Paediatric pathology,

INTRODUCTION: Skull base pathologies in the paediatric population are rare and require treatment by multiple qualified specialists. The endoscopic endonasal approach has revolutionized surgical treatment because it is less invasive than existing treatments.The goal of this study was to retrospectively review our experience with the reconstruction of paediatric skull middle base defects and associated complications. MATERIALS AND METHODS: We analysed medical records from patients aged ≤ 18 years who were treated at our centre between 2013 and 2021...

Ovarian immature teratoma (IT) is a rare neoplasm comprising ∼3% of ovarian cancers, occurring primarily in young females. Management presents several challenges, including those with elevated serum alpha-fetoprotein, potential confusion regarding pathology interpretation, and paucity of data to support decision-making. MaGIC (https://magicconsortium.com/) is an interdisciplinary international consortium of GCT experts from multiple subspecialties, with members receiving frequent queries regarding IT patient management...

The prevalence of scoliosis in people with cystic fibrosis (CF) seems to be greater than in the normal population. Over the last two years, a screening for spinal deformities was carried out in patients with CF aged 5 to 18 years, followed up at the CF regional Centre in Parma (Italy). Forty-three patients (twenty-seven males, mean age: 11.8 ± 4.5 years) were enrolled in the study. Nine patients (20.9%) were diagnosed with scoliosis, with a mean Cobb angle of 20.8 ± 9.4 (12-38°). Five patients (11...

Uterine leiomyomas are rare in the paediatric population. This report describes a rare case of a submucous leiomyoma in an adolescent girl. The patient presented with a history of abnormal and painful period which was refractory to medical treatment. Sonographic findings revealed a uterine mass that protruded through the cervix until the upper third of the vagina. A hysteroscopic resection was performed, and a pathological examination confirmed a leiomyoma. 12 months after surgery, there were no signs of recurrence...

AIM: Periapical cysts of primary teeth are pathologic entities which are seldom encountered in the clinical practice. Most frequently, these lesions arise in correspondence with primary teeth presenting previous pulp therapy, severe carious lesions, or a history of previous trauma. The aim of the present study is to systematically review the treatment modalities of periapical cysts of the deciduous, along with the reporting of a clinical case. MATERIALS: A case of periapical cyst treated with marsupialization occurring in an 11-year-old patient is described...

Immune-mediated or autoimmune encephalitis (AE) is a relatively new, rare and elusive form of encephalitis in children. We retrospectively collected seropositive children (0-18 years old) with well characterized antibodies through 3 reference laboratories in Israel. Clinical symptoms, MRI and EEG findings and treatment courses were described. A total of 16 patients were included in the study, with 10 females. Anti NMDA encephalitis was most common followed by anti HU and anti mGLuR1. Psychiatric symptoms, abnormal movements, seizures and behavioral changes were the most common presentation...

Primary cardiac tumours are very rare. Cardiac tumours in the perinatal period are even more uncommon with a prevalence of 0.0017% to 0.28% in autopsy series. The majority of benign cardiac tumours are cardiac rhabdomyomas, followed by cardiac fibromas. Another rare congenital heart disease is hypoplastic left heart syndrome (HLHS). Here we present a 21-week-old foetus diagnosed antenatally with HLHS on foetal echocardiogram. An autopsy done on the foetus following medical termination of pregnancy revealed a cardiac fibroma in the ventricular septum...

Government subsidised funding arrangements serve as an essential medium for families to access private speech-language pathology (SLP) services in Australia. This study aimed to investigate whether, from a provider perspective, contemporary public funding models (PFMs) align with best-available scientific evidence for management of children and young persons with swallowing and communication disorders within Australian private-practice settings. This exploratory study was distributed to paediatric speech-language pathologists throughout Australia via an online survey...

Congenital lip sinus is a rare entity with upper lip sinus being rarer than the lower lip sinus. It can be an isolated entity or associated with cleft lip, palate or Van der Woude syndrome. Syndromic association requires proper evaluation and aggressive surgical treatment. Preoperative delineation of the sinus tract with ultrasound sonography or MRI is mandatory. Simple excision is sufficient in cases of isolated sinuses. In this article, we report an infant with upper lip sinus managed successfully with simple excision and reviewed the literature...

The primary objective of this study was to juxtapose the union rate and incidence of complications in paediatric patients presenting early (≤ 7 days) following injury with children presenting later (> 7 days) with femoral neck fractures. This critical appraisal evaluated 15 patients according to their timing of presentation and surgery from the initial day of injury (Group A: operated ≤ 7 days or Group B: > 7 days of injury). Patients with traumatic femoral neck fractures with Delbet 1 to 4 subtypes who were skeletally immature (age ≤ 16 years) were included in the study...

INTRODUCTION: Malignant ectomesenchymoma (MEM) is a soft tissue tumour, consisting of both malignant neuroectodermal elements and one or more mesenchymal elements. CASE PRESENTATION AND REVIEW OF THE LITERATURE: Here we describe the case of a 6-months-old male, previously treated in another hospital for abdominal rhabdomyosarcoma (RMS). Histological re-examination demonstrated that the tumour had mesenchymal and neuroectodermal elements components, with a new diagnosis of abdominal-pelvic MEM...

The paediatric metaphysis is afflicted by a wide range of pathological processes as it is the most metabolically active and well-vascularised part of the developing skeleton. This review focuses on metaphyseal marrow signal change detected with magnetic resonance imaging, which is most often occult on radiographs. When bilateral, these imaging appearances frequently present a diagnostic quandary. This review assists the radiologist to confidently dismiss physiological signal change and confidently work through the differential diagnosis...

Burn wound blister fluid is a valuable matrix for understanding the biological pathways associated with burn injury. In this study, 152 blister fluid samples collected from paediatric burn wounds at three different hospitals were analysed using mass spectrometry proteomic techniques. The protein abundance profile at different days after burn indicated more proteins were associated with cellular damage/repair in the first 24 h, whereas after this point more proteins were associated with antimicrobial defence...

INTRODUCTION: Multisystemic inflammatory syndrome in children (MIS-C) is a therapeutic emergency and can lead to myocardial dysfunction (17%-75%) and heart failure (52%-53%). Intravenous immunoglobulins (IVIG) and corticosteroids (CST) have been validated for the management of this condition. Recent reports suggest that an interleukin-1 (IL-1) receptor antagonist, namely anakinra, may be a valuable add-on to the 2019 novel coronavirus disease (COVID-19) treatment for refractory patients...

Vitamin D deficiency increases the risk of adverse pregnancy outcomes. The high prevalence of vitamin D deficiency worldwide requires the analysis of scientific publications to make recommendations for the prevention, management and treatment of vitamin D deficiency in pregnant women. The purpose of the research was to explore the relationship between pathology and pregnancy outcomes with serum 25-hydroxycholecalciferol levels and vitamin D supplementation. A literature search was performed for systematic literature reviews with meta-analyses published between January 2018 and February 2023...

BACKGROUND AND AIMS: Syndromic biliary atresia is a cholangiopathy characterized by fibro-obliterative changes in the extrahepatic bile duct (EHBD) and congenital malformations including laterality defects. The aetiology remains elusive and faithful animal models are lacking. Genetic syndromes provide important clues for underlying pathogenic mechanisms of disease. We investigated the role of the gene Pkd1l1 in syndromic biliary atresia pathophysiology. METHODS: Constitutive and conditional Pkd1l1 knockout mice were generated to explore genetic pathology as a cause of syndromic biliary atresia...

OBJECTIVE: To assess the efficacy of myopia control spectacle lenses (defocus incorporated multiple segments/DIMS) in slowing myopia progression among a diverse Central European paediatric population and investigate the contribution of baseline parameters on treatment outcomes. METHODS AND ANALYSIS: This retrospective observational study included 62 individuals aged 4-17 years (mean±SD: 10.21±2.70) with progressing myopia but without ocular pathology with a range of -0...

BACKGROUND: Children are less susceptible to infection with SARS-CoV-2 and subsequent severe disease, yet especially vulnerable to the indirect effects of the pandemic. A constrained healthcare service, combined with the societal and behavioural changes observed during the pandemic, is likely to have altered the presentation of paediatric surgical disease. The objective was to investigate the impact of the COVID-19 pandemic on the volume of paediatric surgical admissions, the severity of disease and the type of surgical pathology treated at our centre...

BACKGROUND: The aim of this study is to evaluate the role of leukotriene B4, an inflammatory mediator, in the development of pulmonary hypertension in paediatric patients with CHD with left-right shunt. METHODS: The study included forty patients with CHD with left-right shunts. Based on haemodynamic data obtained from cardiac diagnostic catheterisation, 25 patients who met the criteria for pulmonary arterial hypertension were included in the patient group. The control group comprised 15 patients who did not meet the criteria...

Lymphoproliferative disorders comprise of a group of heterogenous diseases characterised by uncontrolled production of lymphocytes.Castleman disease (CD) is one such disease and comprises of a group of rare disorders that involve enlarged lymph nodes and a broad range of inflammatory symptoms and laboratory abnormalities [1]. We came across young girl who presented to us in the out patient department with this disease After ruling out other pathologies and confirming the diagnosis by doing a tissue biopsy the girl was treated surgically and is disease free till date...