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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.
  • 523
  • 24 Jul 2023
Topic Review
Elective Early Upper Gastrointestinal Study
Assessment of discomfort as a sign for early postoperative complications in neurologically impaired (NI) children is challenging. The necessity of early routine upper gastrointestinal (UGI) contrast studies following laparoscopic Nissen fundoplication in NI children is unclear.  It aimed to evaluate the role of scheduled UGI contrast studies to identify early postoperative complications following laparoscopic Nissen fundoplication in NI children. Data for laparoscopic Nissen fundoplications performed in NI children between January 2004 and June 2021 were reviewed. A total of 103 patients were included, with 60 of these being boys. Mean age at initial operation was 6.51 (0.11–18.41) years. Mean body weight was 16.22 (3.3–62.5) kg. Mean duration of follow up was 4.15 (0.01–16.65 years) years. Thirteen redo fundoplications (12.5%) were performed during the follow up period; eleven had one redo and two had 2 redos. Elective postoperative UGI contrast studies were performed in 94 patients (91%). Early postoperative UGI contrast studies were able to identify only one complication: an intrathoracal wrap herniation on postoperative day five, necessitating a reoperation on day six. The use of early UGI contrast imaging following pediatric laparoscopic Nissen fundoplication is not necessary as it does not identify a significant number of acute postoperative complications requiring re-intervention. 
  • 515
  • 23 Nov 2021
Topic Review
Nonsynostotic Plagiocephaly
The dissertation, comprising a clinical intervention and three supporting studies, aimed to assess if it is possible to prevent nonsynostotic plagiocephaly while promoting safe infant sleeping practices. Five individuals were trained to assess cranial asymmetry and then reliability-tested; the interpreted results indicate substantial strength of rater-agreement. Intervention participants were allocated to group. Only intervention group nurses participated in the continuing education on plagiocephaly developed for nurses. A survey compared information intervention and control group parents received from nurses; intervention group parents were significantly more aware of recommendations than the control group parents. The nurse education was evaluated by asking intervention and control group nurses and parents two open-ended questions; the intervention group nurses and parents reported new re-positioning strategies. The effect of the intervention on cranial shape was evaluated by assessing asymmetry at 2, 4, and 12 months (176 intervention group; 92 controls). It was nine times more common that cranial asymmetry at two months reversed by four months when parents were aware of written recommendations from their nurse (OR = 9.09 [0.02; 0.48], p = 0.004) when adjusted for group. An infant’s risk of asymmetry persisting until 12 months was significantly reduced in the intervention group (RR = 0.35 [0.13; 0.94], p = 0.03). Preventing brachycephaly was difficult. Conclusions: the assessors were considered reliable; educating nurses promoted the integration of new recommendations in practice; the intervention was associated with early reversal of nonsynostotic plagiocephaly.
  • 513
  • 14 Dec 2020
Topic Review
Etiopathogenesis of Hypertension with Insulin Resistance in Children
Insulin resistance (IR) is a key component in the etiopathogenesis of hypertension (HS) in patients with diabetes mellitus (DM). The higher risk of developing cardiovascular morbidity in children with a youth-onset Type 2 DM (T2D) is well known. Longitudinal data from the Treatment Options for T2D in Adolescents and Youth (TODAY) study revealed that in a group of 677 participants with a mean age of 14 ± 2 years the cumulative incidence of HS, LDL-C dyslipidemia, and hypertriglyceridemia was 59%, 33%, and 37% respectively and at the end of a mean 10.2 ± 4.5 years follow-up 54% had ≥2 cardiovascular risk factors in addition to T2D.
  • 511
  • 08 Jun 2022
Topic Review
Metabolomic Profiling in Children with Celiac Disease
Celiac disease (CD) is included in the group of complex or multifactorial diseases, i.e., those caused by the interaction of genetic and environmental factors. Despite a growing understanding of the pathophysiological mechanisms of the disease, diagnosis is still often delayed and there are no effective biomarkers for early diagnosis. The only current treatment, a gluten-free diet (GFD), can alleviate symptoms and restore intestinal villi, but its cellular effects remain poorly understood. To gain a comprehensive understanding of CD’s progression, it is crucial to advance knowledge across various scientific disciplines and explore what transpires after disease onset. Metabolomics studies hold particular significance in unravelling the complexities of multifactorial and multisystemic disorders, where environmental factors play a significant role in disease manifestation and progression. 
  • 510
  • 10 Jul 2023
Topic Review
Microbiomes Associated with the Early Life Development
The human body harbors trillions of microbes of different kinds performing various physiological activities, such as priming the immune system, influencing host metabolism, and improving health by providing important metabolites such as short-chain fatty acids. Although the gut is considered the “microbial organ” of our body as it hosts the most microbes, there are microbes present in various other important anatomical locations differing in numbers and type. Research has shown the presence of microbes in utero, sparking a debate on the “sterile womb” concept, and there is much scope for more work in this area. It is important to understand the early-life microbiome colonization, which has a role in the developmental origins of health and disease in later life. 
  • 506
  • 01 Feb 2023
Topic Review
Congenital Hyperinsulinaemic Hypoglycaemia
Hyperinsulinaemic hypoglycaemia (HH) is the most common cause of persistent hypoglycaemia in infants and children with incidence estimated at 1 per 50,000 live births. Congenital hyperinsulinism (CHI) is symptomatic mostly in early infancy and the neonatal period. Symptoms range from ones that are unspecific, such as poor feeding, lethargy, irritability, apnoea and hypothermia, to more serious symptoms, such as seizures and coma. During clinical examination, newborns present cardiomyopathy and hepatomegaly. The diagnosis of CHI is based on plasma glucose levels <54 mg/dL with detectable serum insulin and C-peptide, accompanied by suppressed or low serum ketone bodies and free fatty acids.
  • 501
  • 15 Dec 2022
Topic Review
Parenteral Nutrition on Gut Microbiota in Pediatric Population
Parenteral nutrition (PN) is a life-saving therapy providing nutritional support in patients with digestive tract complications, particularly in preterm neonates due to their gut immaturity during the first postnatal weeks. Despite this, PN can also result in several gastrointestinal complications that are the cause or consequence of gut mucosal atrophy and gut microbiota dysbiosis, which may further aggravate gastrointestinal disorders. Consequently, the use of PN presents many unique challenges, notably in terms of the potential role of the gut microbiota on the functional and clinical outcomes associated with the long-term use of PN.
  • 497
  • 18 Nov 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.
  • 495
  • 15 Sep 2021
Topic Review
Cytomegalovirus Infection
Cytomegalovirus (CMV) is able to replicate in the breast milk of lactating mothers and thus the offspring might be affected by mild to severe symptoms of postnatal CMV disease in case of prematurity; not in term infants.
  • 490
  • 20 Apr 2022
Topic Review
Epigenetic Effects of Human Milk on Infants’ Neurodevelopment
The advantages of human milk feeding, especially in preterm babies, are well recognized. Infants’ feeding with breast milk lowers the likelihood of developing a diverse range of non-communicable diseases later in life and it is also associated with improved neurodevelopmental outcomes. Although the precise mechanisms through which human milk feeding is linked with infants’ neurodevelopment are still unknown, potential epigenetic effects of breast milk through its bioactive components, including non-coding RNAs, stem cells and microbiome, could at least partly explain this association. Micro- and long-non-coding RNAs, enclosed in milk exosomes, as well as breast milk stem cells, survive digestion, reach the circulation and can cross the blood–brain barrier. Certain non-coding RNAs potentially regulate genes implicated in brain development and function, whereas nestin-positive stem cells can possibly differentiate into neural cells or/and act as epigenetic regulators in the brain.
  • 486
  • 22 Aug 2023
Topic Review
Specificities of Urolithiasis in Pediatrics
Renal lithiasis is less frequent in children than in adults; in pediatrics, lithiasis may be caused by genetic abnormalities, infections, and complex uropathies, but the association of urological and metabolic abnormalities is not uncommon. 
  • 484
  • 09 Feb 2023
Topic Review
Genomic Aberrations in Neurodevelopmental Disorders
Genomic studies are increasingly revealing that neurodevelopmental disorders are caused by underlying genomic alterations. Chromosomal microarray testing has been used to reliably detect minute changes in genomic copy numbers. The genes located in the aberrated regions identified in patients with neurodevelopmental disorders may be associated with the phenotypic features. In such cases, haploinsufficiency is considered to be the mechanism, when the deletion of a gene is related to neurodevelopmental delay. The loss-of-function mutation in such genes may be evaluated using next-generation sequencing. On the other hand, the patients with increased copy numbers of the genes may exhibit different clinical symptoms compared to those with loss-of-function mutation in the genes. In such cases, the additional copies of the genes are considered to have a dominant negative effect, inducing cell stress. In other cases, not the copy number changes, but mutations of the genes are responsible for causing the clinical symptoms. 
  • 482
  • 28 Mar 2022
Topic Review
Macrometabolic Associations in Asthma
Asthma is a heterogenous disorder driven by inflammatory mechanisms that result in multiple phenotypes. Given the complex nature of this condition, metabolomics is being used to delineate the pathobiology of asthma. Metabolomics is the study of metabolites in biology, which includes biofluids, cells, and tissues. These metabolites have a vital role in a disease as they contribute to the pathogenesis of said condition.
  • 481
  • 08 Feb 2023
Topic Review
Caudal Duplication Syndrome
Caudal duplication syndrome (CDS) is a rare association of anatomical anomalies describing duplication of the hindgut, spine, and uro-genital structures, leading to varied clinical presentations.
  • 479
  • 13 Apr 2021
Topic Review
Children's Continuous Infusion of Vancomycin
Vancomycin is a glycopeptide antibiotic used to treat a wide variety of systemic Gram-positive infections, including methicillin resistantStaphylococcus aureus(MRSA) and methicillin resistant coagulase-negativeStaphylococcus(MRCNS) in adult and pediatric populations. Vancomycin exhibits time-dependent bactericidal activity, meaning that the time in which the concentration of the drug in the body is above the minimum inhibitory concentration (MIC) affects antimicrobial efficacy.
  • 476
  • 10 Aug 2021
Topic Review
Antioxidant Supplements and Type 2 Diabetes Prevention
Oxidative stress (OxS) is a physiologically significant alteration in redox status resulting from the overproduction of reactive species and or the reduction in antioxidant defenses. Oxidative stress (OxS) has emerged as a likely initiating factor in T2D. Antioxidant supplements may act to slow or prevent T2D by multiple mechanisms, i.e., (1) reducing mitochondrial oxidative stress, (2) preventing the damaging effects of lipid peroxidation, and (3) acting as essential cofactors for antioxidant enzymes. 
  • 474
  • 01 Jun 2023
Topic Review
Glycogen Storage Patients
Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype–phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in the GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. A heterogeneous group of all diagnosed GSDs over a 5-year period was characterized in the institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype–phenotype correlation in GSDs.
  • 472
  • 29 Mar 2022
Topic Review
In Vivo Organ/Tissue Genome Editing in Newborn Pups
Germline manipulation is based on gene delivery to early embryos, such as fertilized eggs (zygotes), through pronuclear microinjection of nucleic acids, electroporation (EP) in the presence of nucleic acids, or transduction in the presence of viral vectors.
  • 472
  • 30 Oct 2023
Topic Review
Neonatal Diabetes and Gestational Diabetes Mellitus
Neonatal diabetes (NDM) is rare and presents in infants up to 6 months of age. Gestational diabetes mellitus (GDM), characterized by increased peripheral insulin resistance (IR), may cause fetal complications, including weight gain, glucose intolerance, and death. However, its effect on NDM remains uncertain.
  • 471
  • 06 May 2023
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