Heat shock protein 70 levels in children with nephrotic syndrome
Idiopathic nephrotic syndrome (NS) is the most prevalent glomerular disease in children. Heat shock protein 70 (HSP70) is synthesized in response to diverse stress factors like infections and oxidative stress. We aimed to evaluate serum and urine levels of HSP70 in children with steroid-sensitive nephrotic syndrome (SSNS) and to assess changes in HSP70 levels with prednisolone treatment. Additionally, we seek to determine whether serum and urine levels of HSP70 can differentiate between frequently relapsing and infrequently relapsing cases in children with SSNS.
Impact of endocrine disorders associated with cleft lip and palate
Any impediment to the development of midline structures i.e. hypothalamus, pituitary and oral cavity may cause anatomical and functional issues. We aimed to determine the association of endocrine disorders with anatomic defects of midline structures i.e. cleft types and syndromes, as well as their impact on postoperative intensive care unit (ICU) admissions and complications.
Anti-SRP myositis: a diagnostic and therapeutic challenge
Anti-signal recognition protein (anti-SRP) myopathy is a rare idiopathic inflammatory myopathy in children. Herein, a 3-year-old patient with severe anti-SRP myopathy showing a rapidly progressive disease course is presented in order to increase the awareness of pediatricians about idiopathic inflammatory myopathies.
Polyarteritis nodosa with life-threatening intracranial aneurysms in a child, and treatment with infliximab
Polyarteritis nodosa (PAN) is a rare and serious form of systemic necrotizing vasculitis that predominantly affects medium and small-sized arteries, with central nervous system involvement being particularly uncommon. Treatment strategies are tailored according to the extent and severity of the disease. While conventional therapy includes glucocorticoids and conventional disease-modifying-rheumatic drugs (cDMARDs), biologic agents may be critical for severe and refractory cases.
Metoclopramide-induced rapid-onset psychosis in a child with methylphenidate use: a case report
Metoclopramide, a dopamine antagonist employed for its antiemetic effects, can precipitate neuropsychiatric adverse effects, including extrapyramidal symptoms and, in a few instances, acute psychosis. Although there have been reports of metoclopramide-induced psychosis in elderly individuals, there is no documentation of such incidents in children as far as we are aware.
The outcome of functional constipation in Saudi children
Understanding the outcome of functional constipation (FC) for both patients and physicians is essential, yet it has been infrequently reported worldwide. The objective of this report was to update the outcomes of FC in Saudi children.
Pneumatosis intestinalis: Does it always indicate necrotizing enterocolitis?
Pneumatosis intestinalis (PI) is a rare radiological finding that may be associated with various diseases. In the neonatal period, it is considered pathognomonic for necrotizing enterocolitis (NEC). Cow's milk protein allergy (CMA) is the main cause of allergy especially in term infants appearing following breastfeeding or consumption of milk-based formulas.
Elevated visfatin levels illuminate the inflammatory path in bronchopulmonary dysplasia
Bronchopulmonary dysplasia (BPD) is a chronic lung disease in premature infants caused by an imbalance between lung injury and lung repair in the developing immature lungs of the newborn. Pulmonary inflammation is an important feature in the pathogenesis of BPD. The aim of this study was to evaluate the relationship between the inflammatory microenvironment and the levels of visfatin and nesfatin-1, which are among the new adipocytokines, in BPD patients.
Risk factors of disease severity and mechanical ventilation requirement in childhood Guillain-Barré Syndrome
This study aimed to investigate the risk factors associated with the severity of the disease, the need for mechanical ventilation (MV) and poor prognosis in the early stages of Guillain-Barré Syndrome (GBS).
Role of serum procalcitonin in differentiating disease flare and systemic bacterial infection among febrile children with known chronic rheumatic diseases: a cross-sectional study
To evaluate the role of serum procalcitonin (PCT) as a diagnostic tool to differentiate bacterial sepsis from flare-ups during febrile episodes in children with known rheumatic disorders compared to other inflammatory markers like C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR).
Evaluation of metabolic syndrome components, serum uric acid levels and epicardial adipose tissue thickness in pubertal children by severity of obesity
We aimed to evaluate how the parameters used in the diagnosis of metabolic syndrome (MetS) and parameters such as epicardial adipose tissue (EAT) thickness, insulin resistance (IR), and serum uric acid (SUA) are affected according to the severity of obesity.
Primary breast Burkitt lymphoma with lactic acidosis in a child: a case report
Primary breast lymphoma is extremely rare and constitutes approximately 1% of all non-Hodgkin's lymphomas (NHL). Only 1-5% of them are Burkitt type. We present a case of childhood primary breast Burkitt lymphoma (BL).
The importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience
The management of pediatric acute myeloid leukemia (AML) is based on the prognostic risk classification of initial leukemia. Targeted next-generation sequencing (NGS) is a reliable method used to identify recurrently mutated genes of pediatric AML and associated prognosis.
Comparison of ocular posterior segment parameters in the pediatric population with migraine without aura and tension-type headache
This study aims to compare the posterior ocular structure parameters in children with migraine without aura (MWA), tension-type headache (TTH), and a healthy control group.
The Health-Related Quality of Life scores and joint health in children and young adults with hemophilia
Patients with hemophilia should be evaluated for joint health and overall health in their visits. The aims of this study were to evaluate joint health and health-related quality of life (HRQoL) in patients with mild, moderate, and severe hemophilia; determine which patient groups to focus on and whether there are any neglected patient groups.
Adaptation of the Problem Areas in Diabetes-Teen Scale into Turkish and examination of its psychometric properties: a validity and reliability study
Management of type 1 diabetes (T1DM) is quite challenging for both adolescents and their families. In this study, we aimed to translate the 14-item Problem Areas in Diabetes-Teen (PAID-T) scale, which measures variables that influence diabetes distress, to Turkish and investigate the Turkish version's reliability and validity.
Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA)
Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.
Common complications in spinal muscular atrophy (SMA) type 1 after nusinersen treatment
Spinal muscular atrophy (SMA) is an inherited disease with progressive muscle weakness and atrophy. Despite the new treatments developed recently, primary and secondary effects of muscle weakness in patients with SMA cause mortality and morbidity. The aim of this study is to identify common problems in the follow-up of patients after new treatment modalities and to examine the difficulties in management of these problems.
Dent's disease: case series from a single center
Dent's disease (DD) is a rare X-linked recessive tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis/nephrolithiasis and chronic kidney disease. With this manuscript, we reported three patients diagnosed as DD in our department in the last 10 years and thereby described the genetics, pathophysiology, clinical presentation, course and management of the disease.
Foreign body aspiration through the eyes of a pediatric pulmonologist: Is it possible to reduce the rate of negative rigid bronchoscopies?
Identifying a foreign body aspiration (FBA) still remains a diagnostic difficulty. Moreover, the indications for bronchoscopy in subjects of suspected foreign bodies are not clear. The aim of this study was to evaluate the effectiveness of pediatric pulmonologists in diagnosing FBA.
Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase
Griscelli syndrome (GS) is a rare genetic disorder characterized by oculocutaneous albinism and variable immune dysfunction. Among three distinct types of GS, occurring due to different genetic mutations; GS type 1 presents with neurological manifestations, hemophagocytic lymphohistiocytosis (HLH) generally develops in GS type 2, and GS type 3 primarily exhibits oculocutaneous albinism. HLH, a life-threatening condition with excessive immune activation, may occur secondary to various triggers, including infections, and develop in different tissues, as well as in the testis, similar to Erdheim-Chester disease.