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Topic Review
Inherited Defects in Collagen and Collagen-Related Genes
Congenital arthrogryposis (CA) refers to the presence of multiple contractures at birth. It is a feature of several inherited syndromes, notable amongst them are disorders of collagen formation.
  • 563
  • 06 Sep 2023
Topic Review
Gut Bacteria in Hirschsprung-Associated Diseases
Hirschsprung disease (HSCR) is a congenital malformation of the enteric nervous system, characterized by the absence of ganglion cells in the distal intestine, resulting in spastic contractions at the affected bowel, and functional obstruction of the intestine above the aganglionic levels. The worldwide incidence of HSCR is approximately 1 in 5000 live births with various spectrums of defective involvements, clinical manifestations, and outcomes of treatment. Up to now, the only treatment of choice for HSCR is surgery by resection of an aganglionic bowel segment and reconstruction of the normally innervated intestine to the anus.
  • 561
  • 01 Mar 2022
Topic Review
Tracheostomy in Severe Bronchopulmonary Dysplasia
Infants with the most severe forms of bronchopulmonary dysplasia (BPD) may require long-term invasive positive pressure ventilation for survival, therefore necessitating tracheostomy. Although life-saving, tracheostomy has also been associated with high mortality, postoperative complications, high readmission rates, neurodevelopmental impairment, and significant caregiver burden, making it a highly complex and challenging decision. However, for some infants tracheostomy may be necessary for survival and the only way to facilitate a timely and safe transition home. The specific indications for tracheostomy and the timing of the procedure in infants with severe BPD are currently unknown.
  • 559
  • 27 Nov 2023
Topic Review
The Treament of Allergic Rhinitis in Children
Although it is commonly under-diagnosed and under-treated, it causes important social and economic effects (diminished quality of life, poor academic performance, escalated medical visits, heightened medication usage, and effects in other chronic conditions, e.g., asthma).The classification of allergic rhinitis hinges upon its nature and chronic distribution (seasonal or perennial) and its intensity, which spans from mild to moderate and severe. The diagnostic process primarily relies upon recognizing key clinical indicators, evaluating historical records, and considering risk factors.  The treatment of allergic rhinitis in children is mainly chronic and is focused on allergen exposure prevention, drug therapy, and immunotherapy in severe cases. Treatment of allergic rhinitis is complex and multi-dimensional, requiring an effective approach by a specialized group of specialized pediatricians, and is severely affected by the concurrent presence or development of other diseases in the spectrum of allergic diseases (conjunctivitis, asthma).
  • 552
  • 18 Oct 2023
Topic Review
Kidney Failure in Extrapulmonary Sarcoidosis in Children
Sarcoidosis is a non-necrotizing granulomatous inflammatory multisystemic disorder of unknown etiology. In children, as in adults, it can involve a few or all organ systems to a varying extent and degree, entailing multisystemic manifestations. Kidney involvement in pediatric-onset adult-type sarcoidosis is rare, with a wide range of renal manifestations, most of them related to calcium metabolism. Children with renal sarcoidosis tend to be more symptomatic than adults, although male patients have a higher prevalence.
  • 548
  • 20 Apr 2023
Topic Review
Folic Acid in Maternal, Perinatal, and Paediatric Health
Folates refer to a class of B9 vitamers with a basic structure composed of heterocyclic pteridine moiety covalently linked via a C9-N10 methylene bridge to p-aminobenzoylglutamate. Auxotrophic primates like human beings rely on exogenous dietary vitamin B9 supplementation to meet their metabolic demands. Folates play a crucial role in nucleotide synthesis and DNA methylation. Maternal folate deficiency causes several pregnancy-related complications, perinatal defects, and early childhood cognitive impairments.
  • 542
  • 18 Oct 2023
Topic Review
Basis for Treatment of  Patent Ductus Arteriosus
Ductus arteriosus (DA) serves a crucial role in utero by redirecting the oxygenated blood away from the fluid-filled fetal lungs, and towards the systemic circulation for optimal fetal development. Typically, in term infants, DA undergoes functional constriction and closure within 1–3 days after birth, followed by tissue remodeling to ensure permanent closure. However, the DA may remain persistently patent postnatally, especially in very preterm infants, and is commonly referred to as patent ductus arteriosus (PDA). Its prevalence is inversely proportional to gestational age; more than 60% of preterm infants under 28 weeks of gestational age (GA) continue to have PDA 7 days after birth or longer. 
  • 534
  • 05 Jan 2024
Topic Review
Acute Phase/Relapse of Nephrotic Syndrome
Nephrotic syndrome (NS) is a common pediatric disease characterized by a dysfunction in the glomerular filtration barrier that leads to protein, fluid, and nutrient loss in urine. Corticosteroid therapy is the conventional treatment in children. Long-term complications of NS and prolonged exposure to steroids affect bones, growth, and the cardiovascular system. Diet can play an important role in preventing these complications, but there is a scarcity of scientific literature about nutritional recommendations for children with NS.
  • 531
  • 10 Aug 2023
Topic Review
Pediatric Anaplastic Lymphoma Kinase-Positive Anaplastic Large Cell Lymphoma
Anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) is an aggressive T-cell lymphoma characterized by large T-cells with strong CD30 and ALK expression. Although conventional chemotherapy is effective in most patients, approximately 30% experience a relapse or refractory disease and have a poor prognosis. Several risk factors associated with poor prognosis have been identified in pediatric ALK-positive ALCL. These include morphological patterns with the small cell variant or lymphohistiocytic variant, leukemic presentation, the presence of minimal disseminated disease, or involvement of the central nervous system. Relapsed or refractory ALK-positive ALCL is often resistant to conventional chemotherapy; therefore, salvage therapy is required. In recent years, targeted therapies such as ALK inhibitors and brentuximab vedotin (BV) have been developed. ALK inhibitors block the continuous activation of ALK kinase, a driver mutation that leads to cell proliferation in ALK-positive ALCL. Additionally, BV is an antibody–drug conjugate that targets CD30-positive cells. Both ALK inhibitors and BV have displayed dramatic effects in chemoresistant ALK-positive ALCL. Weekly vinblastine treatment and hematopoietic stem cell transplantation have also been reported to be effective therapies. 
  • 530
  • 29 Dec 2023
Topic Review
Pedicle Screw Placement for Treating Adolescent Idiopathic Scoliosis
Posterior spinal fusion (PSF) and segmental spinal instrumentation (SSI) using pedicle screws (PS) is the most used procedure to correct adolescent idiopathic scoliosis. Computed navigation, robotic navigation, and patient-specific drill templates are available, besides the first described free-hand technique. None of these techniques are recognized as the gold standard. 
  • 527
  • 16 Oct 2023
Topic Review
Ventilator-Associated Pneumonia
Ventilator-associated pneumonia (VAP) is defined as pneumonia not present or incubating at the time of admission and occurring after more than 48 hours of mechanical ventilation (MV). This is the second-most common healthcare-associated infection (HAI) in neonatal intensive care units (NICUs). VAP is associated with increased morbidity and mortality, an increased length of stay in the NICU and hospital costs.
  • 519
  • 31 Jan 2024
Topic Review
Neonatal Physiologic Changes Affecting Drug Disposition Process
Neonates are the most physiologically immature and vulnerable to drug dosing. There is a pronounced difference in the anatomical and physiological profiles between neonates and older people, affecting the absorption, distribution, metabolism, and excretion of drugs in vivo, ultimately leading to changes in drug concentration. 
  • 517
  • 25 Dec 2023
Topic Review
Infections in Disorders of Immune Regulation
Primary immune regulatory disorders (PIRDs) constitute a spectrum of inborn errors of immunity (IEIs) that are primarily characterized by autoimmunity, lymphoproliferation, atopy, and malignancy. In PIRDs, infections are infrequent compared to other IEIs. While susceptibility to infection primarily stems from antibody deficiency, it is sometimes associated with additional innate immune and T or NK cell defects. The use of immunotherapy and chemotherapy further complicates the immune landscape, increasing the risk of diverse infections. Recurrent sinopulmonary infections, particularly bacterial infections such as those associated with staphylococcal and streptococcal organisms, are the most reported infectious manifestations. Predisposition to viral infections, especially Epstein–Barr virus (EBV)-inducing lymphoproliferation and malignancy, is also seen. Notably, mycobacterial and invasive fungal infections are rarely documented in these disorders. Knowledge about the spectrum of infections in these disorders would prevent diagnostic delays and prevent organ damage. 
  • 507
  • 22 Mar 2024
Topic Review
Pediatric Echinococcosis of the Liver in Austria
Echinococcosis is considered a neglected disease in most European countries. However, migratory flows of populations, long-term stays in endemic areas, uninterrupted tourism (travel to Echinococcus-endemic countries), traveling dogs and dog translocations from endemic areas, and inappropriate hygiene practices are potential factors that alarm public health officials. Identifying a cyst-like mass in the liver or lung of an individual with a travel history of likely exposure to sheepdogs in an area where the parasite Echinococcus (E.) granulosus (sive cysticus) is endemic advocates for a prompt preliminary diagnosis of cystic echinococcosis (CE), no matter the age of the affected individuals. 
  • 503
  • 14 Apr 2023
Topic Review
PBPK Models in Postpartum Women and Breastfed Infants
Physiologically based pharmacokinetic (PBPK) modelling is a bottom-up approach to predict pharmacokinetics in specific populations based on medicine-specific and population-specific data, such as physiology - A contribution from the ConcePTION Project. 
  • 496
  • 17 Nov 2023
Topic Review
Biological references for 17OHP, IRT, biotinidase in newborns
Neonatal deaths, which usually occur in the first week after delivery, account for nearly 75 percent of all deaths of children under 5 years of age. Prematurity, birth difficulties, infections, and birth defects are responsible for about 40 percent of these deaths. Although mortality rates have declined since 2000, access to quality healthcare remains a major problem for mothers and infants worldwide. In perspective, the present study aimed to establish clear biological reference intervals for 17α-hydroxyprogesterone (17-OHP), immunoreactive trypsinogen (IRT), and biotinidase in Indian neonates. The statistical analysis of data from up to 3200 dried blood spot (DBS) samples of Indian newborns provided valuable information for the new cut-off values in newborn screening (NBS) programs. We applied correlation analysis to fix the relationship for NBS parameters such as 17-OHP, IRT, and biotinidase. This study provided important information about the distribution and comparison of key cut-offs for biomarkers considering body weights and gestational age in the Indian newborn population for the first time, which can help healthcare experts make easier treatment decisions.
  • 493
  • 29 Apr 2025
Topic Review
Polysomnography in the Diagnosis of Sleep-Disordered Breathing
Obstructive sleep-disordered breathing (SDB) is a spectrum of different clinical conditions distinguished by upper-airway dysfunction during sleep with snoring and/or increased respiratory effort due to increased upper airway resistance and pharyngeal collapsibility. Diagnostic methods for SDB in children involve a combination of clinical assessment, medical history evaluation, questionnaires, and objective measurements. Polysomnography (PSG) is the diagnostic gold standard. It records activity of brain and tibial and submental muscles, heart rhythm, eye movements, oximetry, oronasal airflow, abdominal and chest movements, body position. Despite its accuracy, it is a time-consuming and expensive tool.
  • 492
  • 18 Aug 2023
Topic Review
Management of Obesity in Children and Adolescents
Obesity is a multifactorial chronic impairment that further decreases quality of life and life expectancy. Worldwide, childhood obesity has become a pandemic health issue causing several comorbidities that frequently present already in childhood, including cardiovascular (hypertension, dyslipidemia), metabolic (Type 2 diabetes mellitus, fatty liver disease, metabolic syndrome), respiratory, gastrointestinal and musculoskeletal disorders.
  • 492
  • 16 Oct 2023
Topic Review
Pancreatic Trauma in Children and Its Early Diagnosis
Blunt pancreatic injury (BPI) is relatively uncommon in children, and is associated with relatively high morbidity and mortality, especially if diagnosis is delayed. Blunt trauma represents the primary cause of pancreatic injury in the pediatric population. Pancreatic trauma in children remains a major challenge for emergency physicians as well as general and pediatric surgeons. Its rate of occurrence is 0.2–2%, and it contributes to 0.3% of all childhood injuries.
  • 492
  • 22 Feb 2024
Topic Review
Cystic Fibrosis Transmembrane Conductance Regulator and Diabetes
The most common inherited condition that results in death, particularly in those of Caucasian heritage, is cystic fibrosis (CF). Of all the young adults diagnosed with cystic fibrosis, 20% will develop hyperglycemia as a complication, later classified as a disease associated with cystic fibrosis. Impaired insulin secretion and glucose intolerance represent the primary mechanisms associated with diabetes (type 1 or type 2) and cystic fibrosis.
  • 489
  • 07 Oct 2023
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