Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
140 updates · page 5/7
TürkiyeDiagnosis and screening
At Hacettepe University, the sleep recordings of 7 people with Creutzfeldt-Jakob disease were studied.
TürkiyeResearch and clinical trials
In Rize and Istanbul, 6 patients with ichthyosis due to the ALOX12B gene were studied.
TürkiyeResearch and clinical trials
At Ankara Bilkent City Hospital, 24 children with myotonic dystrophy type 1 were studied.
TürkiyeResearch and clinical trials
In Istanbul, 25 patients were tested with a multigene panel.
TürkiyeDiagnosis and screening
Ege University applied a scoring chart to 38 patients with a confirmed genetic diagnosis of FCS.
TürkiyeResearch and clinical trials
In Istanbul, 24 babies diagnosed with infantile spasms were monitored during low-dose ACTH treatment.
TürkiyeResearch and clinical trials
Istanbul Faculty of Medicine studied 54 women with Wilson disease.
TürkiyeResearch and clinical trials
A total of 48 patients from different regions of Türkiye underwent eye and ear examinations.
TürkiyeResearch and clinical trials
Led by Istanbul University-Cerrahpaşa, a survey was conducted with families of children with Still's disease.
TürkiyeDiagnosis and screening
Genetic testing was performed on adults diagnosed with common variable immunodeficiency at Istanbul University.
TürkiyeResearch and clinical trials
At Istanbul Cerrahpaşa, 12 patients from eight families were studied.
TürkiyeResearch and clinical trials
Genetics teams in Ankara and Trabzon studied patients with Kabuki syndrome.
TürkiyeResearch and clinical trials
Children with HSP who had received a genetic diagnosis at a center in Adana were reviewed retrospectively.
TürkiyeResearch and clinical trials
Patients with FMF (familial Mediterranean fever) in Türkiye were counted using the Ministry of Health's e-Nabız records.
TürkiyeResearch and clinical trials
In Ankara, eye doctors followed five children with VKH disease over a long period.
TürkiyeResearch and clinical trials
In Istanbul, a 28-year-old patient received a stem cell transplant and recovered.
TürkiyeResearch and clinical trials
Istanbul University gave choline for 8 weeks to 15 patients whose homocysteine remained high despite treatment.
TürkiyeResearch and clinical trials
A total of 252 Takayasu patients from 11 rheumatology centers in Türkiye were studied.
TürkiyeHealth policy
Health Minister Kemal Memişoğlu announced that the synthesis of the active ingredient nusinersen has been completed.
TürkiyeResearch and clinical trials
In Eskişehir, 350 muscle biopsies taken between 2013 and 2024 were reviewed retrospectively.