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Vol 7, No 4 (2016)

Multiorgan violations in connective tissue dysplasia in children. diagnostic and management standards. Russian draft recommendations
Abbakumova L.N., Arsentev V.G., Kadurina T.I., Kopceva A.V., Krasnova E.E., Mambetova A.M., Nesterenko Z.V., Chuhlovina M.L.
In October 2014 in Moscow at the XIII Russian Congress “Innovative Technologies in Pediatrics and Pediatric Surgery” was adopted the first part of the Russian recommendations “Congenital and multifactorial hereditary connective tissue disorders in children. Diagnostic algorithms. Tactics of treatment”. Multifactorial connective tissue dysplasia have a high prevalence in the population. We present the second part of the draft Guidelines dealing with multiple organ disorders in the connective tissue dysplasia. Despite the high level of modern molecular techniques, clarification of their nosology remains a distant prospect. Figuring out the incidence of connective tissue dysplasia hindered by the lack of common terminology, standardized diagnostic criteria, as well as the practical inaccessibility of modern molecular genetic techniques to identify the disease. In the first part of the Guidelines we could not find a place for all aspects of this complex issue, which bears an interdisciplinary approach. Later it was planned to develop recommendations for doctors of various specialties. During writing the second part it was taken into account the specialists and research teams from St Petersburg, Moscow, Tver, Omsk, Novosibirsk, Ivanovo, Chelyabinsk, Izhevsk, Orenburg, Smolensk, Petrozavodsk, Nalchik, Barnaul, Saratov, Rostov-on-Don, Voronezh, Stavropol, Yaroslavl. The core of the group works in active collaboration since 2008. The draft of the second part of the recommendation characterized especially multifactorial connective tissue dysplasia in infants, multiple organ disorders of the cardiovascular, respiratory, urinary system, gastrointestinal tract, hemostasis, nervous, musculoskeletal, upper respiratory tract and maxillodental apparatus. It sets out the course and tactics of various diseases with concurrent connective tissue dysplasia.
Pediatrician (St. Petersburg). 2016;7(4):5-36
Comparative Analysis of Effectiveness of Lung Sonography and Chest Radiography for Diagnosis of Lung Diseases in Infants
Akinshin I.I., Sinelnikova E.V., Mohammad A.A., Rotar A.Y., Stolova E.N., Solodkova I.V., Chasnyk V.G.
The study included 39 children with pulmonary diseases (respiratory distress syndrome, bronchopulmonary dysplasia, and neonatal pneumonia) of both sexes, aged 1-111 days (experimental group) and 84 children aged 1-166 days with diseases not associated with heart and lung lesions (control group). Group of children with lung disorders included respiratory distress syndrome, bronchopulmonary dysplasia and congenital pneumonia. Children with respiratory distress syndrome and congenital pneumonia were examined in the first days after birth. Children in this group were underweight at birth (from 680 g, the majority with a weight of up to 1600 g), their state at the time of the first survey was qualified as severe. About a quarter of children with lung disorders and had a congenital heart disease. The most informative dates for the description of a condition of newborn’s lungs is were the strengthening of pulmonary drawing on the roentgenogram at the expense of an interstitial component, decrease of pneumatization of lung tissue and the size of total area of airless subpleural lung tissue at ultrasound investigation. Lung ultrasound provides accurate information about the amount density of B-lines and areas of consolidation in the lungs and is comparable with the radiological diagnostic characteristics which become the basis for more complicated differential diagnostics of the pulmonary disorders. This will allow physicians to specify certain indications for an ultrasonic exam of the lungs, optimize diagnostic means, and more clearly formulate conclusive rules in the differential diagnostic process.
Pediatrician (St. Petersburg). 2016;7(4):37-44
Autosomal-recessive polycystic kidney disease in children
Andreeva E.F., Savenkova N.D., Tilouche M.A., Natochina N.Y., Dug I.V.

The aim of the study was to assess the features of development of renal and extrarenal cysts, arterial hypertension, syndrome of portal hypertension in autosomal recessive polycystic kidney disease (ARPKD) in children. Patients and me­thods. With the aim of establishing the type of inheritance of polycystic kidney disease the genealogical analysis of 12 families, clinical ultrasound of the kidneys and abdominal organs, computed tomography. The study included 14 children with ARPKD. Conducted follow-up study of 14 children with ARPKD to determine the age by the detection of cysts based on ultrasound, the features of the initial clinical manifestations and course, complications and outcome.

Results: the Age of the children back to the time of detection of the cysts in the kidneys based on ultrasound when ARPKD was 2.3 ± 0.4 month. Identified a high incidence of arterial hypertension in neonates and infants with ARPKD at 92.9%. Extrarenal location of the cysts is set at 71.4%. Syndrome of portal hypertension, bleeding from varicose veins of esophagus and stomach, melanau installed in 5 (35,7%) children. Of the 14 in 5 (35,7%) patients diagnosed ARPKD children with liver fibrosis, which has a favorable prognosis without the formation of renal failure in infants and early childhood, 9 (64,3%) diagnosed with classic ARPKD in neonates and infants that is characterized by progression to end-stage renal disease in the first year of life.

Pediatrician (St. Petersburg). 2016;7(4):45-49
Features gastroduodenal pathology in military age patients with malnutrition
Vyutrikh E.V., Antipova M.V., Bodareva N.V., Gergel A.O.

Background.Digestive diseases are a leading cause of body weight deficit and has a leading position among general morbidity in young patients.

Purpose.To analyze the pathology of the upper digestive tract in young men with a low body weight.Material and methods.193 young men aged 16-27 y.o. (mean age 20,3±2,2 years) with a mean body mass index (BMI) 17,8±2,4 kg/m2were examined. Erosive lesions of the stomach were found in 18,8% (n=36) and erosive lesions of the duodenum – in 16,1% (n=31). Ucer of duodenum were found in 11,4% (n=22) and none of stomach. Duodenal reflux were found in (51,8%;n=100) and every fourth was combined with erosive gastritis. Histological examination of stomach revealed an inflammation in all cases. Atrophic changes in the antral stomach were detected in 11% (n=6) of the cases. All cases of atrophy accompanied by HP colonization. In the group with normal BMI the prevalence of cardia failure, erosive lesions of the esophagus, stomach and duodenum were founded. In the same group there were prevalence of stomach inflammation by histology (44%). The patients with low BMI (hypotrophy 1 degree) have less erosion and inflammation compare to patients with normal BMI and hypotrophy 2-3 degrees.

Conclusions.1. Stomach inflammation were revealed in the majority of young men with low BMI. Atrophic changes of gastric antrum associated with HP infection were found in 10% of cases. 2. Erosive lesions of the esophagus, stomach and duodenal are associated with the BMI. This finding allows use the BMI as an integral indicator of the severity of the inflammation of stomach and duodenum. Erosive lesions of the upper digestive tract are found predominantly in patients with normal BMI.

Pediatrician (St. Petersburg). 2016;7(4):50-56
Noncarrying Оf Pregnancy In Women Оf Different Body Types
Gaydukov S.N., Tomaeva K.G., Komissarova E.N.
Noncarrying of pregnancy is one of the most urgent obstetrical problems, because it entails not only a decrease in the birth rate, but also has a negative impact on women’s reproductive health. Given the fact that the incidence of miscarriage remains high, the purpose of our research was to study of miscarriage in women with different body types at the present stage. Was examined 119 pregnant women, of which 34 (28,6%) had macrosomatic type, 52 (43,7%) of patients - mesosomatotype, and 33 (27,7%) had microsomatotype. 59,7% were nulliparous women and 40,3% were multiparous. It was noted that the threat of abortion at different gestational ages was more often diagnosed in women microsomatic body type. Premature delivery is also more frequent in the women with microsomatic body type.
Pediatrician (St. Petersburg). 2016;7(4):57-60
IgE-hypersensitivity to allergens of the fungi Rhizopus Nigricans and Cladosporium Herbarum in childrenwith respiratory allergies
Gurina O.P., Dementeva E.A., Blinov A.E., Varlamova O.N., Timokhina V.I.
A survey of 111 children diagnosed with respiratory allergies (allergic rhinitis, allergic bronchitis, obstructive bronchitis, recurrent bronchitis, bronchial asthma) aged 1 year to 17 years, of which 58 children have a diagnosis of atopic bronchial asthma of different severity. All children are at risk for the development of fungal sensitization, having a household contact with these allergens. Allergological diagnostics was performed by ELISA using a panel of pediatric and fungal (Rhizopus nigricans and Cladosporium herbarum) biotinylated allergens. As a result of the study revealed that allergens mold Rhizopus nigricans and Cladosporium herbarum are the causal significant factor in the development of respiratory allergies, including asthma, in children at risk. Most often a high level of hypersensivity to Rhizopus nigricans is seen in children aged 2-5 years, Cladosporium herbarum - aged 6-9 years, concomitant to both fungal allergens at the age of 10-17 years. The correlation between the severity of atopic process and degree of sensitization to fungal allergens was not detected. All children with atopic asthma have polyvalent sensitization. Allergens mold Rhizopus nigricans and Cladosporium herbarum must be taken into account in the preparation of a diagnostic panel for children with respiratory allergies at risk. It is necessary to support drug therapy of respiratory allergy in children the activities aimed at elimination of cause significant fungal sensitization everyday surroundings.
Pediatrician (St. Petersburg). 2016;7(4):61-66
Clinical characteristics of newborn with different birth weight (results of a multicenter cohort study)
Deev I.A., Kulikova K.V., Kobyakova O.S., Kulikov E.S., Holopov A.V., Stepanov I.A., Antonova I.N., Bybchenko E.G., Holtzman K.E., Dorovskaja E.N., Kozhevnikova E.N., Ledyakina L.V., Makarova N.A., Permyakova M.A., Popova N.G., Stradina A.A., Fedorova L.A., Fomenko A.A., Kharitonova E.S., Khodosevich E.B., Chugainova I.N.
This article is dedicated to analysis of clinical characteristics of children with different birth weight included in the multicenter cohort study of newborns. The study analyzed data 572 children who were stratified according to birth weight (normal, low, very low and extremely low body weight). As part of the protocol incorporating the patient’s visit was provided at the time of birth (visit 0), a retrospective collection of anamnestic data about the mother (Visit -1) and visit prospective study of children aged 12 months (Visit 1). As a result of the analysis, it was found that the increase in frequency of operative delivery, and reduction of Apgar score and the presence of the studied pathological conditions, to the greatest extent, common in children who had birth weight of less than 1500 in this case. The probability of a combination of 3 or more conditions (described in this paper), in the case of a child with an extremely low birth weight was higher in the 44-fold (OR = 44.52; CI95% 15,5-127,5), while when the newborn had very low birth weight - a chance of development was significantly higher only in the 7-fold (OR = 7.12; CI95% 2,4-20,9) compared with children who had a low birth weight. In this regard, there is a need not only to the use of modern technologies nursing of low birth weight infants, but also provide preventive care in a group of women with a high degree of perinatal risk and risk of preterm delivery, allowing prolong pregnancy up to 32 weeks and/or weight of the fruit body of more than 1000 g, which can improve the survival rates of patients and the prevention of premature severe disabling conditions in the future.
Pediatrician (St. Petersburg). 2016;7(4):67-76
Vegetative disfunction and adaptive reserve potential in children born with fetus growth delay in the first 6 months of life
Ivanov D.O., Kozlova L.V., Derevtsov V.V.
In the course of the research we assessed the status of the autonomic nervous system and adaptation in infants with intrauterine growth restriction (IUGR) during the first six months of life. We observed infants born after abnormal pregnancies with IUGR (Group I), infants born after abnormal pregnancies without IUGR (Group II) and virtually healthy infants (without pregnancy and labour complications) in Group III. Despite the complicated medical history, at birth Group I infants displayed the level of sympathetic nervous system activity comparable to the one in Group III infants and lower than the level in Group II infants. However, in Group I infants sympathetic nervous system activity was restricted and compensatory reserves were depleted, sympathicotonia was prevalent. Decrease in frequency of asympathicotonic responsiveness of the autonomic nervous system (from 36.11% to 16.67%) and increase in sufficient adaptation (from 27.78% to 33.33%) in Group I infants by the end of neonatal period of life are related to the treatment of the pregnant women, as we suppose. Despite the fact that by the age of three months the level of sympathetic nervous system activity in Group I infants was lower than that in Group II infants, Group I infants showed less intensive decrease in sympathetic activity level followed by more strain on compensatory reserves. By the age of six months the sympathetic nervous system activity had continued decreasing and was no longer significantly different in Group I and Group II infants. At the same time, Group I infants displayed more frequent hypersympathicotonias combined with asympathicotonic responsiveness of the autonomic nervous system (in 16.36%). The results of the research show that IUGR in infants is connected to high rate of hypersympathicotonia with asympathicotonic responsiveness of the autonomic nervous system, which results in higher frequency and intensity of clinical implications of autonomic nervous system dysfunction.
Pediatrician (St. Petersburg). 2016;7(4):77-89
Structural and functional state of arteries in women with metabolic syndrome associated with autoimmune thyroiditis
Kanavets N.S., Levina L.I., Vasilenko V.S., Karpovskaya E.B., Ribka T.G., Ivanov S.N.

The aim of the research was to study structural and functional state of arteries in women with metabolic syndrome (MS) associated to autoimmune thyroiditis (AIT), to improve the efficiency of therapeutic and preventive measures. The study sample included 108 women, 40 of them were with metabolic syndrome, autoimmune thyroiditis and euthyroidism (group I), the second group consisted of 31 women with metabolic syndrome, autoimmune thyroiditis and subclinical hypothyroidism (group II) and control group included 37 women with metabolic syndrome without thyroid disease. Laboratory examination included the study of lipid profile ( cholesterol, low-density lipoproteins, LDL Very Low Density Lipoprotein, VLDL, high-density lipoproteins, HDL, triglycerides, atherogenic index), thyroid hormone levels (ATPO and ATG, fТ4, T3) and thyroid stimulating hormone (TSH). Also, patients were instrumental examination with ultrasound of the brachial artery to assess endothelium dependent and endothelium independent relaxation, the definition of complex intima-media thickness. In addition, it performed ultrasound of the kidneys with renal artery duplex scanning with the assessment of renovascular hemodynamics. All patients of the research showed elevated arterial stiffness endothelial dysfunction and remodeling of the vascular wall. These changes are most pronounced in women with metabolic syndrome associated with autoimmune thyroiditis and subclinical hypothyroidism.

Pediatrician (St. Petersburg). 2016;7(4):90-95
Manifestation of cardiomyopathy in patients with Marfan syndrome and marfanoid habitus
Luneva E.B., Malev E.G., Korshunova A.L., Reeva S.V., Timofeev E.V., Zemtsovsky E.V.

Marfan syndrome is a common genetically determined pathology of connective tissue. It was showed a reduction in systolic and diastolic left ventricular function in patients with Marfan syndrome, as well as the increase in left ventricle size, regardless of previous surgical intervention. Now in literature use the term “cardiomyopathy in Marfan syndrome,” denoting changes of the left ventricular function, in the absence of hemodynamic reasons for its deterioration. In this paper we evaluated the morphological and functional characteristics of the left ventricle, not only in patients with Marfan syndrome, but also in patients with marfanoid habitus.

Materials and methods. The study included 98 people, 8 of them – patients with Marfan syndrome, 24 examinees with marfanoid habitus and 66 healthy examinees – control group. To all patients entered into the study, echocardiography was performed. Additionally global and local deformation of the myocardium using techniques speckle tracking was assessed.Resultssignificant difference circumferental deformation parameters of the anterior and lateral walls of the left ventricle and its statistically significant reduction in the group with marfanoid habitus was obtained.

Conclusionsimpaired regional contractility may be the first sign of cardiomyopathy in patients with Marfan syndrome and in such a dysplastic phenotype as marfanoid habitus that is likely associated with hereditary disorders of the structure and function of connective tissue in various states of dysplastic phenotipes.

Pediatrician (St. Petersburg). 2016;7(4):96-101
Factors Affect on development and clinical course of ischemic stroke in children
Minin A.V., Palchik A.B., Plotnikova S.D.
Child strokes cause persistent neurologic impairment affecting on quality of life. Prophylaxis cerebral infarction in children promoted by Identification of factors influencing on development of ischemic stroke. 47 children with arterial ischemic stroke confirmed by MRI or CT was enrolled in cohort study. All children has focal neurological symptomatic which was assessed by pedNIHSS, PSOM, British muscular strength scale. General cerebral symptoms precede focal neurologic impairments in 67% cases. Fact of head trauma was documented in 55% observed children. Seizures occurs in 24% cases in acute period ischemic stroke. As major part of children had lacunar infarction in middle cerebral artery origin, so motor dysfunctions was admitted in clinical curse of general cases. By neuroimaging data we defined lacunar infarctions mainly in basal ganglia, thalamus and internal capsule. In the rest 5 cases - in cortex, white matter, frontal, parietal and occipital lobes, cerebellum and brain stem. In 10 children during observation over time the secondary haemorrhage at ischaemic site was detected. Besides post-ischemic alterations additional structural features was assessed in neuroimaging study. Calcification in white mater of brain was reviled in one third children with ischemic stroke (33,4%). Overwhelming majority calcifications in white mater of brain was diagnosed in lenticular-striatal arteries infarctions. Latent factors structure influenced on severity neurologic outcomes was received by partial least square method (PLS). Acquired data emphasize importance of mind depression, vertigo, dysphagia as poor outcome predictors.
Pediatrician (St. Petersburg). 2016;7(4):102-108
Medical Illiteracy of Parents and its Impact on Children’s Health
Ostrovskiy I.M., Prokhorov E.V., Narizhnyy M.J.

Purposeto find out the impact of the medical illiteracy of parents on children’s health.

Materials and Methods:the research method —a questionnaire. Questionnaires distributed among parents of children of all ages —between one year old and seventeen. Analyzed 564 questionnaires. It was indicated the position witnessing about the medical illiteracy of parents. Determined medical illiteracy of parents group and detected medical illiteracy of parents coefficient.

Data.It was found that in the group of medical illiteracy of parents complaints about the health of children was significantly more than in the group without an medical illiteracy of parents and in the total sample. The incidence of bronchitis, pneumonia, tonsillitis (chronic tonsillitis) and children’s infections in the group with the medical illiteracy of parents significantly more than in the whole sample and the group without medical illiteracy of parents. Children from group with medical illiteracy of parents significantly more often complain and consist at a dispensary. In the subgroup of medical illiteracy of parents with a high coefficient obtained even higher morbidity rates. Communication between medical illiteracy of parents and the pathology of pregnancy, the incidence of ARVI and the frequency of antibiotics absent.

Conclusions.The revealed regularities allow to predict the possible violations in the health status of children with medical illiteracy of parents, depending on the coefficient.

Pediatrician (St. Petersburg). 2016;7(4):109-112
The role of local anesthesia to reduce pain after PСNL
Popov S.V., Orlov I.N., Obidnyak V.M., Malevich S.M., Borichev M.V., Basok S.M., Gadzhiev N.K., Tagirov N.S., Pisarev A.V., Malkhasyan V.A., Mazurenko D.A.

The goal of the study was to assess the level of postoperative pain in patients undergoing PCNL after paratubal infiltration with local anesthetic to compare this method of anesthesia with a control group where local anesthesia was not provided. 63 patients were included with kidney stones, confirmed by computer tomography (CT), who were planned to undergo percutaneous nephrolithitomy (PСNL). During the observation 6 patients have been excluded in accordance with the exclusion criteria. The remaining 57 patients were randomized into 2 groups: group A (n= 28) at the end of the operation received paratubal infiltration of 0.5% sol. ropivacaine; group B (n= 29) (controls) — local anesthesia was not used. Postoperative pain was assessed by means of VAS-score 1 hour, 6 hours and 24 hours after surgery. Systemic analgesia was performed with NSAIDs (intramuscular injection of 100 mg ketoprofen) when requested by the patient (Patient-Controlled Analgesia). In patients with local anesthesia, the total VAS score evaluated after 1 and 6 hours after the operation was significantly lower than in the control group. The average amount of ketoprofen required for postoperative analgesia in the group of patients with paratubal infiltration was significantly lower than in the control group. Paratubal infiltration of local anesthetic after PCNL significantly reduced postoperative pain and tended to reduce the amount of NSAIDs to eliminate pain, which in turn may reduce the risk of complications associated with NSAID.

Pediatrician (St. Petersburg). 2016;7(4):113-118
Echocardiography in the differential diagnosis of patent ductus arteriosus in children
Prijma N.F., Popov V.V., Ivanov D.O.
The aim of this study was to attempt to carry out the analysis and interpretation of the clinical course of the disease in children with documented congenital heart disease - patent ductus arteriosus. To compare the data with the size of auscultation of patent ductus arteriosus and the direction to be bypassed through the blood stream, obtained during routine echocardiography. Using echocardiography to examine abnormal diastolic flow in the pulmonary artery trunk, simulating patent ductus arteriosus. Echocardiography was performed in 2173 a child under the age of 1 day of life to 18 years. Of these outpatient echocardiographic study was performed in 1503 children permanently surveyed 670 children. Patent ductus arteriosus was diagnosed in 66 children, which made up 3% of the total surveyed. Of these, 48 girls and 18 boys (ratio 2.6 : 1). In the classification of the identified patent ductus arteriosus, we have a new form of it has been identified and proposed - a continuously recurrent, which met in 5 children. When comparing the data auscultation with different kinds of patent ductus arteriosus was found that the classic “machine” systolic-diastolic murmur, accompanied by only 20% of defects, 60% of the children to listen to a systolic murmur in the 2-3 intercostal space on the left in the sternum, in some cases accompanied by focus 2nd tone of the pulmonary artery. The remaining 20% of the children surveyed, a significant auscultatory pattern generally absent. The paper presents the criteria for echocardiographic diagnosis between patent ductus arteriosus, and pulmonary and aorto-coronary-pulmonary fistulas, and fistulas. It is shown that when rendering the bifurcation of the pulmonary artery from the left parasternal short-axis access, deficiency or complete absence of tissue in the projection of aorto-pulmonary ligaments (ligamentum arteriosum), may indicate the presence of a patent ductus arteriosus.
Pediatrician (St. Petersburg). 2016;7(4):119-127
The efficacy of treatment of early stage of iron-deficiency states in children
Pshenichnaya K.I., Kasatkina T.N.
The deficiency of iron is one of the most widespread deficits. This deficiency is most common in the growing organism. There is a large quantity of oral therapies to correct deficit of iron. Usage of any of them can cause adverse side effects. In each and every case the pediatrician should have options to choose most optimal course of treatment of the iron deficiency state, including latent iron deficiency as iron deficiency anemia prophylaxis. The article represents data of using medical food complex “Sideral” in treatment of outpatient children. The drug was used on 44 children in age between 6 months and 3 years, who were observed in city’s out-patient hospitals. All of the children had abnormalities in clinical blood analysis, which are specific for mild iron deficiency anemia or latent iron deficiency. The treatment results were evaluated by clinical blood analysis. The positive dynamics was observed in 42 of 44 children. In a month after the treatment start, a tendency to hemoglobin, MCV and MCH levels normalization was detected, the complete normalization occurred in two months. The length of medical food comples “Sideral” usage was similar to such, recommended length of other drugs usage, and was equal to 2 months, while using in latent iron deficiency conditions, and equal to 3 month in mild iron deficiency anemia conditions. The conclusion was made that using this medical food is viable in therapy of children with mild forms of iron-deficiency.
Pediatrician (St. Petersburg). 2016;7(4):128-131
Liver dysfunction in pathogenesis of burn disease and its correction with succinate-containing drugs
Brus T.V., Khaytsev N.V., Kravtsova A.A.
Current information on the effects of extensive and deep burns upon the liver functions as well as some novel methods of its correction with succinic acid derivates are reviewed. The liver is the main target organ for extensive burn injuries. Manifestations of cytolytic and cholestatic syndrome were observed already on the first days of the disease. To correct these conditions a comprehensive layout of the infusion of intensive therapy is needed. In burn disease it is impossible to restore the circulating blood volume only by infusion of plasma-substituting solutions. Thus, these cocktails must contain drugs, stabilizing metabolic disorders and reducing the concentration of proinflammatory cytokines. Complex intensive therapy in case of burns should also include correction of energy production within the cells without increasing oxygen transport. Substrate antihypoxic drugs are used in order to reduce the need of tissues for oxygen, stabilization of cell membranes and reduction of lipid peroxidation. Succinic acid is a substrate antihypoxic drug capable of detoxification, antihypoxic, antioxidant and hepatoprotective effects. Its derivates modify cellular respiration, compensate for metabolic acidosis, reducing lactate, pyruvate and citrate concentration, normalize histamine and serotonin concentration, improve microcirculation without affecting systemic hemodynamics. All of these effects are pathogenetically substantiated in the treatment of patients with burns. Data regarding the use of drugs on the basis of succinic acid in the treatment of patients with extensive deep burns, critical and supercritical burns during various periods of burn disease, their influence on the severity of multiple organ dysfunction in these patients, the presence of hepatoprotective effect are reported in a few of publications and their conclusions are so far ambiguous enough.
Pediatrician (St. Petersburg). 2016;7(4):132-141
Whole exome sequencing: principles and diagnostic capabilities
Suspitsin E.N., Tyurin V.I., Imyanitov E.N., Sokolenko A.P.
Diagnostics of genetic diseases in clinical routine often presents a challenge. In particular, most of hereditary diseases are exceptionally rare and therefore unfamiliar to practicing physicians. Furthermore, even if the diagnosis of a particular genetic condition appears convincing on the level of clinical evidence, the causative mutation often remains unknown due to limitations in DNA testing procedures. Recently developed high-throughput sequencing technologies (Next Generation Sequencing, NGS; synonym: massive parallel sequencing) provide a breakthrough in medical genetics. While in the past genetic testing was limited to a single gene or, at best, to a small number of genes, NGS is compatible with a large-scale DNA analysis. One of the most popular applications of NGS is whole exome sequencing (WES), which allows simultaneous reading of coding sequences (exons) of all known genes. Although this technology exists only for a few years, its use has already led to discovery of the causes of more than 150 genetic syndromes. Furthermore, WES may be recommended for the use in clinical routine for selected patients with orphan disease, especially for the families with multiple affected relative. It is likely that WES will become a powerful screening tool in the near future. This review discusses general principles of WES as well as the applications of this technology in medicine.
Pediatrician (St. Petersburg). 2016;7(4):142-146
The Clinical Case Of Symptomatic Epilepsy In Newborn With Neonatal Hypoglycemic Encephalopathy
Melashenko T.V., Guzeva V.V., Malekov D.A.
Symptomatic epilepsy is common disorder in neonatal period. One of the reasons of symptomatic epilepsy can be neonatal hypoglycemia. Hypoglycemia is the commonest metabolic disorder in neonatal period. Neonatal hypoglycemia can cause neonatal hypoglycemic encephalopathy (NHE) with damage of occipital cortex, symptomatic epilepsy in early postnatal period of life and severe neurological impairment in childhood. Early diagnosis of the NHE is possibly by using brain’s MRI and EEG in neonatal period. Presented clinical case of symptomatic epilepsy in newborn with NHE and results of his clinical examination and findings on brain’s MRI, EEG. There has been performance twice EEG recoding in the acute clinical phase of the hypoglycemic encephalopathy with video monitoring. We used multichannel EEG record in the neonatal modification. Once there has been fulfillment MRI (1,5T scanner) in early period of the case disease (after the convulsion discontinuation). We routinely used T1 weighted imaging, T2 weighted imaging, DWI and Flair. We show the correlation functional brain discharge and structural brain damages by MRI in the case of the neonatal hypoglycemic encephalopathy. The EEG recorded epileptiform activity (sharp theta-waves, spices) in central-occipital and temporal regions. We detected the changes MR-signal from central-occipital and temporal brains regions and thinning of occipital cortex with normal cortex architecture
Pediatrician (St. Petersburg). 2016;7(4):147-152
Colobomatous cysts of optic nerve
Sadovnikova N.N., Shereshevsky V.A., Prisich N.V., Brzesky V.V., Li D.Y.

Objectives of publication:presentation of a rare clinical observation from our own practice.

Key points:colobomatous orbital cyst with microphthalmos — rare anomaly of an embryonal development of an eyeball, it is formed owing to “filling” of an optic nerve with the intraocular liquid coming to him from a vitreous chamber through сoloboma of disk because of violation of hydrodynamics in a forward segment of an eye. Usually this anomaly is combined with microphthalmic eye, though cases of a colobomatous cyst with a normal size of an eyeball, and also with other anomalies of development of an eye (inferior uveoretinal coloboma, prepupillary membrane, corneal opacity) are described.

Сlinical observation:during 2015 in our department there were two children to whom after the carried-out inspection the diagnosis of a colobomatous cysts of optic nerve has been exposed. Concerning the first child waiting tactics has been recognized expedient, at repeated surveys in 1 and 4 months of any dynamics in the ophthalmologic status it hasn’t been revealed. To the second child because of the expressed exophthalmos with lagophthalmia, with perforation threat, surgical intervention – a puncture and drainage of a cyst of an optic nerve is performed. After operation the correct situation and mobility of an eyeball were restored, xerotic changes of a cornea and conjunctiva have decreased.

Conclusions:from the pathogenetic mechanism of cystous formation of an orbit, it is more logical to specify the clinical diagnosis a mention in him an optic nerve – “сolobomatous cysts of optic nerve”. Surgical treatment depends on the sizes of cyst, degree of exophthalmos and existence of complications.

Pediatrician (St. Petersburg). 2016;7(4):153-158
Dynamics of indicators of temporary disability in connection with the care of a sick family member (child)
Orel V.I., Rukavishnikov A.S., Danilov V.T., Neroda G.A., Rubezhov A.L., Alekseev P.S., Orel V.V., Gureva N.A., Sharafutdinova L.L.
Examination of temporary disability is one of the types of medical examination which aims to assess the state of health of the patient, the quality and effectiveness of the treatment, the ability to carry out professional activities, as well as determining the extent and timing of temporary disability. A document certifying temporary disability of citizens and confirming their temporary release from work, is sick leave. Piece of disability issued not only in connection with disease of working citizens, but for the period of leave for pregnancy and childbirth, in connection with the quarantine and if necessary care for a sick family member. Examination of temporary disability is the attending physician who alone gives the citizens a sick leave for a period up to 15 calendar days, and in the cases established by the authorized Federal Executive authority, paramedic or dentist that solely give out a leaf of invalidity for the term up to 10 calendar days inclusive. Extension of sick leave for a longer period (but not more than 15 calendar days at a time), by the decision of the medical Commission appointed by the head of the medical organization the number of doctors trained in carrying out examination of temporary disability. This article analyzed the dynamics of morbidity of children population 0-14 years inclusive cases care for this age category with sick leave in Saint Petersburg for the period from 2011 to 2015.
Pediatrician (St. Petersburg). 2016;7(4):159-164

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