Gaucher's Disease in Albanian Children: Casuistics and Treatment

Objective: Gaucher's disease is a rare genetic disorder that results in the accumulation of cerebrosides in the liver, spleen, kidneys, lungs, brain and bone marrow. The deficiency of the specific lysosomal enzyme glucocerebrosidase is considered as causative factor. The first effective treatment for the disease, the drug Ceredase, approved in 1995, was replaced in 2001 by the drug Cerezyme®. Methods: During the period 2004-2009 in our service 11 children were hospitalized and treated for Gaucher's disease: 9 children with type 1, and 2 children with type 3 of the disease. The enzymatic examinations of the biomarker chitotriosidase were performed in Sahlgren's University Hospital, Mölndal Sweden; the DNA analysis was performed in the Children's Hospital & Regional Medical Center, Seattle, USA. Findings: We are presenting the biological and genetic molecular data of the children. In our case series, one year after the treatment started, the hemoglobin level was normalized; the platelet count was normalized in 7 patients after one year of treatment, and in 9 patients after two years of treatment. The hemorrhagic syndrome stopped after 6 months of treatment. Chitotriosidase values decreased 10-20 times the initial value, after one year of treatment and in one case the value reached the normal range. The treatment with Cerezyme® has also improved the visceral and biological signs. Anomalies of the oculomotricity were less sensitive to the treatment. Conclusion: According to our experience, Chitotriosidase is a sensitive and specific marker in diagnosing and monitoring Gaucher's disease. The enzyme replacement therapy through Cerezyme® is an effective and safe treatment of Gaucher's disease. Blood signs (anemia, platelet count); visceral signs (splenomegaly, hepatomegaly) as well as bone involvement showed decisive improvement under the therapy

The 6th Albanian Congress of Trauma and Emergency Surgery

After a three-year quarantine from the deadliest global pandemic of the last century, ASTES is organizing to gather all health professionals in Tirana, The 6th Albanian Congress of Trauma and Emergency Surgery(ACTES 2022) on 11-12 November 2022, with the topic Trauma & Emergency Surgery and not only...with the aim of providing high quality, the best standards, and the best results, for our patients ...ACTES 2022 is the largest event that ASTES (Albanian Society for Trauma and Emergency Surgery) has organized so far with 230 presentations, and 67 foreign lecturers with enviable geography, making it the largest national and wider scientific event.The scientific program is as strong as ever, thanks to the inclusiveness, where all the participants with a mix of foreign and local lecturers, select the best of the moment in medical science, innovation, and observation.The scientific committee has selected all the presentations so that the participants of each medical discipline will have something to learn, discuss, debate, and agree with updated methods, techniques, and protocols.I hope you will join us on Friday morning, and continue the journey of our two-day event together