SDS, or GFR between the patient and control groups. Of the patients, 89% had PKD1 and 11% had PKD2 mutations. Non-missense mutations were 73% in PKD1 and 75% in PKD2. Twenty patients (27%) had hypertension based on ABPM. Median htTKV of the patients was significantly higher than controls (141 vs. 117 ml/m, p = 0.0003). LIC stratification revealed Classes A (38.7%), B (28%), C (24%), and D + E (9.3%). All children in class D + E and 94% in class C had PKD1 variants. Class D + E patients had significantly higher blood pressure values and hypertension compared to other classes (p > 0.05 for all). Discussion: This study distinguishes itself by using MRI-based measurements of kidney volume to stratify pediatric ADPKD patients into specific risk groups. It is important to note that PKD1 mutation and elevated blood pressure were higher in the high-risk groups stratified by age and kidney volume. Our results need to be confirmed in further studies.

Torsion of the Accessory Spleen in a Child With Acute Abdomen.

Accessory splenic torsion is a rare condition that occurs when the accessory spleen twist on its pedicle, leading to a loss of blood supply and subsequent tissue damage. It is a rare cause of acute abdomen with few cases reported in the literature. We report a case of accessory spleen torsion in a 16-year-old male with abdominal pain. The patient, whose lesion was interpreted as a hematoma on imaging at an external center, was admitted to our center with increased, intermittent abdominal pain. The patient's complaints and physical examination were similar to peptic ulcer perforation. Abdominal ultrasonography and abdominal CT performed for differential diagnosis showed a 45x50 mm heterogeneous, hypodense, well-defined lesion located in the splenic hilus, posterior to the stomach, and adjacent to the pancreatic tail. In our center, the lesion was considered to be lesser sac omental torsion and was operated on. A 720-degree torsed accessory spleen was found at surgery and resected. Accessory splenic torsion is not primarily a condition that comes to mind in children with abdominal pain. However, in case of delay in diagnosis and treatment, many complications can be seen. The fact that ultrasonography or computed tomography cannot clearly define accessory splenic torsion also complicates this diagnosis. In such cases, performing diagnostic laparotomy/laparoscopy reveals the definitive diagnosis and is very important in preventing complications.

Adrenal congestion in perinatal hypoxia: Sonographic assessment and relationship with hypoxic ischemic encephalopathy.

BACKGROUND: During hypoxia, blood flow to the brain, myocardium, and adrenal glands is preserved or even increased to maintain homeostasis. Adrenal congestion occurs when venous return remains insufficient. Several different ultrasound measurements of adrenal glands in neonates have been reported in the literature. However, there is no data related on adrenal gland size in neonates with perinatal hypoxia. AIMS: To evaluate the adrenal congestion using by ultrasound (US) measurements in perinatal hypoxia, and to reveal the relationship of adrenal congestion with hypoxic-ischemic encephalopathy (HIE) grades and magnetic resonance imaging (MRI) findings. STUDY DESIGN: Prospective cohort study. SUBJECTS: Infants with perinatal hypoxia who met therapeutic hypothermia criteria and were being cooled were included in the present study. The control group was established from healthy neonates admitted to our center during the recruitment. OUTCOME MEASURES: The gland area was measured by tracing, and both the corpus and crura widths were measured. RESULTS: We reported adrenal gland area data of 110 newborns with HIE and compared them with 56 normal neonates. The adrenal size was significantly higher in the HIE group than in the control group (p<0,01). The frequency of adrenal congestion was 72.7% based on the selected cut-off values. The adrenal gland measurements were increased in the patients with perinatal hypoxia than those of the controls. CONCLUSIONS: In the systemic evaluation of newborns with perinatal hypoxia, additional care should be taken regarding adrenal congestion. The measurement of adrenal size with 2D US will help us to diagnose or confirm adrenal congestion and possible hemorrhagic changes. The morphological data and cut-off values given in our study will be useful for neonatologists and pediatric radiologists to evaluate the patient while managing perinatal hypoxia.