Bratisl Med J
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Case Reports
A case of Rett syndrome from Ukraine--clinical diagnosis confirmed by mutation analysis of the MECP2 gene.
Rett syndrome (RTT) is an X-linked disorder caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). The incidence is 1:10,000-1:15,000 females worldwide. To date, the mutational spectrum of MECP2 in the Ukrainian population is not known. ⋯ Localization of the mutation into the transcription repression domain (TRD) probably affects the function of MECP2 protein in the process of transcriptional repression. To our knowledge this is the first case from Ukraine, in whom clinical diagnosis of RTT was confirmed by mutation analysis of MECP2 gene. Mutation analyses of further patients are needed to establish the spectrum of MECP2 mutations in the Ukrainian population. (Tab. 1, Fig. 3, Ref. 22.)
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Inhalation of high concentration of oxygen produces a lung injury in men and experimental animals. In our previous experiment we have found suppression of cough reflex in healthy guinea pigs after an exposure to 100% O2 for 60 hours. This study was designed to find the effect of hyperoxia on cough reflex in guinea pigs with lungs damaged by bleomycin. ⋯ Cough was also induced by mechanical stimulation of laryngopharyngeal (LPh) and tracheobronchial (TBr) region in anaesthetized animals (Urethane, 1.1 g/kg, i.p.) just after the end of oxygen exposition and was evaluated from the interpleural pressure record. The results have shown a tendency to inhibition of citric acid cough reflex in animals 13 days treated with bleomycin and exposed to 100% O2, and significant decrease in citric acid induced cough in animals 20 days treated with bleomycin and exposed to 100% O2. Significant changes were present in cough intensity induced by mechanical stimulation of TBr region of the guinea pigs airway treated with bleomycin and exposed to oxygen, too. (Tab. 1, Fig. 3, Ref: 29.)
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Cough is the most important defence reflex of the airways. Little information exists about participation of the ion channels in the mechanism of the cough reflex. ⋯ Experimental results showed antitussive activity of the calcium-channel blocker diltiazem and suggested the role of voltage-gated calcium channels of type L in mechanism of the cough reflex. (Fig. 4, Ref. 15.).
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The authors evaluated the benefits of the arthroscopic debridement performed in the same session with the high tibial osteotomy in the management of the knee joint of osteoarthritis connected with varus or valgus deformity. ⋯ The arthroscopy performed before high tibial osteotomy in the same session helped to detect a significant intraarticular disorder and the arthroscopic debridement improved the end results after high tibial osteotomy. (Ref. 16.)
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The authors made a retrospective analysis of results and complications of elective tracheostomies performed by percutaneous dilatational technique (PDT) as well as standard surgical procedure (ST) in critically ill patients in the ICU. The indication for tracheostomy was to facilitate long-term mechanical ventilation, to facilitate cleaning and management of the airway and to maintain upper airway patency. During a 5-year period there were 495 elective tracheostomies performed in the ICU setting, in 209 females and 286 males. ⋯ Late postoperative complications totaled 7 (1.4%). Percutaneous dilatational tracheostomy is an alternative method to standard surgical tracheostomy in critically ill patients in the ICUs. Standard surgical tracheostomy is an irreplaceable procedure in patients with complex anatomic condition or in high-risk patients. (Tab. 3, Ref. 11).