Vol 7, No 2 (2016)

Monogenic forms of inherited disorders of connective tissue and multifactorial connective tissue dysplasia are quite common in the population. Despite the high level of modern molecular techniques, clarification of their nosology of today, still remains a distant prospect. These difficulties are due to a large variety of mutations expressed their phenotypic polymorphism clinical manifestations, the considerable size of the genes encoding the proteins of the connective tissue, a rarity major mutations and low availability of molecular genetic research methods to verify the diagnosis. Clarification of the incidence of connective tissue displasia hindered by the lack of common terminology, standardized diagnostic criteria, as well as the practical inaccessibility of modern molecular genetic techniques to identify this heterogeneous pathology. The first part is devoted to the recommendations of the pediatric aspects of diagnosis of hereditary disorders of connective tissue with agreed international diagnostic criteria, and connective tissue displasia. Details covered principles of tactics and treatment of patients with this pathology. The attention of researchers aimed at studying the problems of the modifying effect of this disease on the nature of the flow of almost all diseases. This proves the feasibility of making additions to the standards of inspection and management of these patients with the mandatory inclusion of a comprehensive treatment of the underlying disease additional treatment and rehabilitation, correcting disorders caused by comorbidities.

Results of the prospective study conducted to assess the perinatal risk factors contribution in the asthma phenotypes formation in childhood are presented. Of 712 children, which have been observed from the first wheezing onset in St Petersburg’s state ambulances, 238 children with bronchial asthma developed in later years of life were included in random sample. Bronchial asthma proceeded in the structure of atopic disease in 128 children (phenotype ABA), and as the part of the limited allergic lesion of respiratory tract - in 110 children (phenotype RBA). It was found that bronchial asthma in mother, especially mother’s asthma with the early age onset, pregnancy pathology and maternal Smoking during pregnancy are the most significant risk factors which contribute in formation of ABA asthma phenotype. Maternal Smoking during pregnancy increased the frequency of severe asthma with ABA phenotype in the offspring during next years of their life. Clinically, the ABA phenotype is characterized by more frequent debut at the age of 1 year and usually diagnosed before 7 years of age, the presence of food sensitization in 70-90 % of cases, and a high level of hyperimmunoglobulinemia E. Such triggers as the Cesarean delivery, absence of the breastfeeding and exposure to tobacco products in the first years of life are the most significant risk factors in formation of the RBA asthma phenotype. The absence of allergic diseases in both parents or allergic ллерголог in mothers, later age debut and diagnosis of asthma, extremely low frequency of food sensibilization (less than 15 %), high frequency of hyperresponsivity, and low frequency of hyperimmunoglobulinemia E, exceeds the norm in 2 times are the typical features of RBA asthma phenotype.

Traditionally, Parkinson’s disease is associated with a deficit of dopaminergic system, manifested in the extrapyramidal motor disorders. In addition, the disease is characterized by a wide variety of not movement disorders. For example, the spectrum of autonomic, mental, cognitive and sensory symptoms is presented. Cognitive impairment, including mild cognitive impairment and dementia in Parkinson’s disease are among the most common disorders are not motor. The purpose of this study was aimed to investigate the relationship of early cognitive impairment and rate of glucose metabolism in different parts of the brain in patients with Parkinson’s disease. Positron emission tomography (PET) with fluorodeoxyglucose synthesis in patients suffering from Parkinson’s disease was performed. Study group consisted of patients (31 persons, age 41-77 years). Patients have passed inpatient and/or outpatient treatment at the clinic of the Institute of Human Brain of the Russian Academy of Sciences. The control group (15 persons) consisted of patients of similar age group without cognitive impairment. To estimate the rate of glucose metabolism was used an original technique of the Institute of Human Brain. Immediately prior to the intravenous administration of radiopharmaceutical [18F]-deoxyglucose was synthesized. Psychological testing consisted of a clinical interview, observation, survey, test, as described in a brief assessment of mental status (MMSE) and the battery frontal dysfunction (BFD). The study found that when the initial cognitive impairment observed pattern of changes in the rate of metabolism of glucose, characteristic of patients with severe cognitive impairment in Parkinson’s disease. This fact leads to the assumption of a high validity of the test battery frontal dysfunction for early diagnosis of cognitive impairment in Parkinson’s disease.

Contraception is the important component of family planning. It plays the important role in fighting with abortion and preserving the reproductive health of women. The specially designed anonymous survey was performed in 375 women living in the Republic of Kalmykia in the age from 16 till 45 years old. The average age of beginning of sexual life was estimated as 18,6 ± 0,1 years at the examined group. The average age decreased from 19,3 ± 0,3 to 17,0 ± 0,2 during the last 10 years. Almost the half of respondent (45,9 %) started the sexual life before the marriage. Kalmyk women started the sexual life later than Russian and entered the premarital relationship rarely. 70,2 % of sexually active women protected from pregnancy: 74,2 % used barrier methods of contraception, 13,5 % - intrauterine device, 12,9 % - oral hormone contraception, 11,1% - rejected sexual intercourse. Women below 30 and Kalmyk women used the barrier methods of contraception most often. Women older than 30 years used intrauterine device most often, oral hormone contraception was in use among cities inhabitants and among Russian women. The self-appraisal of knowledge on contraception questions showed that women estimate their erudition as 3,98 ± 0,04 on average. One quarter (23,2 %) of women consider themselves insufficiently or poorly informed dealing with this question. Women in the age below 20 and inhabitants of countryside are less informed. The information was received from the formal source by 32,5 % of women (at school - 27,7 %, from healthcare workers - 4,8 %). The majority of women (50,8 %) received the information from the informal source: 17,9 % - mother and other relatives, 12,8 % - mass media, 4,3 % - printed matter. The role of school in the informing young people dealing with this question decreased during the last few years. The role of healthcare workers in the informing young people is very low.

Timely diagnosis of infection in cystic fibrosis patients is a major aim. This is especially important for timely treatment in primary seed Ps. aeruginosa and Burkholderia cepacia. Early treatment allows in most cases to prevent the formation of chronic Pseudomonas aeruginosa infection. This also applies to re-sowing Ps. aeruginosa after the previous eradication. However, not all cities and small towns have laboratories equipped sufficiently to do bacteriological analysis of cystic fibrosis patients sputum, especially for the allocation of Ps. aeruginosa and Burkholderia cepacia. In this regard, the choice of methods of collecting material and its storage and transportation to specialized laboratories is very relevant. In 5 cities of the North-West region of Russia in 51 patients with cystic fibrosis conducted fences sputum and its subsequent delivery and carrying out of sowing in NIIDA FMBA of Russia in St Petersburg. Five patients extract sputum by coughing, 12 - induced sputum, 24 - were held flush with the posterior wall of the pharynx, 8 - swab from posterior pharyngeal wall, the parents of 2 patients brought the sputum coughed in previous day at house. As the result of bacteriologic test in 15 children certain pathogens were detected for the first time: Staphylococcus in 10 patients, Pseudomonas aeruginosa in 4 patients, Achromobacter in 1 person. Pathogens are well preserved during transportation of specimens to the laboratory in transport medium in the cold, which allows the use of bacteriological laboratories of large cities for carrying out sputum cultures of patients from other regions.

The literature review provides current information on risk factors, clinical features, advanced diagnostic capabilities, prognosis diffuse disorders of growth and development of lung like interstitial lung disease specific to early childhood. Diffuse disorders of growth and development in children assigned to interstitial disease, due to the fact that along with anatomical defects of the lung, there is a significant increase in the interstitial tissue. Diffuse lung development disorders - acinar dysplasia, congenital alveolar dysplasia, and alveolar capillary dysplasia with misalignment of pulmonary veins is a rare condition, clinically manifested in the first hours of life, severe RDS infants, have a poor prognosis. Early diagnosis is essential for determining the management plan and prognosis of the disease. Diffuse lung disorders of growth occur in different states: bronchopulmonary dysplasia, pulmonary pathology in the neonatal period as in full-term baby so, chromosomal anomalies (trisomy 21 chromosome) and congenital heart diseases at chromosomal anomalies, and without them, congenital defects of other organs. Growth disorders formed as prenatally and postnatally and reflective of abnormalities of alveolarization. Pathology and radiology interpretation often noted the presence of emphysematous changes in these cases. The severity of the clinical course, complications, prognosis can vary in different forms. Lung growth disorders are risk factors for recurrent respiratory diseases and contribute to their chronic course.

Syndrome of palpable abdominal tumor in children is a difficult diagnostic problem. The difficulties associate with many disease entities that underlie this syndrome, often erased clinical picture and late referral to a doctor. In this article we will try to clarify the problems of diagnosis and treatment of exactly oncological diseases, as a cause of the syndrome palpable abdominal tumor. The vast majority of patients with complaints palpable education seek medical care to pediatricians or general practitioners. Prolongation of the diagnosis is often and directly associate with two factors: low oncological alertness by pediatricians (rarely by Pediatric Surgeons) and the lack of attention of parents to the initial manifestations of tumor in children. We have tried to describe the most characteristic symptoms inherent in the majority of tumors localized in the abdomen, the pelvis and the retroperitoneal space. Also there is information about on laboratory and instrumental methods of research used in the diagnosis of tumors, side by side the “routine” methods such as the complete blood count, abdominal ultrasound, in some cases, determination of specific tumor markers. There are the results of the comparative analysis and distinctive features of benign and malignant tumors of this localization are highlighted. Also the basic principles of the treatment of solid tumors in children are presented in this article. The article is focused primarily on all pediatricians, pediatric surgeons and general practitioners.

The article presents the results obtained when testing the hypothesis that the relatives of seriously ill children often feel guilty believing themselves to be responsible for the child’s illness. At the same time, relatives of children with cancer often mystify causes of the disease and relatives of children with other chronic diseases, when assessing causes of the illness, give greater importance to the influence of external impacts, injuries. During the study, a questionnaire was designed to find out basic cognitive mindsets of relatives about the causes of children’s diseases, and using the method of principal components we determined four factors that we have interpreted as the following generalized attitudes toward the causes of disease: “Damage to the body caused by objective factors on the background of their own guilt”, “Fate. Fatalism. Predestination”, “Disease as an accident (trauma)”, and “Illness as an influence of evil forces. Mystic”. As a result of the study, we concluded that the majority of parents of seriously ill children tend to quite realistically consider the child’s disease and claim mainly the environmental negative impact for the cause of the disease, but at the same time they feel to share an essential part of blame for the disease, whatever the nature of illness is. The following differences between parents of children with different diseases were determined: the relatives of children with cancer are less likely to consider a disease as an accident (trauma). Relatives of children in both groups are in the same degree exposed to mystical ideas about the causes of disease.

The article is devoted to the experience of social services in South Karelia (region of Finland) in respect of different types of urban support for disabled people in the areas of employment, housing and hobbies. The article describes the work of institutions providing assistance to people with disabilities and the services which are being provided by social service Eksote in Lappeenranta, Imatra and Parikkale. The article describes the work of centers round the clock monitoring and employment for the day, as well as the daily lives of people with Down syndrome, severe autism, intellectual disabilities. The attention is focused on the best practices in Finland, enabling the disabled child to engage in open employment. The article informs about the kinds of financial support for disabled people in Finland and assistance from the National Insurance Institute Kela, including the payment of rental housing. This article describes the features and differences of the centers around the clock care for people with disabilities in South Karelia: Houses “Petyayamyaki” and Private accommodation center “Villa of Karelia “for people requiring intensive care. The article describes the features of the day centers of employment for people with disabilities in Finland: the Center for Independent Living Support “Arttu” and Center “Valtsy.” According to the official position of the Government of Finland, persons with disabilities have the same rights as all other citizens of the country, and they have possibility to make decisions about their own lives. The Finnish system of medical and social rehabilitation of people with disabilities deserves the attention and replication in Russia.

Cytomegalovirus (CMV) belongs to the most frequent causes of intrauterine infection and can cause birth defects and severe manifestations of the disease fatal. In most cases the infection is latent, but there is a high risk of developing late manifestations. For the prevention of vertical transmission of CMV infection are needed early prenatal diagnosis of infection in a pregnant woman with the definition of the extent of its activity and conduct of antiviral therapy. When intravenous anti-CMV immunoglobulin observed rapid clinical efficacy. However, the titer of circulating antibodies in the child’s body is rapidly reduced, determines the duration of the protective effect of the drug to 4-5 weeks. Since the suppository form of interferon-α with taurine has been used successfully in obstetric practice, we have examined its effectiveness in the treatment of 11 outpatient children aged 1 month to 3 years with congenital CMV infection, 3 of them received specific immunoglobulin baby immediately after birth. The drug was administered rectally by prolonged scheme for 3 months 2 times a day every 12 hours within 10 days, followed by 1 suppository 2 times a day every other day (3 times a week). The therapy in all children experienced rapid resolution of symptoms CMV: normalization of the size of lymph nodes, liver and spleen, blood count, serum ALT, urinalysis, as well as the disappearance of CMV DNA in blood and IgM antibodies to CMV infection after treatment. During 12 months of follow-up episodes of reactivation of CMV infection in any of the observed child is not mentioned.

Neuroendocrine cell hyperplasia of infancy (NEHI) is a disease of the unknown etiology which is one of the rare, insufficiently explored interstitial lung diseases. It might be encountered among children up to two years old and it is characterized by persistent tachypnea, crackles, hypoxemia without being oxygen-dependent and hyperplasia of bombesin-positive neuroendocrin cells of peripheral respiratory tracts in lung biopsy. The lung CT shows that there are mosaic attenuation air trapping involving more than four lung segments and ground glass opacity mostly marked in the middle lobe of the right lung and lingular segments of the left lung. А precise diagnosis establishment based on a combination of clinical signs and HRCT data is possible without implementation of invasive research methods, lung biopsy in particular. At present there is no specific treatment for this disease; infants diagnosed with NEHI require special monitoring since it is not known whether this disease has a connection with idiopathic diffusive hyperplasia of PNE-cells of adults (IDYPNC) and how this pathology might affect lung development and their function in adults. The most part of patients with NEHI have satisfactory clinical results and there have been no fatal cases. Despite such positive data on this understudied disease, infants with NEHI require special monitoring and comprehensive research since long-term effects of this disease in an older age are still undiscovered. In this article case of NEHI in 1,5 years old child with a complaint for tachypnea and cough is submitted.