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Different primary studies in Ethiopia showed the burden of low birth weight. However, variation among those studies was seen. This study was aimed to estimate the national prevalence and associated factors of ...
West Nile virus (WNV) is a mosquito-borne RNA virus belonging to the Flaviviridae family. Symptomatic infection happens in only about 20% of the cases, while WNV neuroinvasive disease (WNND) is rare and accounts ...
Juvenile idiopathic arthritis (JIA) is the most common pediatric chronic rheumatic disease, which requires constant follow-up over the years, due to relapses during its progression. To maintain a good quality ...
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse ...
Kawasaki disease (KD) is sometimes confused with urinary tract infection (UTI) because both can present with pyuria and C-reactive protein (CRP) elevation. The present study investigated the clinical and labor...
Aim of this survey is to review the few available literature data on pathophysiologic and clinical aspects of pubertal development in boys with McCune-Albright syndrome (MAS). On the basis of such analysis, we...
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochem...
This article is part of a Supplement: Volume 44 Supplement 2
The mucopolysaccharidoses (MPS) are clinically similar but also heterogeneous in terms of major or minor involvement of different organs/systems, burden of disease, and rate of progression. The attenuated form...
This article is part of a Supplement: Volume 44 Supplement 2
The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsibl...
This article is part of a Supplement: Volume 44 Supplement 2
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency in lysosomal enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs). The current therapeutic stra...
This article is part of a Supplement: Volume 44 Supplement 2
Mucopolysaccharidoses (MPS) are rare inherited disorders caused by a deficit of the lysosomal hydrolases involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). They are al...
This article is part of a Supplement: Volume 44 Supplement 2
A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typ...
This article is part of a Supplement: Volume 44 Supplement 2
The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GA...
This article is part of a Supplement: Volume 44 Supplement 2
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outc...
This article is part of a Supplement: Volume 44 Supplement 2
The Correction to this article has been published in Italian Journal of Pediatrics 2019 45:71
Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) in different parts of the eye. Ocular problems are very common in MPS ...
This article is part of a Supplement: Volume 44 Supplement 2
Enzyme replacement therapy is currently considered the standard of care for the treatment of mucopolysaccharidoses (MPS) type I, II, VI, and IV. This approach has shown substantial efficacy mainly on somatic s...
This article is part of a Supplement: Volume 44 Supplement 2
Mucopolysaccharidoses (MPS) are a group of diseases characterized by abnormal accumulation of glycosaminoglycans (GAGs). Although there are differences among the various disease types, the osteoarticular syste...
This article is part of a Supplement: Volume 44 Supplement 2
Mucopolysaccharidoses (MPS) are a group of hereditary disorders caused by lysosomal storage of glycosaminoglycans (GAGs) and characterized by a wide variability of phenotypes from severe fetal-neonatal forms t...
This article is part of a Supplement: Volume 44 Supplement 2
Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuro...
This article is part of a Supplement: Volume 44 Supplement 2
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a...
This article is part of a Supplement: Volume 44 Supplement 2
Neurosurgical features of mucopolysaccharidosis (MPS) patients mainly involve the presence of cranio-vertebral junction (CVJ) abnormalities and the development of communicating hydrocephalus. CVJ pathology is ...
This article is part of a Supplement: Volume 44 Supplement 2
This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities i...
This article is part of a Supplement: Volume 44 Supplement 2
Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically identified about 100 years ago. Nowadays, the enzyme ...
This article is part of a Supplement: Volume 44 Supplement 2
Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management...
This article is part of a Supplement: Volume 44 Supplement 2
Cold-induced urticaria is a kind of physical urticaria characterized by the appearance of wheals after exposure to cold. The atypical form is a rare sub-type characterized by appearance of hives even in areas ...
Among breastfeeding determinants, the marketing of breast milk substitutes might contribute to suboptimal breastfeeding rates. The aim of this study was to investigate the effect of receiving information on br...
Neonatal seizures are the most common neurological event in newborns, showing higher prevalence in preterm than in full-term infants. In the majority of cases they represent acute symptomatic phenomena, the ma...
Ring chromosome 6 (r(6)) is a rare disorder that mainly occurs as a ‘de novo’ event. Nonetheless, a wide phenotypic spectrum has been reported in r(6) cases, depending on breakpoints, size of involved region, ...
One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correl...
Viral respiratory infections may promote bacterial super-infection decreasing the host immune response efficiency. However, using a mice model we recently demonstrated that preventive treatment with the bacter...
Fetal supraventricular tachycardia (SVT), characterized by fetal heart rate between 220 and 260 bpm, is a rare but most commonly encountered fetal cardiac arrhythmia in pregnancy that may be associated with ad...
The Correction to this article has been published in Italian Journal of Pediatrics 2019 45:21
Overgrowth syndromes are known as a heterogeneous group of conditions characterized by a generalized or segmental, symmetric or asymmetric, overgrowth that may involve several tissues. These disorders, which p...
Globally Less than one fourth of children aged 6–23 months get the recommended minimum dietary diversity feeding practice. Despite this issue is common in Ethiopia, fragmented and inconsistent findings were fo...
Attention deficit hyperactivity disorder (ADHD) is recognized as the most common, and most studied, developmental age disorder. Basic information, such as the most appropriate case definition and the best way ...
Anemia is a public health problem affecting both developed and developing countries. Childhood anemia is associated with serious consequences including growth retardation, impaired motor and cognitive developm...
In adult studies the MTHFR C677T polymorphism has been associated with an increased risk of migraine, but little research has been done in this area in children.
This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications,...
The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists’ contributions in the fie...
The neonatal period is only 1/60th of the first 5 years of life but it accounts for 63% of all infant deaths and 44% of all under-five deaths in Ethiopia. Most causes of neonatal death are preventable with clean ...
The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on ...
Parenteral nutrition-associated cholestasis (PNAC) is a serious complication in preterm infants receiving prolonged parenteral nutrition. Soybean lipid emulsion (SLE) seems to have a role in its pathogenesis, ...
The relation between nasal flow and malocclusion represents a practical concern to pediatricians, otorhinolaryngologists, orthodontists, allergists and speech therapists. If naso-respiratory function may influ...
Continuous glucose monitoring using subcutaneous sensors is useful in the management of glucose control in neonatal intensive care. We evaluated feasibility and reliability of a continuous glucose monitoring s...
Congenital space-occupying thoracic malformations and diaphragmatic hernia have in common pulmonary hypoplasia. Our study aims to assess cardiac involvement during post-natal adaptation.
Henoch-Schönlein purpura nephritis (HSPN) is the most common pediatric secondary glomerular disease. This study aimed to investigate the significance of glomerular fibrinogen (Fib) deposition in children with ...
Human milk (HM) is the best feeding for premature infants. When own mother’s milk (OMM) is insufficient or unavailable, pasteurized donor human milk (PDHM) and preterm formula (PF) are the alternative nutritio...
In the sub-Saharan countries, many of the children including found in health facilities are not having sufficient care of diarrhea. Diarrheal disease in these countries is one of the main causes of deaths for ...
In childhood B-precursor acute lymphoblastic leukemia (B-ALL), the ETV6/RUNX1 fusion transcript is considered to have an excellent outcome. However, few studies of children with ETV6/RUNX1-positive ALL from China...
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a serious life-treating condition characterized by skin eruption, fever, haematologic abnormalities, and multi-organ involvement that c...
It has been shown that approximately half of survivors of childhood acute lymphoblastic leukemia (ALL) have symptomatic late effects (LE) that may be severe or life-threatening. The aim of our study was to ass...
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