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[Notes from practice]
Mane Dzhilavyan; Igor Kirgizov; Ludmila Kuzenkova; Tatyana Podkletnova; Andrei Alekseev; Andrey Rybalko; Anait Gevorkyan;
Тhe problem of rare diseases has got a new chance with new and effective methods of treatment of mucopolysaccharidosis. «Orphan» drugs are capable to prolong the patient’s life, greatly improve health status and even stop the progression of the disease and promote full social adaptation. In some cases a surgical treatment is required to improve the patient’s life quality and reduce the number of complications. Complexity of surgical treatment in these patients is mainly caused by anesthesia. The article presents a clinical case endoscopically assisted intubation and laparoscopic fundoplication by Nissen with laparosccopically assisted gastrostomy in patient M., aged 16, suffered from mucopolysaccharidosis.
References:
1. Vashakmadze N. D., Namazova-Baranova L. S., Gevorgyan A. K., Kuzenkova L. M., Christochevsky A. D., Vysotskaya L. M., Dadashev A. S. Pediatric Pharmacology. 2011;5:6–12.
2. Buhain et al. J. Inherit Metab. Dis. 2013;36(2):201–210.
3. Roberto Giugliani, Paul Harmatz, James E. Wraith, Pediatrics Management Guidelines for Mucopolysaccharidosis VI. 2007;120:405.
4. Rowney D. A., Aldridge L. M. et al. Ped. Endosurgery & Innovative Tech. 2000;4(1):25–29.
5. Semenza G. L., Prabhakar N. R. Antiox. Redox. Signal. 2007;9:1391–1396.
6. Steven Sims H., Kempiners J. J. Respir. Med. 2007;101(8):1779–1782.
Keywords: pediatric surgery, mucopolysacharidosis, laparoscopic fundoplication by Nissen, laparoscopically assisted gastrostomy, endoscopically assisted intubation