The increased prevalence of allergic diseases observed in the last decades may be caused by intestinal dysbiosis occurring in the year first years of life. The article presents the main points from a paper published in Nutrients in 2020, which focused on the relation between intestinal microbiota composition and the risk of allergic diseases.

Opracowanie na podstawie: Cukrowska B, Bierła JB, Zakrzewska M i wsp. The Relationship between the Infant Gut Microbiota and Allergy. The Role of Bifidobacterium breve and Prebiotic Oligosaccharides in the Activation of Anti-Allergic Mechanisms in Early Life. Nutrients 2020;12:946.

I

The authors of the presented publication assessed the effectiveness of symptom relief, tolerance acquisition rates and the risk of further allergic diseases in infants allergic to cow’s milk proteins, managed with two types of hypoallergenic milk replacement formulas, in symptoms that GP physicians described as allergy to cow’s milk protein. The observation period available in each of medical records was at least 12 months, and the assessment of the occurrence of symptoms and the risk of appearance of further symptoms of allergic disease (allergic march) was 24 months from the introduction of dietary treatment (milk replacement formula). Authors have compared the real data based effectiveness of cow’s milk protein hydrolysates, recommended as first-line formula for cow milk protein allergy dietary management: casein hydrolyzate with the presence of Lactobacillus rhamnosus GG (eHCF + LGG) and whey protein hydrolyzate (eHWF). The source data evaluated was an anonymous documentation of 940 patients managed in Great Britain, recorded in several hundred health care facilities, by their first contact physicians (Real Evidence Data-REA), and collected in the THIN electronic database, representative and validated for the population. A higher effectiveness of dietary treatment was demonstrated in the group of patients allergic to cow’s milk proteins receiving eHCF+LGG formula compared to the group of patients receiving eHWF milk replacement formula.

II

Nowadays, a lot of scientific research is carried out to develop a strategic and comprehensive approach to the benefits of medical care at the highest level, which is reflected in investment projects and technology. Clinical trials both observational and interventional as well as analyzes of clinical practice and registries, prospective or retrospective, all create a basis for evidence-based medical decision-making. In order to fully use the potential of available data, management strategy in healthcare should be concentrated on developing evidence-based solutions, verified by clinical practice to be able to improve innovative models of healthcare.

Zbiór artykułów:

Skuteczność stosowania mieszanki zawierającej silnie zhydrolizowaną frakcję kazeiny wzbogaconej w Lactobacillus rhamnosus GG, w porównaniu z mieszanką z intensywnie zhydrolizowaną frakcją białek serwatkowych, w leczeniu alergii na białka mleka krowiego u niemowląt

Badanie typu RWE – źródła danych oraz zastosowania w podejmowaniu decyzji systemowych i klinicznych

Diagnosis and treatment of infants with functional gastrointestinal disorders is based on a thorough medical history and physical examination. The COVID-19 pandemic has forced the use of telemedicine which complicated medical care of these patients. The authors present proposal of an algorithm for the management of the most common functional gastrointestinal disorders (infantile colic, infant regurgitation) in infancy, considering the peculiarity of the period of social distance caused by the COVID-19 pandemic.

Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder belonging to a group of multiple congenital anomaly syndromes with overlapping neuro-cardio-facial-cutaneous manifestations, called RASopathies. Congenital cardiac pathologies, found in approximately 80-90% of NS patients, significantly affect the clinical course of the disease and prognosis. Most often, children with NS have pulmonary valve stenosis and hypertrophic cardiomyopathy. NS and other RASopathies share molecular pathomechanism, associated with defects in genes encoding protein components of the Ras/mitogen-activated protein kinase signaling pathway (RAS/MAPK). So far, over 15 different genes are known to correlate with NS etiology and 23 genes are associated with the clinical spectrum of all RASopathies. Therefore, research and diagnostics of these disorders require the use of innovative molecular biology methods, including next-generation sequencing. This paper presents a concise compendium of current knowledge that provides guidance on clinical and molecular diagnostic procedures in Noonan syndrome, with an emphasis on congenital heart pathologies.

Praca powstała częściowo w ramach realizacji grantu statutowego Instytutu „Pomnik – Centrum Zdrowia Dziecka” nr S176/2018 oraz przewodu doktorskiego mgr Magdaleny Pelc.

Hyperglycemia in newborn is most often defined as blood glucose > 125 mg/dl (6,9 mmol/l) or serum glucose > 150 mg/dl (8,3 mmol/l). Neonatal hyperglycemia does not present with typical clinical symptoms unless plasma hyperosmolarity and osmotic diuresis develops. This state leads to severe dehydration, electrolyte imbalance and intracranial hemorrhage. Neonatal hyperglycemia usually occurs due to severe general condition in course of sepsis and/or stress, it may be also caused iatrogenic. Neonatal diabetes mellitus is a rare genetically conditioned disorder. The paper discusses causes, basic and extended diagnostic approach and current guidelines concerning hyperglycemia in newborns.

Prader-Willi syndrome (PWS) is a rare genetic disorder that results from lack of paternally-inherited genes on chromosome 15q11-q13. The clinical picture of PWS, besides typical dysmorphic characteristics, includes many disorders that most probably derive from hypothalamic function disruption. The most common are hyperphagia and development of morbid obesity and hormonal disorders. Nowadays the multidisciplinary approach and the possibility of growth hormone treatment improve the patients’ development.

The article focuses on recognizing feeding and swallowing problems in patients suffering from spinal muscular atrophy. It justifies and proposes a systematic assessment status of swallowing difficulties and emphasizes the importance of a long-term strategy of care and intervention.

Primary hypoparathyroidism (PHP) can occur from: The absence of parathyroid hormone (PTH), insufficient secretion of parathyroid hormone or the secretion of a biologically inactive molecule of this hormone, which in turn leads to a decrease in calcium levels and an increase in serum phosphate levels. Primary hypoparathyroidism (PHP) is a rare disease, the incidence in adults is estimated to be about 1 to 1.5:5000 in which about 80% occurs after surgery in the neck area. PHP in children is diagnosed much less frequently (no precise epidemiological data available), congenital and acquired (autoimmune) causes predominate due to sporadic surgery in the neck area. In children, PHP occurs with the same frequency in both sexes. The most common cause of hypoparathyroidism in children is aplasia or hypoplasia of the parathyroid gland in the course of Di George syndrome (del 22q11.2, frequency 1 in 4000-5000 live births), which accounts for 60%-70% of all cases of isolated congenital hypoparathyroidism. In the differential diagnosis, activating mutation of calcium-sensing receptor (CaSR) causing hypocalcaemia, inherited autosomally dominant with hypercalciuria, should be considered.

Histamine is a key mediator of the allergic reaction, released from mast cells and basophils, whose biological activity takes place via 4 types of H1, H2, H3 and H4 receptors. Antihistamine drugs (AH1) modulate H1 receptor activity. Their safety criterion is the selectivity of H1 receptor activity and the absence or limited saturation of H1 receptors within the central nervous system (CNS). On this basis, AH1 can be divided into two groups - first and second generation drugs. First-generation drugs are non-selective for H1, they also act on other receptors and saturate > 50% of H1 receptors in the CNS, which determines their numerous side effects. Currently, the indications for use of AH1 I generation in children are strongly limited. 2nd generation AH1 show selective action only on H1 receptors, but the extent to which they saturate the H1 receptor in the CNS varies. Drugs with minimal influence on CNS are preferred. In children, the main indications for the use of 2nd generation AH1 are allergic rhino-conjunctivitis and urticaria.

Acute pericarditis is the most common form of pericardial disease in children. In most cases, it is of viral etiology and follows a relatively mild clinical course, with expected good prognosis. Diagnosis can be made based on typical clinical symptoms, ECG changes, and detection of pericardial effusion in echocardiography. Management includes restriction of physical activity and pharmacotherapy with nonsteroidal anti-inflammatory drugs and colchicine. This paper aims to present the clinical course, diagnostic criteria and work-up, as well as the management of pediatric patients with the most common forms of acute pericarditis.

Glutathione synthetase deficiency (GSD) is a rare inborn metabolic error of the gamma-glutamyl cycle. It results in low levels of glutathione and elevated levels of 5-oxyprolin. Symptoms are: chronic hemolytic anemia, metabolic acidosis and 5-oxoprolinuria. Severe GDS occurs with neurological impairment and immunodeficiency. Urine organic acid analysis (gas chromatography-mass spectrometry, GCMS) is basic diagnostic method. The diagnosis is confirmed enzymatically and molecularly. The treatment is conservative.

Congenital aortic stenosis accounts for 2-6% of all congenital heart defects and is the most common form of left ventricular outflow tract obstruction. Symptoms of the defect may appear already in the neonatal period, often taking form of critical stenosis. Incorrectly developed aortic valve leaflets cause constriction, which results in an increase in left ventricular pressure. The increase in afterload causes ventricular hypertrophy over time. The main diagnostic method is echocardiography, which allows to assess valve anatomy and the hemodynamic consequences. The method of treatment is percutaneous ballonoplasty or surgery. Due to re-stenosis or the appearance of aortic insufficiency, many patients require re-operations.

Infant regurgitation is one of the most common gastrointestinal functional disorders in infants. The review paper presents definitions, clinical feature and recommendation for treatment of infant regurgitation according to current guidelines of scientific societies. Three most important publications: Rome IV, British National Institute for Health and Care Excellence (NICE) recommendation, European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and North American Society for Paediatric Gastroenterology, Hepatology and Nutrition, (NASPGHAN) guidelines were discussed and compared. Restricted indications for performing clinical investigations and for pharmacological treatment were underlined. Most cases of infant regurgitation should be regarded as the symptom from the borderline of physiology. If medical intervention is needed, positional therapy and/or food thickening should be adequate.

N-acetylcysteine (NAC) is a unique mucolytic that liquefies mucus without increasing its volume. It is used in the treatment of a variety of bronchopulmonary disorders with a common element of viscous mucus, including chronic obstructive pulmonary disease (COPD) and cystic fibrosis. The main indication for NAC is a cough accompanying acute respiratory infections. NAC is also a precursor of glutathione with potent antioxidant properties. NAC is a specific antidote in paracetamol poisoning and contrast agents-induced nephropathy. NAC relieves the inflammatory process and oxidative stress accompanying inflammation; therefore, attempts are made to use it in numerous inflammatory and degenerative diseases. As a medication available without a medical prescription (OTC) or a dietary supplement (USA), it is widely used worldwide, including the EU, USA, Canada, and Australia.

The benefits of breastfeeding, such as the reduced risk of gastrointestinal and respiratory tract infections, depend largely on the presence of bioactive compounds in breast milk. Their presence also determines the differences between breast milk and infant formulas. This article is a continuation of a previously published paper discussing human milk oligosaccharides (HMOs). Currently, biotechnology allows producing large amounts of HMOs such as 2-fucosyllactose (2’-FL) and lacto-N-neotetraose (LNnT). However, other HMOs become available. Besides HMOs, other bioactive compounds present in human milk and added to infant formulas such as lactoferrin, osteopontin, milk fat globule membranes (MFGM), and bile salts-stimulated lipase (BSSL) are briefly discussed.

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disease. It affects 1 in 2500-3000 people. An autosomal dominant mutation in NF1 results in hyperactivation of the RAS pathway leading to the development of multiple tumors in different organs and increased risk of malignancies. NF1 is a progressive disorder involving many organs and systems. Symptoms develop and progress with age and clinical course varies between individuals. Currently, there is no causative treatment for NF1. Patients require multidisciplinary health care, regular follow-up considering the increased risk of malignancies. In the article, we provided the list of the centers specialized in the care of NF1 patients.

Vaccination remains the most effective method to prevent influenza. Children in the first five years of life are at high risk of hospitalization due to influenza and its complications. Although the availability of safe vaccination influenza, immunization rates remain suboptimal.

Objectives: In this study, we aimed to assess the effect of written information on influenza and vaccination on parental declared preparedness to vaccinate a hospitalized child. Additionally, the factors influencing this decision were analyzed. 

Materials and methods: We conducted a randomized controlled trial. We included in our study the caregivers of hospitalized children to experimental – receiving the survey with information about influenza itself and influenza vaccination or control group – receiving only the survey. The effect of intervention and vaccination influencing factors were tested for associations using chi-squared tests. 

Results: Of 70 surveys 65 (92% response rate) were analyzed (N = 35 vs n = 30). The effect of the intervention was not statistically significant between the groups. There were also no significant associations among factors influencing the immunization’s preparedness found.

Conclusions: Additional investigation is needed to evaluate the potential effect of particular information about influenza and influenza vaccination on a parental decision about vaccination

CHARGE syndrome is a rare, monogenic, clinically heterogenous congenital defects syndrome. The name is an acronym consisting of the first letters of English words describing developmental defects such as: C – Coloboma, H – Heart defects, A – choanal Atresia, R – Retarded growth and development, G – Genital abnormalities, E – Ear anomalies and deafness. This syndrome may also present as cranial nerve abnormalities leading to anosmia, facial nerve palsy and swallowing problems. Diagnosis of CHARGE syndrome is based on typical clinical symptoms, temporal bone imaging and finding a pathogenic variant in CHD7 gene. The characteristic feature of CHARGE syndrome is agenesis of semicircular canals, which is found in 90% of affected individuals and can be confirmed by CT or MRI of the temporal bones. In this study we present a detailed phenotypic analysis of 11 individuals with CHARGE syndrome, in whom a heterozygous pathogenic variant in CHD7 gene (confirming CHARGE syndrome diagnosis) was identified.

We present the case of a two-year-old girl admitted to the county hospital because of upper respiratory tract infection, who developed meningococcal sepsis after four days of hospitalization. The possible in this case hospital meningococcal infection is infrequent. We found only one case of meningococcal sepsis as a hospital-acquired infection in the Pubmed database.

The article discusses a case of a 6-year-old girl who was on a very restricted elimination diet for 2.5 years due to positive sIgE tests to a large number of food allergens. Such a diet may not only be inconvenient to the patient and her parents, but it can also pose a threat of growth and body weight disorders. In order to solve the problem in the said case it was helpful to combine two diagnostic methods: one of them based on traditional allergen extracts and the other – molecular, which involves using components for detecting specific IgE antibodies. Modern molecular diagnostics is an excellent supplement to extract-based diagnostics. However, it must be noted that its accessibility is still limited by high costs.

Congenital atrioventricular block (AVB) is one of the rare causes of bradycardia in infancy. In most cases its occurrence is a consequence of neonatal lupus being a result of transplacental transmission of maternal antibodies causing damage to heart conduction system. Clinical outcomes of AVB vary from asymptomatic bradycardia to intrauterine death. Symptomatic complete or 2nd grade advanced AVB is an indication for pacemaker implantation in children. Hereby, we present a clinical case of a neonate born at term with negative perinatal and family history, in whom complete AVB was diagnosed in the first day of life. No structural heart defect or contractility impairment was found. Mother’s serum was negative for anti-SSA and anti-SSB antibodies. Between 2nd and 11th day of life we observed gradual improvement in terms of atrioventricular conduction and spontaneous restoration of sinus rhythm in the 7th day after birth. To the best of our knowledge, it is the first reported case of transient congenital complete AV block without signs of underlying inflammatory process.