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Alicja Bartkowska-Śniatkowska,1 Katarzyna Jończyk-Potoczna,2 Marzena Zielińska,3 Jowita Rosada-Kurasińska1 1Department of Pediatric Anesthesiology and Intensive Therapy, Poznan University of Medical Sciences, Poznan, Poland; 2Department of Pediatric Radiology, Poznan University of Medical Sciences, Poznan, Poland; 3Department of Anesthesiology and Intensive Care, Pediatric Intensive Care Unit, Wroclaw Medical University, Wroclaw, Poland Abstract: The debate as to whether to administer ceftriaxone to neonates is likely to continue. Ceftriaxone has numerous advantages for critically ill pediatric patients. However, it is also known to contribute substantially to the development of biliary pseudolithiasis. Although pediatric patients rarely develop gallbladder disorders, this complication may lead to adverse events in high-risk patients with predisposing factors, particularly in neonates and infants treated with ceftriaxone. In this paper we present an interesting case report of a 28-day-old neonate with spontaneous severe epidural hematoma who developed biliary pseudolithiasis related to the use of ceftriaxone. We also discuss the efficacy of ceftriaxone in neonates and infants. Neonatologists and pediatric intensivists should be aware of the higher risk of co-existence of hyperbilirubinemia and gallbladder disorders while using ceftriaxone in pediatric settings. Keywords: ceftriaxone, pharmacodynamics, neonate, pseudolithiasis, efficacy

Background: Soft tissue undifferentiated sarcomas (STUS) are an ultra-rare and heterogenous group of mesenchymal neoplasms often lacking known genetic abnormalities with a marked vulnerability towards intensive therapy such as invasive surgery and high dose chemotherapy. Despite aggressive treatment, they are usually associated with dismal outcomes., Case Presentation: Here we describe two cases of STUS in 3-week-old and 3-month-old infants localized on the neck and the trunk area., Discussion: In both cases, the malignancy had a fatal outcome due to the toxicity of intensive therapy in one case and the progression of the disease in the other. The purpose of this report is to discuss the clinical challenges of managing infancy-related STUS such as limited treatment options and poor prognosis.

Introduction: Previous studies investigating the effectiveness of conjugated linoleic acid (CLA) supplementation in body weight reduction provided unequivocal results. We hypothesized that psychological factors such as self-efficacy, locus of control or dispositional optimism can affect the success of the intervention. Therefore, this study aimed to determine the psychological factors that modulate the effectiveness of CLA supplementation in overweight or obese women and affect the ability to successfully complete the study., Methods: In total, 74 subjects were recruited into this three-month randomized trial and divided into intervention and control groups receiving, respectively, capsules containing 3 g 80% CLA per day and capsules containing 3 g of sunflower oil. The following psychological tests were performed before the intervention: Multidimensional Health Locus of Control scale, Acceptance of Illness Scale, Satisfaction with Life Scale (SWLS), General Self Efficacy Scale (GSES), Health Behavior Inventory scale and Life Orientation Test (LOT-R)., Results: A total of 60 women completed the study and the subjects who dropped out obtained higher scores in the GSES ( p  = 0.0490) and the LOT-R ( p  = 0.0087) tests than subjects who completed the trial. Besides, multivariate linear regression demonstrated that the SWLS test ( p  = 0.0345) results were independent predictors of body weight changes., Conclusion: In conclusion, psychological factors like self-efficacy and optimism may be associated with a higher risk of withdrawal from the study, while satisfaction with life may have an impact on the effectiveness of body weight reduction. Clinical trial registration : [https://drks.de/search/en], identifier [DRKS00010462]., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Jamka, Popek, Bukowska-Posadzy, Mądry, Lisowska, Jończyk-Potoczna, Cielecka-Piontek, Bogdański and Walkowiak.)

Familial thoracic aortic aneurysms and dissections may occur as an isolated hereditary trait or as part of connective tissue disorders with Mendelian inheritance, but severe cardiovascular disease in pediatric patients is extremely rare. There is growing knowledge on pathogenic variants causing the disease; however, much of the phenotypic variability and gene-gene interactions remain to be discovered. We present a case report of a 5.5-year-old girl with an aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing was performed, followed by family screening by amplicon deep sequencing and diagnostic imaging studies. In the proband, two pathogenic variants were identified: p.Tyr257Ter in the LOX gene inherited from her mother, and p.Thr2977Ile in the PKD1 gene inherited from her father. All adult carriers of either of these variants showed symptoms of aortic disease. We conclude that the coexistence of two independent genetic variants in the proband may be the reason for an early onset of disease.

Background and Objectives : Conjugated linoleic acid (CLA) can improve bone health in animals, yet the effects on humans have not been consistent. Therefore, this parallel randomised controlled trial aimed to assess the effect of CLA supplementation on bone mineral density (BMD) and content (BMC) in overweight or obese women. Materials and Methods : The study population included 74 women who were divided into the CLA ( n = 37) and control ( n = 37) groups. The CLA group received six capsules per day containing approximately 3 g of cis-9, trans-11 and trans-10, cis-12 CLA isomers in a 50:50 ratio. The control group received the same number of placebo capsules that contained sunflower oil. BMC and BMD at total body, lumbar spine (L1-L4), and femoral neck were measured before and after a three-month intervention. Results : The comparison of BMC and BMD for the total body, lumbar spine (L1-L4), and femoral neck before and after the intervention showed no differences between the groups. However, a within-group analysis demonstrated a significant increase in BMC ( p = 0.0100) and BMD ( p = 0.0397) at lumbar spine (L1-L4) in the CLA group. Nevertheless, there were no significant differences between the CLA and placebo groups in changes in all analysed densitometric parameters. Conclusions : Altogether, three-month CLA supplementation in overweight and obese women did not improve bone health, although the short intervention period could have limited our findings, long-term intervention studies are needed. The study protocol was registered in the German Clinical Trials Register database (ID: DRKS00010462, date of registration: 4 May 2016).

Background: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal tract, usually found in elderly adults. It is infrequent among pediatric patients and usually differs from adult-type disease in terms of histopathology and molecular features., Case Description: We describe the management of the disease in a 10-year-old female patient diagnosed with a GIST of the stomach. In total, she has undergone successively total tumor resection, unsuccessful imatinib treatment and subtotal gastric resection at relapse. The first genetic test from primary tumor confirmed KIT mutations in exons 13 and 17, while the repeated genetic screening using tumor sample from subtotal gastric resection revealed no KIT or platelet-derived growth factor receptor α (PDGFRA) genes mutations. Such dedifferentiation from adult type (thus KIT-mutated) into wild-type (without KIT or PDGFRA mutation) has not been reported so far to the best of our knowledge. Currently, the patient is observed, and no further pharmacological nor surgical treatment has been administered., Conclusions: The case underlines the importance of genetic profiling combined with non-standard diagnostics (both histopathological and radiological) due to the treatment efficacy prediction. We moreover emphasize the necessity to create worldwide standards on the diagnostics and treatment of GIST in pediatric patients that would include options of targeted therapies., Competing Interests: Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://jgo.amegroups.com/article/view/10.21037/jgo-22-1111/coif). The authors have no conflicts of interest to declare., (2023 Journal of Gastrointestinal Oncology. All rights reserved.)

Purpose: The aim of the study was to analyse magnetic resonance imaging (MRI) of paediatric patients referred because of back pain., Material and Methods: The retrospective analysis included the medical records of 328 patients referred in 2020-2022 to the Department of Paediatric Radiology for spine examination. The criterion for inclusion in the analysed group was back pain as the dominant symptom. This symptom occurred in 20% (68 patients) of referrals for MRI examinations. The examination was performed with the 3T Magnetom Spectra., Results: In 68 patients aged 2 to 17 years, with back pain as the first diagnosis, 53% (36 patients - 16 girls and 20 boys) showed abnormalities. The rest of the tests were assessed as normal. Among the patients with an abnormal MR image, the largest group were children with degenerative changes diagnosed: 10 children (28%) aged 13-17 years. In 9 patients (25%) aged 2-16 years the final diagnosis qualified the patients to the group of oncological diagnoses. Another group of 7 (19%) patients, aged 6-14 years, comprised children diagnosed with inflammation. The group of 5 patients, aged 3-17 years, presented symptoms most likely related to the trauma. One 7-year-old boy was diagnosed with large calcifications within the intervertebral disc., Conclusions: Back pain, with accompanying neurological symptoms, should not be underestimated. Although in most clinical situations the MR image is normal, in the case of persistent symptoms and neurological abnormalities confirmed by the clinician, extending the diagnostics with MR imaging should be considered. This imaging can accelerate the correct diagnostic path or make a very precise diagnosis., Competing Interests: The authors report no conflict of interest., (© Pol J Radiol 2023.)

Magnetic resonance imaging (MRI) of the chest is becoming more available in the detection and monitoring of early changes in lung function and structure in patients with cystic fibrosis (CF). The aim of this study was to assess the relationship between pulmonary function tests (PFT) and perfusion deficits in CF children measured by MRI. We performed a retrospective analysis of the perfusion lung MRI scans and the results of spirometry, oscillometry, body plethysmography, single-breath carbon monoxide uptake, and multiple-breath washout technique (MBW). There were statistically significant correlations between the MRI perfusion scores and MBW parameters (2.5% LCI, M1/M0, M2/M0), spirometry parameters (FEV 1 , FVC, FEF25/75), reactance indices in impulse oscillometry (X5Hz, X10Hz), total lung capacity (TLC) measured in single breath carbon monoxide uptake, markers of air-trapping in body plethysmography (RV, RV/TLC), and the diffusing capacity of the lungs for carbon monoxide. We also observed significant differences in the aforementioned PFT variables between the patient groups divided based on perfusion scores. We noted a correlation between markers of functional lung deficits measured by the MRI and PFTs in CF children. MRI perfusion abnormalities were reflected sooner in the course of the disease than PFT abnormalities.

Children with cystic fibrosis (CF) suffer from chronic inflammation and recurrent pulmonary exacerbations (PEs). We aimed to test whether a specific miRNA could be associated with the occurrence of PE. We sequenced extracellular vesicle (EV)-derived miRNA in sputum ( n = 20), exhaled breath condensate (EBC) ( n = 11), and serum ( n = 8) samples from pediatric patients during PE and the stable stage of CF. Four miRNAs: let-7c, miR-16, miR-25-3p and miR-146a, have been selected for validation in a larger group with reverse transcription quantitative real-time PCR (RT-qPCR) in sputum and serum, or droplet digital PCR (ddPCR) in EBC. Next-generation sequencing (NGS) differential expression analysis was done in Base Space, and the correlation between miRNAs expression and clinical data was calculated with Statistica. Functional annotation of selected miRNAs and their potential target genes was performed with miRDip and DAVID software. There were no differences in miRNA expression between stable and exacerbation in sputum and in serum. Validation of four selected miRNAs showed significant downregulation of miR-146a in serum. A panel of all four miRNAs (peripherally) was the best predictive model of exacerbation ( p < 0.001, AUC = 0.96). Expression of airway miR-25-3p improved the diagnostic value of FEV1% pred and FVC% pred, while peripheral miR-146a improved the predictive model of C-reactive protein and neutrophilia. In silico analysis revealed a potential role for selected miRNAs in regulating processes associated with inflammation and tissue remodeling. We demonstrated that EVs contained in peripheral blood as well as local biomaterials can act as carriers for miRNAs with the diagnostic potential of predicting exacerbation in pediatric CF., (© 2023 IOP Publishing Ltd.)

Lymphomas are the ninth most common malignant neoplasms as of 2020 and the most common blood malignancies in the developed world. There are multiple approaches to lymphoma staging and monitoring, but all of the currently available ones, generally based either on 2-dimensional measurements performed on CT scans or metabolic assessment on FDG PET/CT, have some disadvantages, including high inter- and intraobserver variability and lack of clear cut-off points. The aim of this paper was to present a novel approach to fully automated segmentation of thoracic lymphoma in pediatric patients. Manual segmentations of 30 CT scans from 30 different were prepared by the authors. nnU-Net, an open-source deep learning-based segmentation method, was used for the automatic segmentation. The highest Dice score achieved by the model was 0.81 (SD = 0.17) on the test set, which proves the potential feasibility of the method, albeit it must be underlined that studies on larger datasets and featuring external validation are required. The trained model, along with training and test data, is shared publicly to facilitate further research on the topic.

Ataxia-telangiectasia (AT) is a multisystemic neurodegenerative inborn error of immunity (IEI) characterized by DNA repair defect, chromosomal instability, and hypersensitivity to ionizing radiation. Impaired DNA double-strand break repair determines a high risk of developing hematological malignancies, especially lymphoproliferative diseases. Poor response to treatment, excessive chemotherapy toxicities, and the need for avoiding exposure to ionizing radiation make the successful clinical management of patients with AT challenging for oncologists. We describe the favorable outcome of the LBCL with IRF4 rearrangement at stage III in a 7-year-old female patient diagnosed with AT. The patient was treated according to the B-HR arm of the INTER-B-NHL-COP 2010 protocol, including the administration of rituximab, cyclophosphamide, methotrexate, prednisone, etc. She presented excessive treatment toxicities despite individually reduced doses of methotrexate and cyclophosphamide. However, in the MRI there was no significant reduction in pathologic lymph nodes after three immunochemotherapy courses. Therefore, a lymph node biopsy was taken. Its subsequent histopathological examination revealed tuberculosis-like changes, though tuberculosis suspicion was excluded. After two following immunochemotherapy courses, PET-CT confirmed complete remission. From March 2022 onwards, the patient has remained in remission under the care of the outpatient children's oncology clinic.

Ataxia-telangiectasia (A-T) is a syndromic inborn error of immunity (IEI) characterized by genomic instability, defective reparation of the DNA double-strand breaks, and hypersensitivity to ionizing radiation disturbing cellular homeostasis. The role of imaging diagnostics and the conscious choice of safe and advantageous imaging technique, as well as its correct interpretation, are crucial in the diagnostic process and monitoring of children with A-T. This study aimed at defining the role of a radiologist in the early diagnosis of A-T, as well as in detecting and tracking disease complications associated with infections, inflammation, lymphoproliferation, organ-specific immunopathology, and malignancy. Based on our single-center experience, retrospective analysis of investigations using ionizing radiation-free techniques, ultrasound (US), and Magnetic Resonance Imaging (MRI), was performed on regularly followed-up 11 pediatric A-T patients, 6 girls and 5 boys, aged from 2 to 18 years, with the longest period of observation coming to over 13 years. Our attention was especially drawn to the abnormalities that were observed in the US and MRI examinations of the lungs, abdominal cavity, and lymph nodes. The abdominal US showed no abnormalities in organ dimensions or echostructure in 4 out of 11 children studied, yet in the other 7, during follow-up examinations, hepato- and/or splenomegaly, mesenteric, visceral, and paraaortic lymphadenopathy were observable. In 2 patients, focal changes in the liver and spleen were shown, and in one patient progressive abdominal lymphadenopathy corresponded with the diagnosis of non-Hodgkin lymphoma (NHL). The lung US revealed multiple subpleural consolidations and B line artifacts related to the interstitial-alveolar syndrome in 5 patients, accompanied by pleural effusion in one of them. The MRI investigation of the lung enabled the detection of lymphatic nodal masses in the mediastinum, with concomitant airway lesions characteristic of bronchiectasis and focal parenchymal consolidations in one A-T patient with chronic respiratory failure. This patient also manifested organomegaly and granulomatous liver disease in abdominal MRI examination. Our study shows that the use of modern US capabilities and MRI is safe and efficient, thereby serving as a recommended advantageous imaging diagnostic tool in monitoring children with IEI and DNA instability syndromes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Jończyk-Potoczna, Potoczny and Szczawińska-Popłonyk.)

COVID-19 pandemic is the biggest epidemiologic problem of the 21st century. A severe course of SARS-CoV-2 infection in children is rare. Sometimes, especially in patients with chronic disease, COVID-19 may be insidious and life-threatening. This article presents the course of COVID-19 in a 17-year-old boy with Friedreich's ataxia-induced hypertrophic cardiomyopathy. Although, the main symptoms of COVID-19 (i.e., fever, cough) were moderate at the beginning of the illness, the patient's condition deteriorated rapidly due to cardiac problems, atrial fibrillation, and heart failure. The patient required antiarrhythmic treatment and pharmacological and electrical cardioversion. Moreover, because of pneumonia requiring supplemental oxygen, remdesivir and convalescent plasma therapy was given to the patient., The administration of the antiviral treatment was crucial to the patient's recovery., (Copyright © 2022 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Children with COVID-19 develop moderate symptoms in most cases. Thus, a proportion of children requires hospital admission. The study aimed to assess the history, clinical and laboratory parameters in children with COVID-19 concerning the severity of respiratory symptoms. The study included 332 children (median age 57 months) with COVID-19. History data, clinical findings, laboratory parameters, treatment, and outcome, were evaluated. Children were compared in the groups that varied in the severity of symptoms of respiratory tract involvement. Children who required oxygen therapy represented 8.73%, and intensive care 1.5% of the whole cohort. Comorbidities were present in 126 patients (37.95%). Factors increasing the risk of oxygen therapy included comorbidities (odds ratio (OR) = 92.39; 95% confidence interval (95% CI) = (4.19; 2036.90); p < 0.00001), dyspnea (OR = 45.81; 95% CI (4.05; 518.21); p < 0.00001), auscultation abnormalities (OR = 34.33; 95% CI (2.59; 454.64); p < 0.00001). Lactate dehydrogenase (LDH) > 280 IU/L and creatinine kinase > 192 IU/L were parameters with a good area under the curve (0.804-LDH) and a positive predictive value (42.9%-CK). The clinical course of COVID-19 was mild to moderate in most patients. Children with comorbidities, dyspnea, or abnormalities on auscultation are at risk of oxygen therapy. Laboratory parameters potentially useful in patients evaluated for the severe course are LDH > 200 IU/L and CK > 192 IU/L.

Current prognostic classification of rhabdomyosarcoma in children requires precise measurements of the tumor. The purpose of the study was to compare the standard three-dimensional (3D) measurements with semi-automatic tumor volume measurement method concerning assessment of the primary tumor size and the degree of response to treatment for rhabdomyosarcoma in children. Magnetic Resonance Imaging data on 31 children with treated rhabdomyosarcoma based on the Cooperative Weichteilsarkom Studiengruppe (CWS) guidance was evaluated. Tumor sizes were measured by two methods: 3D standard measurements and semi-automatic tumor volume measurement (VOI) at diagnosis, and after 9 and 17/18 weeks of the induction chemotherapy. Response to treatment and prediction values were assessed. The tumor volume medians calculated using VOI were significantly higher in comparison with those calculated using the 3D method both during the diagnosis as well as after 9 weeks of the chemotherapy and during the 17-18th week of the treatment. The volume measurements based on the generalized estimating equations on the VOI method were significantly better than the 3D method ( p = 0.037). The volumetric measurements alone can hardly be considered an unequivocal marker used to make decisions on modification of the therapy in patients with rhabdomyosarcoma.

Purpose: Horner syndrome (HS) manifests in unilateral ptosis, miosis, enophthalmos, and anhedonia. It is most commonly caused by trauma or surgical procedures, but can also occur in pediatric patients as a result of tumors, especially neuroblastoma (NBL). The objective of this study was to analyze the incidence of HS in patients diagnosed with NBL., Methods: A retrospective analysis of data collected at the Department of Pediatric Oncology, Hematology, and Transplantology from 2004 to 2019 was performed. The study group included 119 patients younger than 18 years old, with 62 girls and 57 boys. All of them were diagnosed with a neuroblastic tumor., Results: Among the 119 patients, eight children (6.72%) were diagnosed with HS associated with NBL. Three of these patients presented to the clinic with HS, whereas HS developed after the surgical procedure to remove the tumor in four patients. The adrenal gland was the most frequent localization of the tumor. However, HS occurred more frequently in patients with mediastinum tumors. As a presenting symptom, HS occurred in 2 of 11 cases (18.18%) with mediastinum localization. All of the patients with HS were younger than 2 years old., Conclusion: Investigation of the cause of isolated HS is crucial because it can be the first symptom of NBL. However, the surgical procedure itself increases the risk of HS as a complication of NBL treatment.

The International Neuroblastoma Risk Group Staging System (INRGSS) is based on the age of patients and preoperative imaging, with attention paid to whether the primary tumor is affected by one or more of specific image-defined risk factors (IDRFs). This publication presents a 2.5-year-old boy with neuroblastoma who had an accidental ligation of the celiac trunk during tumor resection. The consequences of this complication were pancreatic and spleen ischemia and necrosis, ischemia, and perforation of the common bile duct, gallbladder, stomach, and duodenum. The aim of this publication was to highlight the great role of the radiologist in determining the indications for neuroblastoma tumor removal, especially with current vascular IDRFs, and to show how the radiologist's insightful approach can save the patient from irreversible complications.

Introduction: Children account for a relatively small proportion of laboratory-confirmed SARS-CoV-2 infections. In children, COVID-19 usually has a relatively mild course. However, in rare cases, severe disorders can be observed, and clinical manifestations may differ from adults., Purpose: The aim of this study is to analyse the frequency, clinical picture and outcome of COVID-19 in children based on the experience from the tertiary care centre and regional sanitary-epidemiological office., Methods: We report a study regarding 106 cases of confirmed SARS-CoV-2 infection cases in PCR from a nasopharyngeal swab (age range 1-month - 17-years). In all cases, history was taken. In children who required hospital admission, physical examination and laboratory test were performed according to clinical indications., Results: Twelve of the patients required admission to the hospital. The most common symptoms were anosmia and dysgeusia (75%) and headaches (49%) in outpatients and fever in hospitalised children (75%). Three children from the hospitalised group developed a severe course with increased inflammatory indexes. The clinical picture was more severe in younger children from the hospitalised group. Treatment options were regarded individually in all cases., Conclusion: Our study is the first tour knowledge regarding the clinical course of COVID-19 in Polish children. In general, the clinical course of COVID-19 was mild with anosmia and dysgeusia as the most common symptoms. However, in hospitalised children, a severe progression of the disease and less typical signs as aplastic anaemia may be developed., (Copyright © 2020 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Infantile choriocarcinoma is an extremely rare disease. We present a case study of a 1-month-old male with choriocarcinoma diagnosed simultaneously with his mother. On admission to hospital, the disease was very advanced and massive progression and multi-organ failure caused the death of the patient despite the implemented treatment. It was too late to save the child's life, but early enough to save his mother. The authors believe that the serum levels of hCG should be determined in every newborn with anemia and liver tumor, especially when the mother has a positive history of miscarriage.

We would like to invite paediatric intensive care units (PICU) to join our multi-center trial concerning patient population < 12 y/o and aiming at: • validation of computed tomography angiography (CTA)/computed tomography perfusion (CTP) tests for brain death/death by neurological criteria (BD/DNC) diagnosis procedures, • validation of duplex Doppler insonation of extracranial segments of the internal cerebral arteries and the vertebral arteries for choosing an optimal time for CTA/CTP testing.

Patients with a Wilms tumor are often admitted to the hospital accidentally, with an abdominal mass causing asymmetry of the abdominal wall. Hypertension accompanying a Wilms tumor occurs in about 10-27% of children, but cardiomyopathy associated with a Wilms tumor is very rarely described. This publication presents a case of a 9-month-old girl with a bilateral Wilms tumor accompanied by dilated cardiomyopathy since her initial cancer diagnosis, as well as her off-protocol treatment. The severe condition of the child forced the application of off-protocol treatment, i.e., accelerated resection of a larger tumor, which enabled the improvement of heart performance and made subsequent therapy possible. In the course of the presented treatment, a gradual normalization of cardiac ventricular function and contractility was observed. In conclusion, a massive abdominal tumor associated with abdominal compartment syndrome compromised the functioning of the cardiovascular system in the young child. Therefore, earlier removal of Wilms tumors in patients with heart failure should be considered. This may result in the improvement of cardiovascular function and the possibility of further therapy.

Phakomatoses are a group of neurocutaneous disorders whose origin is derived from the embryonic ectoderm. These disorders affect the central nervous system, the eyes, and the skin. This article presents phakomatoses and cutaneous manifestations associated with moyamoya disease and syndrome. Moyamoya disease is a progressive and occlusive disorder of the cerebral vasculature often presenting with particular phakomatoses. This article aims to reveal why patients with phakomatoses qualify for detailed neuroimaging., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2021 Termedia Sp. z o. o.)

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, combined immunodeficiency, and oculocutaneous telangiectasia. The hyper-IgM phenotype of A-T, correlating with a class-switch recombination defect, IgG and IgA deficiency, T helper and B cell lymphopenia, immune dysregulation, proinflammatory immune response, autoimmune disease, and a high risk of lymphomagenesis. Progressive liver disease is a hallmark of classical A-T with the hyper-IgM phenotype and manifests as non-alcoholic hepatic steatosis and fibrosis. We report a case of a 17-year-old male A-T patient, in whom a progressive granulomatous liver disease with portal hypertension, has led to massive splenomegaly and hypersplenism, metabolic liver insufficiency, bleeding from esophageal varices and pancytopenia. In this patient, an unusual severe disease course with a highly variable constellation of A-T symptomatology includes granulomatous skin, visceral, and internal organs disease with liver involvement. The liver disease is associated with the hyper-IgM immunophenotype and escalating neurodegeneration, creating a vicious circle of immune deficiency, permanent systemic inflammatory response, and organ-specific immunopathology., (Copyright © 2020 Szczawińska-Popłonyk, Ossowska and Jończyk-Potoczna.)

Introduction: The development of granulomas is a well-recognized manifestation of immunodeficiency in ataxia-telangiectasia (A-T), resulting from lymphocyte developmental abnormalities, impaired immunosurveillance, and inappropriate innate immune response-driven inflammation., Aim: To better understand pathological and immunological phenomena involved in development of cutaneous and visceral granulomatosis observable in patients with ataxia-telangiectasia., Material and Methods: We retrospectively reviewed medical records of eight A-T children, aged from 2 to 13 years, with regard to clinical, immunological and histopathological features of cutaneous and visceral granulomatosis., Results: In four out of eight A-T patients studied, cutaneous granulomas clinically presented as skin nodules and ulcerated erythematous plaques disseminated on the face, and on trauma-prone areas of upper and lower extremities. Visceral granulomatosis had a severe clinical course and involved the lungs, the spleen, the liver and the larynx. Histologically, cutaneous and laryngeal granulomas showed extensive cellular infiltrations containing T lymphocytes with predominating CD8+ phenotype and with CD68+ histiocytes. The immunological profile with the hyper-IgM phenotype, markedly reduced numbers of B and naive CD4+ and CD8+ T cells with predominating IgM-only memory B cells and skewed repertoire of a T cell receptor was observable in patients with skin and visceral granulomatosis., Conclusions: In the setting of combined immunodeficiency in A-T, cutaneous and systemic granulomatosis reflects a granulomatous reaction pattern, as a result of inappropriate immune regulation., Competing Interests: The authors declare no conflict of interest., (Copyright © 2020 Termedia.)

Cerebral computed tomography angiography is a widely available imaging technique that helps in the diagnosis of vascular pathologies. Contrast administration is needed to accurately assess the arteries. On non-contrast computed tomography, arteries are hardly distinguishable from the brain tissue, therefore, radiologists do not consider this imaging modality appropriate for the evaluation of vascular pathologies. There are known contraindications to administering iodinated contrast media, and in these cases, the patient has to undergo another examination to visualize cerebral arteries, such as magnetic resonance angiography. Deep learning for image segmentation has proven to perform well on medical data for a variety of tasks. The aim of this research was to apply deep learning methods to segment cerebral arteries on non-contrast computed tomography scans and consequently, generate angiographies without the need for contrast administration. The dataset for this research included 131 patients who underwent brain non-contrast computed tomography directly followed by computed tomography with contrast administration. Then, the segmentations of arteries were generated and aligned with non-contrast computed tomography scans. A deep learning model based on the U-net architecture was trained to perform the segmentation of blood vessels on non-contrast computed tomography. An evaluation was performed on separate test data, as well as using cross-validation, reaching Dice coefficients of 0.638 and 0.673, respectively. This study proves that deep learning methods can be leveraged to quickly solve problems that are difficult and time-consuming for a human observer, therefore providing physicians with additional information on the patient. To encourage the further development of similar tools, all code used for this research is publicly available., Competing Interests: The authors have declared that no competing interests exist.

MicroRNAs are small non-coding RNAs that regulate immune response and inflammation. We assumed that miRNAs may be involved in the immune response during cystic fibrosis pulmonary exacerbations (CFPE) and that altered expression profile in the airways and blood may underlie clinical outcomes in CF pediatric patients., Methods: We included 30 pediatric patients diagnosed with cystic fibrosis. The biologic material (blood, sputum, exhaled breath condensate) was collected during pulmonary exacerbation and in stable condition. The miRNA expression profile from blood and sputum ( n = 6) was done using the next-generation sequencing. For validation, selected four miRNAs were analyzed by qPCR in exosomes from sputum supernatant and exhaled breath condensate ( n = 24). NGS analysis was done in Base Space, correlations of gene expression with clinical data were done in Statistica., Results: The miRNA profiling showed that four miRNAs (miR-223, miR-451a, miR-27b-3p, miR-486-5p) were significantly altered during pulmonary exacerbation in CF patients in sputum but did not differ significantly in blood. MiRNA differently expressed in exhaled breath condensate (EBC) and sputum showed correlation with clinical parameters in CFPE., Conclusion: MiRNA expression profile changes in the airways during pulmonary exacerbation in CF pediatric patients. We suggest that miRNA alterations during CFPE are restricted to the airways and strongly correlate with clinical outcome.

Aim: The aim of the study was to assess long-term consequences of central nervous system (CNS) prophylaxis in patients with high-risk ALL (HR-ALL) treated according to ALL IC-BFM 2002 and to compare observed abnormalities in patients who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) with those who received only prophylactic CNS irradiation (12 Gy) and with control group., Patients and Methods: We studied 29 patients with HR-ALL in CR1 after treatment according to protocol ALL IC-BFM 2002 (14 with allo-HSCT conditioned with fractionated total body irradiation [FTBI] and 15 without HSCT) and 16 children with newly diagnosed ALL (control group). The median time from therapy completion to evaluation was 5 years. To assess brain status, volumetric T1-weighted sequences of magnetic resonance imaging were used. Neuropsychological assessment based on battery neuropsychological tests., Results: Transplanted patients had significantly lower volumes of white and gray matter (P = .048 and P < .001) and also of subcortical structures, including the thalamus (P < .001), the hippocampus (P = .007), the putamen (P = .011), the globus pallidus (P = .001), and the accumbens (P < .001). In addition, these patients had generally lower cognitive performance, especially in vocabulary (P = .011), visuospatial ability (P = .047), executive functions and attention (P = .034; P = .002; P = .048), and processing speed (P = .049 and P = .037). The thalamus volume is correlated with neuropsychological performance in verbal functions (P < .001), executive functions (P < .001 and P = .024), and processing speed (P < .001)., Conclusions: In pediatric patients treated for ALL, FTBI-based preparative regimen preceding allo-HSCT causes reduction of subcortical structure volumes and decline in cognitive performance. The observed long-term structural and functional CNS sequelae are significantly more pronounced in transplanted HR-ALL patients than in those treated with prophylactic CNS- radiotherapy only., (© 2020 Wiley Periodicals, Inc.)

Background: In the postnatal period, some sexual dimorphism is observed from the moment of birth, but it is most pronounced from puberty. The aim of the study based on CT images was to assess possible sexual dimorphism of the maxillary sinus in children aged 0-18., Methods: The retrospective analysis of CT images of the head (assessed as normal by radiologists) of 170 patients aged 0-18 (85 females and 85 males) was performed. The maxillary sinuses of every patient were bilaterally measured in three planes. Three diameters were obtained: maximum transverse (horizontal) diameter (the maxillary sinus width, MSW); maximum vertical diameter (the maxillary sinus height, MSH) and maximum antero-posterior diameter (maxillary sinus length, MSL). The automatic CT image segmentation algorithm was used (Syngo Via for Oncology, Siemens) to establish maxilla retrospective analysis of CT images of the head (assessed as normal by radiologists) of 170 patients aged 0-18 (85 females and 85 males) was performed. The maxillary sinuses of every patient were bilaterally measured in three planes. Three diameters were obtained: maximum transverse (horizontal) diameter (the maxillary sinus width, MSW); maximum vertical diameter (the maxillary sinus height, MSH) and maximum antero-posterior diameter (maxillary sinus length, MSL). The automatic CT image segmentation algorithm was used (Syngo Via for Oncology, Siemens) to establish maxillary sinus volume (MSV). The coefficient of variation used in the study allowed the biological variation between sexes to be observed., Results and Conclusions: The sexual dimorphism of maxillary sinus parameters is variable and depends on the phase of ontogenesis. All investigated parameters of maxillary sinuses are larger in males at 2-3 years (except for the length, which is larger in females by the end of three years, between six and nine years and after 15 years). The sexual dimorphism is less evident during the first year of age, and the most evident between 15 and 16 years. During the first two years, females are dominant with all parameters being larger than in males. The maxillary sinus length is developmentally the most stable parameter of maxillary sinuses, because throughout the investigated ontogenesis, the sexual differences are very similar. The most evident sexual dimorphism is observed in the volume of the maxillary sinus., (Copyright © 2019 Elsevier GmbH. All rights reserved.)

Cystic fibrosis (CF) is one of the most common genetic disorders among the White population. The disease has a progressive course and leads to a reduction in the quality of life and of life expectancy. Standard diagnostic procedures used in the monitoring of CF patients include methods which expose patients to ionizing radiation. With increasing life expectancy in CF the cumulative dose of ionising radiation increases, prompting clinicians' search for safer imaging studies. Despite its safety and availability lung ultrasound (LUS) is not routinely used in the diagnostic evaluation of CF patients. The aim of the study was to evaluate the diagnostic value of LUS in children with CF compared to a chest X-ray, and to assess the diagnostic value of the recently developed LUS score-CF-USS (Cystic Fibrosis Ultrasound Score). LUS was performed in 48 CF children and adolescents aged from 5 to 18 years (24 girls and 24 boys). LUS consisted of the assessment of the pleura, lung sliding, A-line and B-line artefacts, "lung rockets", alveolar consolidations, air bronchogram and pleural effusion. Chest radiography was performed in all patients and analyzed according to the modified Chrispin-Norman score. LUS was analyzed according to CF-USS. The correlation between the CF-USS and the modified Chrispin-Norman scores was moderate (R = 0.52, p = 0.0002) and strong in control studies. In 75% of patients undergoing LUS, small areas of subpleural consolidations were observed, which were not visible on x-rays. At the same time, LUS was not sensitive enough to visualize bronchial pathology, which plays an important role in assessing the progression of the disease. Conclusions: LUS constitutes an invaluable tool for the diagnosis of subpleural consolidations. CF-USS results correlate with the conventional x-ray modified Chrispin-Norman score. LUS should be considered a supplementary radiographic examination in the monitoring of CF patients, and CF-USS may provide clinicians with valuable information concerning the progression of the disease., Competing Interests: The authors have declared that no competing interests exist.

Hydrocephalus is a common neurological condition that can have traumatic ramifications and can be lethal without treatment. Nowadays, during therapy radiologists have to spend a vast amount of time assessing the volume of cerebrospinal fluid (CSF) by manual segmentation on Computed Tomography (CT) images. Further, some of the segmentations are prone to radiologist bias and high intraobserver variability. To improve this, researchers are exploring methods to automate the process, which would enable faster and more unbiased results. In this study, we propose the application of U-Net convolutional neural network in order to automatically segment CT brain scans for location of CSF. U-Net is a neural network that has proven to be successful for various interdisciplinary segmentation tasks. We optimised training using state of the art methods, including "1cycle" learning rate policy, transfer learning, generalized dice loss function, mixed float precision, self-attention, and data augmentation. Even though the study was performed using a limited amount of data (80 CT images), our experiment has shown near human-level performance. We managed to achieve a 0.917 mean dice score with 0.0352 standard deviation on cross validation across the training data and a 0.9506 mean dice score on a separate test set. To our knowledge, these results are better than any known method for CSF segmentation in hydrocephalic patients, and thus, it is promising for potential practical applications.

Objective: The aim of the study was to compare the structure and function of the thyroid in patients with bipolar disorder (BD) receiving long-term lithium treatment, with BD patients never receiving lithium., Methods: Ninety-eight patients (68 female and 30 male), aged 62 ± 13 years, receiving lithium for 3-47 years (mean 19 ± 10 years), and 39 patients (27 female and 12 male), aged 57 ± 10 years, receiving other mood-stabilizing drugs but never treated with lithium, were included. The thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), and free thyroxine (fT4) were estimated, and the ultrasonographic study of the thyroid gland was performed., Results: Compared with patients not receiving lithium, lithium-treated patients had significantly higher concentrations of TSH and fT4 and the lower concentration of fT3. However, the percentage of hypothyroidism was not different in both groups. Lithium-treated patients also had significantly higher thyroid volume, the higher number of focal changes >1 cm, and more frequent goiter. The structural changes were not related to the hormones' concentrations., Conclusions: The results show a significant association between long-term lithium treatment and the increase of TSH and fT4, the decrease of fT3, higher thyroid volume, and more frequent goiter and nodular goiter. The effect of lithium on thyroid structure was not associated with its effect on thyroid hormones., (© 2019 John Wiley & Sons, Ltd.)

Objectives: The aim of the study was a survey-based assessment concerning parents of children undergoing CT examinations and their knowledge of detailed information about procedures involved in imaging diagnostics., Material and Methods: A statistical analysis of 108 surveys of parents of children undergoing CT studies in the Department of Pediatric Radiology in Poznań, Poland was done, with the use of Statistica software., Results: In result of the evaluation of all subsections of the substantive question number, the majority of answers were incorrect (68-98%). No correlation between the number of CT examinations conducted for a child and the number of correct answers to substantive questions was observed. No correlation between the number of CT examinations conducted for a child and the fact of noting the examination with the use of ionizing radiation down in a child's health certificate was stated. The statistical analysis showed that children of parents who declared that the aim of the CT examination had been explained to them better underwent more of them., Conclusions: Parents are poorly informed about a radiation dose and risk related to a CT examination procedure. Int J Occup Med Environ Health. 2019;32(1):65-73., (This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.)

The aim of the study was to evaluate the long-term neurodevelopmental consequences of currently applied acute lymphoblastic leukemia (ALL) therapy containing chemotherapy alone or combined with 12 Gy radiotherapy. Seventy-nine children aged 6.3-21.7 years diagnosed with ALL and treated according to ALL IC-BFM 2002 have been studied. The control group consisted of 23 children newly diagnosed with ALL. We assessed subcortical gray matter volume using automatic MRI segmentation and cognitive performance to identify differences between three therapeutic schemes and patients prior to treatment. Irradiated patients had smaller selected subcortical volumes than those treated with chemotherapy alone and than the controls, while the chemotherapy group had similar volumes as the control one. In neurocognitive assessment, irradiated children performed worse in major domains than the control group. There were no significant results for patients after high dose chemotherapy without radiotherapy. There was a significant relationship between full scale IQ together with verbal learning and volumes of hippocampus, amygdala, and pallidum. In all children treated for ALL, both decreased volume of selected subcortical structures and cognitive impairment were observed, especially in children who were irradiated.

Objective: The aim of the study based on CT images was to assess the age-related changes in maxillary sinus diameters in relation to diameters of the facial skeleton., Materials and Methods: The retrospective analysis of CT images of the head of 170 patients aged 0-18 years (85 females and 85 males) was performed. Specific orientation points (zy, zm, pr, ns, n, and P) were identified in every patient and the following distances were measured: zy-zy, maximum facial width; zm-zm, midfacial width; n-pr, upper facial height; ns-pr, alveolar facial height; and ns-P, distance not indicated in craniometry., Results: The maxillary sinuses of every patient were bilaterally measured in three planes. Three diameters were obtained: maximum transverse (horizontal) diameter called MSW, maximum vertical diameter called MSH, and maximum anteroposterior diameter (length) called MSL. In females, the correlation of MSW, MSH, and MSL and zy-zy, as well as n-pr distances, is very strong. Moreover, the significant correlation was found between all measurements of maxillary sinus and ns-pr as well as ns-P distances in females. The correlation between MSL and all measurements of midface as well as MSH and MSW and all measurements except ns-P is stronger in females than in males. In males, all measurements of maxillary sinus correlate with ns-P distance very strongly., Conclusions: The statistical analysis (correlation and determination coefficient) showed that all measurements of maxillary sinuses correlate with midface dimensions.