The paper gives the results of current studies in the genetics of epilepsy; data on neuromodulation as one of the promising methods for correcting neurological abnormalities; the results of new therapeutic approaches using energy therapy in the correction of manifestations of early infantile autism, impaired cognitive function and behavior problems in children.

The paper deals with interstitial lung diseases in children. It gives an update and the results of the authors’ observations of different forms of interstitial lung diseases. Particular emphasis is placed on hypersensitive pneumonitis as the most common nosological entity among childhood interstitial lung diseases. The authors followed up 186 children with hypersensitive pneumonitis. They present the most important clinical, functional, radiological, and immunological diagnostic signs of this disease and consider its prognosis. In addition, there is evidence for other rare forms of interstitial lung diseases (idiopathic interstitial pneumonia, idiopathic pulmonary hemosiderosis, etc.) in children. 

Recent clinical and experimental studies data are considering relating to the genetic causes of pulmonary arterial hypertension (PAH). The genetic abnormalities were first identified in association with the idiopathic and familial form of PAH, and some cases of secondary PAH following congenital heart defects (CHD). Genetic polymorphism of BMPR2, SMADs, ALK1/ENG were described as a reason of TGF-β-cell signaling disturbances. These genetic abnormalities were found in 6—18,2% of the patients with PAH owing to CHD. There are 70-80% heterozygote carriers of BMPR2-gene mutation among the relatives of familial PAH patients. The effects of the abnormal BMPR2 signaling pathway develop with the participation of ALK-receptors and transcriptional SMAD-proteins. Then BMPR2 и BMPR1B dysfunction culminate in an expressed smooth cells proliferative response that occludes the pulmonary arterial lumen and increases the apoptosis of the endoteliocytes in the small pulmonary arteries. 

The literature review gives data on the role of mitochondrial disorders in the pathogenesis of different progressive muscular dystrophies. It describes changes in Duchenne, limb-girdle, facial scapulohumeral (Landuzi—Degerina) muscular dystrophies. The review is based on both clinical and experimental animal studies. Along with the implication of mitochondria in the pathogenesis of the diseases, it describes muscular dystrophy treatment options compensating for energy disorders and overcoming oxidative stress and mitochondrial dysfunction. Mitochondrial studies in different muscle diseases hand physicians treatment modalities that fail to lead to recovery, but compensate for disorders caused by mutations in the genetic apparatus. 

According to different authors, the rates of food allergy range from 4 to 7,5% in a pediatric population. The paper presents the current aspects of the prevention and prediction of food allergy in infants in the antenatal and postnatal period. Identification of babies at increased risk of allergic reactions allows appropriate prevention before birth. The efficiency of primary prevention increases when the specific features of the immune status and immune reactions in the neonatal period are considered in babies with a family history of allergy. The postnatal risk factors of allergy include maternal non-compliance with hypoallergenic and elimination diets during lactation; smoking; late attachment to the breast; formula feeding, early use of age-inappropriate complementary foods; frequent viral and parasitic infections, and chronic infection foci. The basic principles in the antenatal prevention of food allergies are laid down, which include a balanced diet in a healthy pregnant woman; a hypoallergenic diet in a pregnant woman with allergic disorders; improvement of the environment; and creation of hypoallergenic living conditions. Postnatal prophylaxis is to limit excessive neonatal drug therapy and early bottle-feeding, and to prevent viral infections. 

Based on the analysis of its 15-year activities, the Center for Development Correction in Premature Infants has developed and laid down principles in the organization of a follow-up, treatment, and habilitation of premature infants in the postnatal period. The authors discuss a physician’s required qualification and professional skills and needs for specialists and laboratory studies. They present a scheme for following up a premature baby during 3 years of life and methods for evaluating the psychomotor development and health of a premature baby with consideration with his/her adjusted age. 

The article presents the data of a comparative analysis of the results of studying the auditory function of neonatal infants born from multiple or singleton pregnancies. It assesses the outcomes of evoked otoacoustic emission test according to gestational ages, averaged response amplitudes at four fundamental frequencies, and response powers in the babies born from multiple or singleton pregnancy. Multiple pregnancy was not found to affect the auditory function of premature infants; however, auditory analyzer maturation may be delayed in full-term twin infants versus babies born from singleton pregnancy. 

Objective: to determine the efficacy of microbiological monitoring in the prevention of neonatal infectious and inflammatory diseases at a specific hospital. The authors retrospectively analyzed the 2007 and 2011 results of microbiological examination (feces and throat swabs are nonsterile specimens) and the nosological and etiological patterns of infectious and inflammatory diseases in 952 newborn infants. Changing an antibiotic policy at the department was found to affect the composition of microbial communities inhabiting the gastrointestinal mucosa of neonatal infants. The change in the composition of microbial colonization of the mucous membranes was shown to reflect alterations in the etiological and nosological patterns of neonatal infectious and inflammatory diseases. Conclusion. Microbiological monitoring may yield an adequate microbial landscape of the department when regularly examining the nonsterile sites that are the most accessible to examinations and make up the most numerous microbiotas (feces and throat swabs). Monitoring the dynamics of the colonization of nonsterile sites can identify the forerunners of possible mass clinical cases of infections and prevent them. 

Two hundred and twenty-four mother-neonate pairs were examined; of them 39 infants were diagnosed as having perinatal Epstein– Barr virus infection. Later on, two groups of infants (39 and 98 with and without this infection, respectively) were followed up during the first year of life. Epstein–Barr virus infection was shown to be widespread among fertile-age women and perinatal infection of this etiology. The risk of the perinatal infection is high in the active forms of Epstein–Barr virus infection in women who have complicated pregnancy, in those who are aged over 30 years in particular, in whose who suffer from chronic tonsillitis, who are urban dwellers and have bad habits (smoking). The signs of neonatal perinatal infections are nonspecific manifestations of TORCH syndrome. Acute respiratory viral infections show a complicated course in most cases of infants with perinatal Epstein–Barr virus infection during the first year of life. 

The authors give the data available in the literature and their clinical observation of a child with Johanson—Blizzard syndrome, a rare genetic disorder. Particular emphasis is laid on the clinical manifestations of the disease, characterized by multiple malformations, such as congenital exocrine insufficiency and abnormalities of the maxillofacial region and the organs of hearing and vision. A molecular genetic study detected previously undescribed UBR1 gene mutation. The paper describes the differential diagnosis of this syndrome and multicomponent therapy involving clinical nutrition and enzyme therapy during life. A seven-year follow-up revealed positive changes in the child’s general condition. 

The paper gives the results of a clinical observation of 5 patients with genetically verified X-linked Emery—Dreifuss myopathy. Having no cardiovascular complaints, all the patients were found to have cardiac rhythm and conduction disturbances, such as atrial flutter (n=3), unstable supraventricular tachycardia (n=3), Lown grade III or higher premature contraction (n=3), and atrioventricular block (n=4), as evidenced by cardiological examination. Right atrial dilation was a pathognomonic and earliest sign of myocardial damage. The paper discusses the examination, management, and treatment of the patients. Indications for implantation of a pacemaker (implanted in 2 patients) and the advantages of monofocal models in this nosology are substantiated. 

The diagnosis and therapy of pulmonary hypertension in children are now one of the current acute health problems in the Russian Federation. The purpose of the study was to describe the clinical picture, diagnosis, and treatment of the disease and to attempt to perform specific therapy for rapidly progressive idiopathic pulmonary hypertension and chronic heart failure. Unfortunately, there is now no panacea for treating children with this abnormality. However, current medicamental approaches using specific therapy drugs (endothelin receptor antagonists, phosphodiesterase type 5 inhibitors, prostaglandins) and their combinations offer prospects for the effective treatment of patients and improve prognosis. 

In recent years, cytokines have played the most important role in the regulation of immunopathological mechanisms, allergic reactions in particular. The objective of the study was to determine the presence, frequency, and levels of cytokines in children with atopic dermatitis. Ninety patients with atopic dermatitis (a study group) and 11 children without signs of this condition (a comparison group) were examined. The levels of the interleukins IL-4, IL-5, IL-13, IL-17, IL-17F, IL-22, and TGF-β1 and the chemokines eotaxin and eotaxin-2 were determined in a single serum specimen by enzyme immunoassay. The cytokine status of children with atopic dermatitis was not established to fundamentally differ from that of the comparison group. However, the frequency and mean concentrations of interleukins and chemokines were different. The specific feature of a cytokine profile in children with atopic dermatitis lies in a marked imbalance in the levels of all the studied cytokines. The significant elevation of IL-4, IL-5, TGF-β1 , and IL-22 levels in children with atopic dermatitis suggest that consideration of the pathogenesis of this disease only in terms of the predominance of TH2 lymphocyte activation is more than sketchy. 

The Moscow Research Institute of Pediatrics and Pediatric Surgery is taking part in the international MecMilk study. Its purpose is to reveal and estimate possible differences between those who have consented to participate in the MecMilk study and those who have refused. A Moscow cohort of 393 infants, the mothers of 200 babies of them agreed to take part in the MecMilk study, was recruited in 2011. Familial allergy history data in these neonatal infants were collected. A year later, 363 (92,4%) mothers were interviewed using the United Kingdom Working Party criteria for atopic dermatitis. The incidence of allergic manifestations was two-fold higher in the families who had agreed to participate in the MecMilk study. The manifestations of atopical dermatitis were recorded in 8 of the 200 babies aged one year whose mothers had consented to participate in the study while 193 infants whose mothers had refused presented with no symptoms of atopic dermatitis (р=0,0074). Thus, those who had agreed to participate in the MecMilk study differed from those who had refused in the incidence of allergic manifestations among the babies and their relatives. The probability of biased sampling in relation to the population should be taken in consideration when planning a study and interpreting its results. Otherwise it will be not difficult, but also incorrect to compare obtained results. 

Difficulties in choosing anti-scarring tactics are one of the topical problems in the management of children with sequels of burn injury. Therapeutic effectiveness can be enhanced, by making a more accurate diagnosis of the type of scar tissue, which allows the determination of an optimal combination of tools and methods for convalescent burn treatment. Despite that there are recent research works dedicated to the practice of unbiased methods, clinical examination is so far the most widespread method for scar assessment, which shows a high percent of medical errors in view of its subjectivity. The authors of this article propose an algorithm of scar type identification via binary regression and expert approach. The data of 109 clinical examinations of scars in 75 children admitted to the G.N. Speransky Children’s Clinical Hospital with burn scar were reviewed. The developed algorithms showed a high efficiency in identifying the type of a scar and were implemented in software that could define the probability of classifying the scar as one of the clinical and morphological types after entering the clinical exam data and scar age. The program is designed for both combustiology professionals and general practitioners. 

The outcomes of treatment for neonatal perforative peritonitis during 20 years (1992 to 2011) were studied. A total of 31 newborn infants with peritonitis were treated at the surgery department (neonates with complications of intestinal malformations were excluded). The newborn infants with Stage III necrotizing enterocolitis (n=13) and spontaneous gastric perforations (n=13) constituted 84%. Since 2002 we have been applying peritoneal drainage in the package of measures for preoperative patient preparation to decompress the abdominal cavity, which could lengthen the preparation time from 1,5—2 to 8—12 hours. In this case, there was a possibility of more adequately correcting fluid and electrolyte metabolic disorders, restoring urine output, relieving the signs of infectious and toxic shock, and preventing the complications of general peritonitis, such as multiple organ dysfunction and disseminated intravascular coagulation. Over the study period, the mortality among the newborn infants with perforative peritonitis decreased from 75 to 21%. 

The paper describes a case of inflammatory bowel disease in a patient aged 2 years 7 months. The differential diagnosis between ulcerative colitis and Crohn’s disease is discussed on the basis of clinical, instrumental, and histological findings.

The paper considers the impact of complementary feeding on the psychomotor development of a baby. It describes possible psychomotor developmental disorders due to inadequate feeding of an infant during the first year of life.