The purpose of study was to analyze clinical and genetic polymorphism of Duchenne/Becker progressive muscular dystrophies among patients with neuromuscular diseases in Uzbekistan. 106 male patients with progressive pseudohypertrophic forms of muscular dystrophy were retrospectively and prospectively analyzed in the period from 2004 till 2014: 93 patients with Duchenne PMD aged from 3 years to 18 years and 13 patients with Becker PMD aged from 10 years to 25 years, who had been examined in the medico-genetic consulting department of the Republican Center “Mother and Child Screening” of Tashkent city. Comprehensive clinical, neurophysiological, biochemical and genetic study of patients as the integral part in the differential diagnosis of Duchenne/Becker progressive muscular dystrophies allows creating the national database on D/B PMD to prevent the birth of children in families burdened by this disease., Umida Tulkinovna Omonova, and Literatura
Olovo je kumulativní jed, který je zvláště nebezpečný pro malé děti. I při nízké úrovni expozice, která byla dříve považována za bezpečnou, poškozuje vývoj mozku a nervového systému, což vede k poruchám chování a snížení inteligence dětí. Hlavním zdrojem expozice olovu je potrava. Pitná voda může představovat významný příspěvek expozice olovu ve starých budovách s původními olověnými rozvody vody. Cílem prezentované práce bylo získat základní informaci o expozici olovu z pitné vody ve vytipovaných školských zařízeních ve starých budovách v Pardubickém kraji a o možném zdravotním riziku pro děti. V letech 2013 a 2014 byly v součinnosti se Zdravotním ústavem vyšetřeny vzorky pitné vody ve 20 školských zařízeních. Vzorky byly odebrány jak ráno po noční stagnaci vody v potrubí, tak náhodně během dne. Zvýšený obsah olova ve srovnání s dodávanou vodou z vodovodu byl zjištěn ve většině zařízení. V téměř polovině zařízení byly nalezeny zvýšené koncentrace olova i ve vzorcích náhodně odebraných během dne při provozu školy a ve 3 zařízeních bylo zjištěno překročení současného hygienického limitu 10 µg/l. Při charakterizaci rizika vývojové neurotoxicity u dětí byla použita Metodika rozdílu expozic (MOE), doporučená EFSA. Výsledkem je konstatování, že i podlimitní obsah olova v pitné vodě ve školském zařízení může představovat sice malé, ale ne úplně zanedbatelné riziko nepříznivého ovlivnění nervového vývoje u dětí. Do péče o zdravé prostředí předškolních a školních zařízení by proto měla patřit i eliminace tohoto potenciálního rizika., Lead is a cumulative toxicant that is particularly harmful to young children. Even at lower levels of exposure that were previously considered safe, lead damages brain and nervous system development resulting in behavioural changes and decreased intelligence of children. The main source of lead exposure is food. An important contributor to lead exposure may be the tap water in old buildings, having the original lead plumbing. The aim of the present study was to obtain basic information about lead exposure from drinking water in selected educational facilities placed in old buildings in the Pardubice Region as well as the possible health risks for the children. Between 2013 and 2014, in collaboration with the Public Health Institute, samples of drinking water in 20 educational facilities were examined. The samples were taken both in the morning after overnight water stagnation in the pipes and randomly during the day. In most facilities the lead content was increased as compared to water regularly supplied in the mains. In almost half of the monitored facilities increased lead content was detected even in the samples taken during the day. In three facilities the lead content exceeded the current lead content limit 10 µg/l. To characterize the risk of developmental neurotoxicity in children, the methodology "margin of exposure" (MOE), recommended by EFSA, was used. The result is, that even a lower lead content in drinking water of school facilities than the regulatory limit value may pose a small but not entirely negligible risk of neurodevelopmental effects. Care for the healthy environment at preschool and school facilities should therefore also include the elimination of this potential risk., Bohumil Havel, Dagmar Švadlenková, Lenka Labudová, Jakub Havel, Otto Horníček, and Literatura
The review focuses on a very peculiar aspect of the application of copper containing biologically active compounds of different chemical classes as have shown at the last scientific researches in the field of Cu (II) chelates, chelates possess have a higher activity of the same sort, than their mother compounds. The presented material shows essentially important qualities of Cu (II) containing compounds in biological aspect and has an interest for chemists, biochemists and pharmacologists., Sedrak Ghazaryan, and Literatura
Aim: The principal aim was to establish reference paediatric data for the serum homocysteine levels in Czech children and adolescents. Methods and Results: 144 children either healthy or not sufferig from acute or chronic inflammation, autoimmune disorders including rheumatic diseases, inflammatory musculoskeletal disorders, inflammatory bowel disease, diabetes mellitus, hypercholesterolemia, epilepsy, chronic renal failure, aged 0–19.9 years (0–6.9 years, n = 40; 7–10.9 y, n = 28; 11–15.9 y, n = 45; 16–19.9 y, n = 31) had their blood samples collected and the serum homocysteine level (S-homocysteine) was evaluated by chemiluminescence. A significant age dependence of the S-homocysteine levels was observed (R = 0.35, p < 0.01); with highest values of upper reference range in the 11–15.9 and 16–19.9 years’ group, respectively. Conclusion: The establishment of S-homocysteine reference Czech pediatric values is a potentially useful tool for proper evaluation of elevated homocysteine levels and corresponding risks in childhood., Vladimír Němec, Eva Bočkayová, Štěpán Kutílek, and Literatura 30
Úvod: Přítomnost spolknutých cizích těles v zažívacím traktu patří mezi časté problémy u dětí. Nejčastější výskyt je u dětí od 6 měsíců do 5 let. Většina spolknutých předmětů vyjde per vias naturales, 10–20 % spolknutých těles vyžaduje endoskopické vynětí. Závažné a život ohrožující stavy způsobují spolknutá cizí tělesa asi v 1 % všech případů. Kazuistika: Jedná se o případ dvouleté dívky, u které byla diagnostikována náhlá příhoda břišní, pro niž byla operována. Peroperačně byl nalezen volvulus tenkého střeva a několik střevních píštělí. Příčinou tohoto nálezu byly spolknuté magnetické kuličky a k nim magnetickou silou přitažené spolknuté kovové těleso. Závěr: V případě spolknutí více než jednoho magnetického tělesa je nutné pacienta hospitalizovat a endoskopicky cizí tělesa extrahovat. Neměnící se poloha magnetů v průběhu 24–48 hodin v místě nedostupném pro endoskop je indikací k akutní operaci., Introduction: The occurrence of swallowed foreign bodies in the digestive system is a common problem in children with the highest incidence in children aged six months to five years. Most swallowed objects leave the human body per vias naturales while 10–20% of swallowed foreign bodies need to be removed with an endoscope. Serious and life-threatening situations are caused by the ingestion of foreign bodies in about 1% of all cases. Case report: The authors present a case of a two-year-old girl diagnosed with acute abdomen for which she was operated on. A small bowel volvulus and several intestinal fistulas were found intraoperatively. The cause of this finding was the ingestion of magnetic balls and a swallowed metal body drawn to them by magnetic force. Conclusion: If more than one magnetic body is ingested, it is necessary to admit the patient to hospital and to remove these foreign bodies using an endoscope. The position of the magnets which is not changing in a location inaccessible for an endoscope during 24−48 hours is an indication for urgent operation., and D. Kubačková, J. Nosek, V. Třeška, V. Vacek, K. Pizingerová
Many aspects of surgical treatment of intestinal malrotation in children remain to be debatable. In the opinion of the majority of the specialists, surgical treatment is required after the diagnosis taking into account serious complications of intestinal malrotation. Purpose. The purpose of this research was to conduct an analysis of surgical tactics and operative treatment method for isolated and associated intestinal malrotations in children. Material and methods. We observed 123 children at the age of one day to 15 years with malrotation during the period of 2002 to 2013. Results. We presented the data from observing 123 children at the age of one day to 15 years with various clinical-anatomic forms of intestinal malrotation over from 2002 to 2013. In 62 patients (50.4%), the evidences of the high intestinal obstruction were prevalent, while 61 (49.6%) showed signs of low intestinal obstruction. 116 patients (94,3%) were given operative intervention: radical – 95(81,9%) and palliative – 21 (18,1%). In 56 % of the cases, various simultaneous surgeries were required. There are proposed differential approaches in relation to anatomic form of malrotation and possibility of the fixation of large intestine in the physiological position. Conclusion. The results obtained from the operative treatment are presented. The lethal outcomes could be reduced from 54.7%, among the patients being observed from 2002 to 2010, to 16,7% in patients being operated during 2011 to 2013., Nasriddin Shamsiddinovich Ergashev, Jamoliddin Bahronovich Sattarov, and Literatura
Background. Nonunion of the lateral humeral condyle are of the complex pathology of the elbow joint, occurring relatively often and resulting in disability of children. The treatment of nonunion of the lateral humeral condyle of humerus with cubitus valgus remains controversial. Purpose of this report was improvement of the results of surgical treatment of the nonunion of the lateral humeral condyle of humerus with cubitus valgus of the lateral humeral condyle of humerus with cubitus valgus with use of differential approach to the surgical strategy. Material and methods. We were observing 28 children (17 boys and 11 girls) with nonunion and longstanding nonunion of lateral condyle of humerus, with various degrees of severity. There were used MRI and Xray investigations for differential study of the patients divided into 3 groups in relation to stability and nonstability of the nonunion of the lateral humeral condyle of humerus with cubitus valgus of the lateral humeral condyle of humerus with cubitus valgus. Results. All 28 patients lateral humeral condyle nonunions with cubitus valgus achieved union within sixty five days after operative procedure using Ilisarovs technique. The mean postoperative humerusulna angle was 6,0 degrees of cubitus valgus. All of reverse Tosteothomies healed uneventfully, and there was no loss of correction postoperatively. The mean duration of followup was 7 years. The overall results were excellent in 15(53,5%) patients, good in 11(39,3%) patients, and fair in 2(7,2%) patients. All 28 patients lateral humeral condyle nonunions with cubitus valgus achieved union within sixty five days after operative procedure using Ilisarovs technique. The mean postoperative humerusulna angle was 6,0 degrees of cubitus valgus. All of reverse Tosteothomies healed uneventfully, and there was no loss of correction postoperatively. The mean duration of followup was 7 years. The overall results were excellent in 15(53,5%) patients, good in 11(39,3%) patients, and fair in 2(7,2%) patients. Conclusion. We believe it is reasonable to use our treatment method when dealing with nonunion of the lateral humeral condyle with cubitus valgus. These differential techniques helps to shape the distal part of humerus, thus, restoring the function of the elbow joint., Ilkhom E. Khujanazarov, Iskandar U. Khodjanov, and Literatura
The acute destructive pneumonias (ADP) occupy up to 80% of the total number of pneumonias. They require constant improvement of treatment strategy. Nowadays the use of surfactants is a part of most treatment protocols. The aim was to study the features of the solid phase bronchoalveolar lavage in children with the ADPs in the dynamics of complex treatment with exogenous surfactant. Material and methods: We examined 39 patients of contaminated surgery. We identified 2 groups of patients. The patients of first group (n=27) had pulmonary pleural form of ADP, the second group (n=12) had pulmonary form of ADP. All patients got classical treatment and the earlier draining of pleural cavity. We used as an antiseptic reamberin 1.5% by 10 ml/kg and endobronchially injected exogenous surfactant Bl in dose12 mg/kg body weight a day, 6 mg/kg every 12 hours. All the children were made a bronchoscopy to obtain BAL to study the crystallization properties. The solid phase of BAL was studied by method of cuneal dehydration. Results: All facies before treatment were divided into two groups according to classification of facies of biological fluids. Only the facies of the second and the third types were detected there. It was revealed that the sizes of the zones of the facies were different in the comparison groups before treatment and after. And the level of crystalline structures and amorphous aggregates were different in the groups with different degrees of inflammation. Conclusion: So, we can assume that the change in surfactant system is characterized by changes in the morphological structure of solids phases of BAL. And the morphological structure of BAL depends on the chemical composition of BAL., Yuliya Modna, Tatiana Tananakina, Elina Dyka, Ievgen Mozhaiev, Pavlo Borodin, and Literatura
Retrospektivní dotazníkové šetření, jehož cílem bylo prokázat, že kouření matek a kouření v domácnostech sledovaných dětí má signifikantní vliv na zvýšení celkové nemocnosti, respiračních infekcí a zánětů středního ucha u dětí do tří let věku, probíhalo v Brně a na jižním Slovensku. Zahrnovalo 120 matek (60 z ČR a 60 z SR) tříletých dětí za spoluúčasti příslušných registrujících praktických pediatrů. Ve sledovaném souboru jsme zaznamenali nejnižší celkovou nemocnost i počet respiračních onemocnění v nekuřáckých domácnostech. Nejvyšší celková nemocnost i počet onemocnění byl v rodinách matek kuřaček, kdy v domácnosti nikdo jiný nekouřil. Studie je v souladu se zahraničními i českými studiemi, které popisují zvýšení nemocnosti a respiračních onemocnění v souvislosti s expozicí tabákovému kouři u dětí do tří let věku., The retrospective data collection whose aim was to prove the effects of smoking associated with the increase of overall illness rate, respiratory infections and the inflammation of the middle ear in children up to the age of 3 living with smoking mothers and in smoking households was carried out in Brno, Czech Republic (CR) and in Southern Slovakia (SR). The study involved 120 mothers of 3 year old children (60 from the CR and 60 from the SR) and the participating practicing pediatricians. The lowest overall illness rate and the lowest number of respiratory diseases was found in the no-smoking families within the monitored group. The highest overall illness rate and the highest number of diseases was encountered in the families of smoking mothers with nobody else smoking in the family. The study is in accordance with foreign and Czech studies that describe an increase in the illness rate and respiratory diseases related to exposure to tobacco smoke in children up to 3 years of age., Ildikó Nagy, Martin Sebera, and Literatura