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The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly...
Kawasaki disease (KD) is a medium artery vasculitis that predominantly affects children under age 5. Prompt diagnosis and treatment with IVIG and moderate dose aspirin is required to prevent the formation of c...
Congenital syphilis (CS) is a sexually transmitted disease caused by Treponema pallidum (TP). When the skeletal system is involved, it often results in multiple, symmetrical bone destruction at the epiphyses o...
Evidence from low- and middle-income countries (LMIC) suggests that home environment is associated with early childhood development outcomes. However, studies from LMIC that have examined how the home environm...
Kawasaki disease is a rare systemic inflammatory syndrome that mainly affects children under five years of age and is the first cause of pediatric acquired cardiovascular disease. The pathogenesis is complex a...
Prone position has been proven to improve ventilation and oxygenation in infants. Currently, there are few reports of early prone position ventilation after pediatric liver transplantation. Here, we present ou...
Long COVID, characterized by persistent symptoms beyond the acute infection phase, remains poorly characterized in children. Our study aim is to determine if children who exhibit any symptoms/conditions associ...
Dipyrone (Metamizole) is a potent pain reliever and fever reducer with muscle relaxant properties, most commonly used as an analgesic and antipyretic agent. Despite the fact that it has been banned in many hig...
This study aims to verify the relationship between screen and sleep time, body mass index (BMI) and immunological factors with telomere length according to leisure-time physical activity (PA) in children and a...
(XPNPEP3) mutations are known to cause nephronophthisis-like nephropathy-1 (NPHPL1), a rare autosomal-recessive kidney disease characterized by progressive kidney failure and cystic kidney disease in childhood. T...
X-linked intellectual disability-hypotonic facies syndrome-1 (MRXHF1) and Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome are caused by pathogenic variant in the ATRX gene, a member of the swi...
Overall, stoma-related morbidity affects a reported 20–38% of pediatric patients. However, determining the true incidence of major stoma-related morbidity is challenging due to limited cohort sizes in existing...
Understanding the timing of food introduction in infants is essential for promoting optimal complementary feeding practices. However, existing studies often rely on cross-sectional data, limiting the ability t...
Kangaroo mother care (KMC) can have a positive effect on the mental well-being of a mother. However, there are specific challenges associated with the process that may contribute to increased anxiety for the m...
Prader-Willi syndrome (PWS) is a rare multisystemic hereditary illness. Recombinant human growth hormone (rhGH) therapy is widely recognized as the primary treatment for PWS. This study aimed to examine how di...
Endothelial dysfunction is an integral pathophysiologic mechanism in sickle cell disease (SCD), and can lead to many complications. Sleep-disordered breathing (SDB) is a SCD complication with diverse incidence...
IL-6 polymorphisms were associated to viral infection outcomes through affection of IL-6 production and it is an early indicator of tissue injury and systemic inflammatory response. The study aimed to determin...
Previous studies have shown that prenatal maternal smoking and maternal secondhand smoke exposure during pregnancy were associated with an increased risk of wheezing and asthma development. However, few studie...
Anemia of prematurity (AOP) is prevalent among very low birth weight infants (VLBWIs). Red blood cell (RBC) transfusions, while necessary for managing AOP, have been linked to adverse neonatal outcomes.
Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitam...
The original article was published in BMC Pediatrics 2024 24:439
The recommended diet attitude in the recently described galactose mutarotase (GALM) deficiency is not yet established. We describe two 9-years twins who remain asymptomatic despite prolonged partial dietary li...
Parenting a child with disabilities can feel isolating and overwhelming. Understanding the health challenges of parents with disabled children is essential for providing effective healthcare. This study aims t...
Previous research has suggested a correlation between postnatal maximum weight loss (MWL) and both neonatal mortality and morbidities in extremely preterm infants. However, the relationship between MWL and neu...
Mediastinal cystic lymphatic malformation (MCLM) in children is prone to misdiagnosis as cystic teratoma. We compared the clinical and radiologic features between the two diseases and performed a cross-compari...
With the release of the coronavirus disease 2019 (COVID-19) pandemic in late 2022 in China, the number of people infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) roared, including neo...
Loss to follow-up (LTFU) among under-five children from HIV care profoundly affects the treatment outcomes of this vulnerable population. It is a major factor that negatively affects the benefits of antiretrov...
Since the 1920s, motor development has been a strong research theme, focusing on infants' acquisition of motor skills, such as turning over and crawling. In the 1980s, a dynamic systems approach began emphasiz...
This study aimed to clarify serum salicylic acid (SA) levels in patients with Kawasaki disease (KD) after the administration of moderate-dose acetylsalicylic acid (ASA) and their relationship with the therapeu...
Infective endocarditis (IE) in children with pre-existing heart conditions is a life-threatening disease entity associated with significant morbidity and mortality. In our cardiac setting, the management outco...
Given the critical role of immune cells and their responses in sepsis pathogenesis, this study aimed to evaluate the prognostic significance of various immune cell ratios in septic children through the collect...
Autism Spectrum Disorder (ASD) has varying prevalence rates worldwide, often higher in culturally diverse populations. Cultural differences can affect autism symptom recognition. Language barriers and differin...
Cerebral blood flow dynamics can be explored through analysis of endothelial frequencies. Our hypothesis posits a disparity in endothelial activity among neonates with perinatal asphyxia, stratified by the pre...
Colony stimulating factor 1 (CSF1) is generally expressed by immune cells in response to pro-inflammatory stimuli. The CSF1 receptor (CSFR) is activated by CSF1, and plays a key role in macrophage homeostasis....
Mechanical ventilation (MV) can cause diaphragmatic injury and ventilator induced diaphragmatic dysfunction (VIDD). Diaphragm ultrasonography (DU) is increasingly used to assess diaphragmatic anatomy, function...
This study aimed to evaluate the effectiveness of Egami, Kobayashi and Sano scores in predicting intravenous immunoglobulin (IVIG) resistance in infant Kawasaki disease (KD), considering its unique clinical pr...
Metabolic acidosis occurs frequently during the first postnatal days in extremely preterm infants and is mainly attributed to renal immaturity. Recent studies suggested a link between metabolic acidosis and th...
Intra-lobar (ILS) and extra-lobar lung (ELS) sequestrations represent rare congenital lung malformations. Despite their benign nature, the lesions pose risks such as recurrent pulmonary infections, hemoptysis,...
As a rare mitochondrial disorder, the pyruvate dehydrogenase complex (PDC) deficiency is a rare inborn disease characterized with glucose metabolism defects, which leads to neurological dysfunction, serum lact...
Aerophagia is caused by the swallowing of excessive air and associated with various gastrointestinal symptoms. Aerophagia is diagnosed based on the observation of the occurrence of excessive air swallowing or ...
Diarrheal disease is still the leading cause of morbidity and mortality in children, despite significant progress in diarrhea interventions. Zoonotic transmission is the main cause of the emergence and re-emer...
An increased incidence of brain abscesses was observed post-COVID-19 pandemic. However, it remains unclear how the COVID-19 pandemic influenced the epidemiology of brain abscesses. This study aimed to investig...
Sepsis is a leading cause of neonatal mortality, despite the availability of effective treatment of possible serious bacterial illness (PSBI), including when referral to a hospital is not feasible. Gaps in acc...
Exposure to alcohol and/or other addictive drugs in pregnancy is a documented risk factor for neurological impairment. We aimed to assess neurodevelopmental outcome at two years of age in infants exposed to pr...
The principal route of HIV infection in children is vertical transmission. Thus, this study aimed to assess the incidence of mother-to-child transmission of HIV and predictors of positivity among HIV-exposed i...
The prevalence of tobacco and alcohol use among adolescents is alarming, and these substances are among the leading risk factors for current and future health among adolescents. Physical activity has the poten...
The objective of this study was to compare HFNC therapy to noninvasive ventilation (NIV/BiPAP) in children with bronchiolitis who developed respiratory failure. We hypothesized that HFNC therapy would not be i...
The Arg64 allele of the rs4994 (Trp64Arg) variant in the β3-adrenergic receptor (ADRB3) gene is involved in the control of energy balance by altering lipolysis and thermogenesis in adipocytes, ultimately contribu...
To investigate the clinical efficacy of transumbilical single-incision laparoscopic surgery in the treatment of complicated appendicitis in overweight/obese adolescents.
Anemia is a significant global public health issue among children aged 6 to 59 months, particularly in low-income countries like Ethiopia. Studies focusing on pastoral communities, especially in the Afar Regio...
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