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Topic Review
School-Aged Extremely Preterm (EPT) Children
School-aged extremely preterm (EPT) children have multiple specific neurocognitive/behavioral disorders that are often associated with other disorders; this manifests a true neurobehavioral “phenotype” of prematurity. To determine a profile of cognitive/behavioral impairments in a population of school-aged EPT children (7–10 years-old) without major disabilities, a cross-sectional study was conducted in five medical centers. An algorithm distributed the study population according to four WISC-IV subtests, five NEPSY-2 subtests, and two variables of figure of Rey.
  • 873
  • 03 Nov 2021
Topic Review
Cystinosis in Newborn Screening
Newborn screening programmes (NBS) is to identify presymptomatic newborns with rare serious or fatal disorders that can be successfully treated, thereby achieving a significant reduction in morbidity and mortality.  Infantile nephropathic cystinosis (INC) is a very rare lysosomal metabolic disorder. With the introduction of cysteamine therapy in the early 1980s and the possibility of renal replacement therapy in infancy, patients with cystinosis can now reach adulthood. Early diagnosis of cystinosis remains important as this enables initiation of cysteamine at the earliest opportunity to support renal and patient survival.
  • 873
  • 14 Apr 2022
Topic Review
Prenatal BPA Exposure on Metabolic Parameters
Metabolic syndrome (MS) is a multifactorial disease entity and is not fully understood. Growing evidence suggests that early exposure to bisphenol A (BPA) is a significant risk factor for the development of metabolic diseases. BPA is a monomer used in the manufacturing of polycarbonate plastics, thermal receipt paper, and epoxy resins. Owing to its widespread use, BPA has been detected in human fluids and tissues, including blood, placental and breast milk, and follicular fluid.
  • 873
  • 18 Jul 2022
Topic Review
Histoplasmosis in Children
Histoplasmosis is a systemic fungal infection caused by a dimorphic fungi and occurring globally. It is endemic in the Ohio and Mississippi river valleys of the United States of America, India and Southeast Asia. The clinical presentation of histoplasmosis mimics features seen in tuberculosis (TB) and may be misdiagnosed as such. 
  • 860
  • 12 Jul 2021
Topic Review
Paediatric Type 1 Diabetes
Type 1 diabetes mellitus (T1DM) is one of the most common paediatric chronic illnesses, with a prevalence of 1 in every 400 youth and preceded only by asthma and epilepsy. Paediatric T1DM involves many life-challenges, as children and adolescents are forced to follow an inflexible regimen. Insulin injections, physical activity and healthy dieting to avoid episodes of extremely high or low levels of hemoglobin A1c (HbA1c), both of which can put their life at risk. The ongoing management of T1DM can also be extremely challenging for parents, as requiring family support for both the physical and psychological care of the children.
  • 857
  • 21 Jan 2021
Topic Review
Pharmacological Treatment of Pediatric Asthma
Bronchial asthma is one of the most common chronic conditions in pediatric practice, with increasing prevalence hampered by poor socioeconomic impacts, leading to major public health issues. Considered as a complex heterogeneous syndrome, not a single disease, the management of the disease is a real challenge, impacting medical staff, patients and caregivers. 
  • 857
  • 23 Dec 2022
Topic Review
Absorption and Bioavailability of Preterm Infants' Pharmacokinetics
Drug absorption is the process of drug transportation from the site of administration to the systemic circulation and the fraction of unmetabolized drug that reaches the systemic blood flow is bioavailability. It is affected by multiple facrtors, including age. The process of maturation of organs and systems in newborns contributes to the changes in the drugs absorption, and variability is also seen between full term and preterm infants in this respect. 
  • 847
  • 28 Mar 2023
Topic Review
Transition Care in Rheumatology
The transition from pediatric to adult health care is a challenging yet important process in rheumatology as most childhood-onset rheumatic diseases persist into adulthood. Numerous reports on unmet needs as well as evidence of negative impact from poor transition have led to increased efforts to improve transition care, including international guidelines and recommendations. In line with these recommendations, transition programs along with transition readiness assessment tools have been established. This entry focuses on how transition care in rheumatology has developed in recent years and highlights the gaps in current practices.
  • 845
  • 02 Mar 2021
Topic Review
Oral Probiotics and Allergic Rhinitis
Allergic rhinitis (AR) is a respiratory disease caused by an IgE-mediated inflammatory process mediated by one or more antigens (allergens) against which the subject is sensitized. The most common symptoms are rhinorrhea, sneezing, itching, nasal obstruction, and frequent conjunctivitis. However, drugs used to treat AR may accompany adverse side effects (e.g., dry mouth, drowsiness, dizziness related to anti-H1 drugs). The use of probiotics as an additional option is increasing globally. The consumption of probiotics is expected to modulate immune responses in AR patients, reduce the damage caused by inflammation, and restore a balanced gut microbiota. Gut microbiota is known to function as immunomodulator, barrier, and protective tool against infections. It is constituted of more than a trillion microorganisms reunited in a complex and dynamic ecosystem, regulating the immune system and systemic physiology.
  • 837
  • 16 Mar 2023
Topic Review
Neonatal Intestinal Dysbiosis as a Cause of Disease
The intestinal microbiota consists of trillions of bacteria, viruses, and fungi that achieve a perfect symbiosis with the host. They perform immunological, metabolic, and endocrine functions in the body. The microbiota is formed intrauterine. Dysbiosis is a microbiome disorder characterized by an imbalance in the composition of the microbiota, as well as changes in their functional and metabolic activities. The causes of dysbiosis include improper nutrition in pregnant women, hormone therapy, the use of drugs, especially antibiotics, and a lack of exposure to the mother’s vaginal microbiota during natural birth. Changes in the intestinal microbiota are increasingly being identified in various diseases, starting in the early neonatal period into the adult period. It has become more and more obvious that the components of the intestinal microbiota are crucial for the proper development of the immune system, and its disruption leads to disease.
  • 831
  • 24 Mar 2023
Topic Review
Different Vitamin D Supplementation Strategies
Vitamin D (VD) is an essential micronutrient with multiple functions for human growth, and adequate intake should be guaranteed throughout life. However, VD insufficiency is observed in infants all over the world. Low VD concentration in the breast milk of non-supplemented mothers and low compliance to VD daily supplementation are the main causes of VD insufficiency, especially in the long term. Furthermore, VD supplementation dosages are still debated and differ by country. Different dosages and supplementation strategies result in similar VD sufficiency rates. Therefore, international guidelines may be revised in the future to offer multiple and different options of supplementation for specific settings and ages.
  • 829
  • 20 Jun 2022
Topic Review
Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is an X-linked recessive lethal disease that predominantly affects males, with an incidence of one case per 3500–9000 live births.
  • 828
  • 15 Sep 2021
Topic Review
Pseudomalignancies in Children
The term “pseudomalignancy” covers a large, heterogenous group of diseases characterized by a benign cellular proliferation, hyperplasia, or infiltrate that resembles a true malignancy clinically or histologically.
  • 825
  • 03 Nov 2021
Topic Review
Congenital Cytomegalovirus and Hearing Loss
In developed countries, congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection, representing the leading non-genetic cause of sensorineural hearing loss (HL). Diagnosis of cCMV infection can be performed by detection of CMV DNA in urine or saliva within 2–3 weeks after birth, or later in dried blood samples on the Guthrie card. There are many controversies regarding the preventive, diagnostic, and therapeutic approaches to cCMV infection. HL secondary to cCMV is highly variable in onset, side, degree, audiometric configuration, and threshold changes over time.
  • 821
  • 24 Jul 2023
Topic Review
Pain in Fetuses, Neonates and Children
Pain can be defined as “an unpleasant sensory and emotional experience associated with actual or potential tissue damage or described in terms of such damage”. Pain consists of two features: nociception and emotional reaction.
  • 819
  • 08 Nov 2022
Topic Review
Nasal Nitric Oxide in Children
Nasal nitric oxide (nNO) is a gas synthesized by the inducible and constitutive NO synthase (NOS) enzyme in the airway cells of the nasal mucosa. Like lung nitric oxide, it is thought to be associated with airway inflammation in various respiratory diseases in children. 
  • 819
  • 18 Oct 2023
Topic Review
Non-Obvious Complications of Obesity in Children
Obesity is currently one of the most significant public health challenges worldwide due to the continuous increase in obesity rates among children, especially younger children. Complications related to obesity, including serious ones, are increasingly being diagnosed in younger children. Symptoms such as feelings of hunger and behavioral and mood disorders, from agitation and irritation to slowness and drowsiness, weakness, even loss of consciousness, increased sweating, and heart palpitations, occur in people without diabetes and are associated with a rapid decrease in blood glucose concentration in response to a carbohydrate-rich food stimulus.
  • 818
  • 22 Dec 2023
Topic Review Peer Reviewed
Vibroacoustic Pollution in the Neonatal Ward
Excessive noise pollution is often a problem for neonatal nurseries. Noise pollution involves not only noise but also vibrations. The main difference between them is that noise can be heard, and vibrations are felt. The human ear cannot detect waves outside the range of 20 Hz–20 KHz. Waves from 0 Hz to 80–100 Hz should be considered vibrations. Both can be transmitted to the neonate through the incubator’s operational mechanisms and other noise sources. Neonatal units’ noise is well studied but very little is known about vibration. This entry focuses on the importance of vibrations reaching the inside of incubators in neonatal nurseries.
  • 813
  • 25 Dec 2023
Topic Review
Microbiota and Pregnancy
Human bacterial colonization starts during fetal life, in opposition to the previous paradigm of the “sterile womb”. Placenta, amniotic fluid, cord blood and fetal tissues each have their own specific microbiota, influenced by maternal health and habits and having a decisive influence on pregnancy outcome and offspring outcome. The maternal microbiota, especially that colonizing the genital system, starts to influence the outcome of pregnancy already before conception, modulating fertility and the success rate of fertilization, even in the case of assisted reproduction techniques. During the perinatal period, neonatal microbiota seems influenced by delivery mode, drug administration and many other conditions. Special attention must be reserved for early neonatal nutrition, because breastfeeding allows the transmission of a specific and unique lactobiome able to modulate and positively affect the neonatal gut microbiota.
  • 802
  • 17 Mar 2021
Topic Review
The Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities with a mild to severe ocular, gastrointestinal and neurological involvement. It is an autosomal dominant syndrome, with complete penetrance, caused by heterozygous pathogenic variants in the genes BRAF, MAP2K1/MEK1, MAP2K2/MEK2, KRAS or, rarely, YWHAZ, all part of the RAS-MAPK pathway. This pathway is a signal transduction cascade that plays a crucial role in normal cellular processes such as cell growth, proliferation, differentiation, survival, metabolism and migration. CFC syndrome overlaps with Noonan syndrome, Costello syndrome, neurofibromatosis type 1 and Legius syndrome, therefore making the diagnosis challenging.
  • 799
  • 06 Dec 2023
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