TürkiyeResearch and clinical trials
Children with PCD at Hacettepe: lung function values lower in those with Pseudomonas in the lungs
Hacettepe University reviewed the records of 290 patients with PCD.
Peer-reviewed publicationPCD
Rare Diseases
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New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
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TürkiyeResearch and clinical trials
Guillain-Barré after COVID-19 in Istanbul: the type affecting the nerve sheath was more common
A multicenter study in Istanbul compared patients with Guillain-Barré syndrome.
Peer-reviewed publicationGuillain-Barré
TürkiyeResearch and clinical trials
Bursa study looks at how young people with CAH move from pediatric to adult doctors
At Bursa Uludağ University, the move of 29 young people with CAH (congenital adrenal hyperplasia) from pediatric to adult doctors was studied.
Peer-reviewed publicationCAH
TürkiyeResearch and clinical trials
More than a third of 104 PNH patients receiving eculizumab in Türkiye reported severe fatigue
A face-to-face survey was conducted with 104 PNH patients at 18 centers in Türkiye.
Peer-reviewed publicationPNH
TürkiyeResearch and clinical trials
200 patients with early-stage pulmonary sarcoidosis in Istanbul: the disease flared up again in about one in five
Koç University followed 200 patients diagnosed by biopsy for up to 15 years.
Peer-reviewed publicationSarcoidosis
TürkiyeResearch and clinical trials
40 infants with infantile spasms in Ankara: oral cortisone and ACTH gave similar results
Gazi University studied 40 infants with infantile spasms.
Peer-reviewed publicationWest syndrome
TürkiyeResearch and clinical trials
Brain MRI findings in more than half of children with Noonan syndrome in Ankara
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
Peer-reviewed publicationNoonan
TürkiyeResearch and clinical trials
95 adults with CVID in Konya: one third have a hormone gland disease
A total of 95 adults with CVID followed in Konya were studied.
Peer-reviewed publicationCVID
TürkiyeResearch and clinical trials
Congenital myasthenic syndrome in 133 children from 28 centers in Türkiye: diagnosis delayed by 2 years on average
In Türkiye, 133 children from 28 centers were studied.
Peer-reviewed publicationCongenital myasthenia
TürkiyeResearch and clinical trials
Sotos syndrome study from 14 centers in Türkiye: 48 children studied
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome.
Peer-reviewed publicationSotos
TürkiyeResearch and clinical trials
Valve as a second operation in congenital glaucoma: success declined markedly over 5 years in Ankara
Gazi University studied the eyes of 27 children.
Peer-reviewed publicationCongenital glaucoma
TürkiyeDiagnosis and screening
In Istanbul, combined genetic tests confirmed 121 diagnoses among 135 people referred with suspected FSHD
At a center in Istanbul, 135 people were seen with suspected FSHD.
Peer-reviewed publicationFSHD
TürkiyeResearch and clinical trials
11 children with XLA in Elazığ: diagnosed at a median age of 4.5 years, with fewer infections on treatment
Long-term records of children with X-linked agammaglobulinemia were reviewed at Fırat University in Elazığ.
Peer-reviewed publicationXLA (Bruton)
TürkiyeDiagnosis and screening
Newborn SMA screening in Türkiye: death rate fell markedly in babies found early
The effect of newborn screening for spinal muscular atrophy (SMA) in Türkiye was examined in a national multicenter study.
Peer-reviewed publicationSMA
TürkiyeResearch and clinical trials
Simple test tried to measure heart and diabetes risk in 14 children with Bardet-Biedl syndrome in Istanbul
At Istanbul Faculty of Medicine, 14 children were studied.
Peer-reviewed publicationBardet-Biedl
TürkiyeDiagnosis and screening
Broad genetic testing in inherited nerve disease: cause found in three quarters of 63 families in Istanbul
Koç University studied 67 people with suspected CMT.
Peer-reviewed publicationCMT
TürkiyeDiagnosis and screening
In Istanbul, heel-prick blood for CAH screening is taken later in migrant babies
In Sultanbeyli, Istanbul, the screening of 5,934 babies for CAH (congenital adrenal hyperplasia) over one year was reviewed.
Peer-reviewed publicationCAH
TürkiyeResearch and clinical trials
91 Hirschsprung operations over 17 years in Ankara: most long-term problems resolved without surgery
At a pediatric surgery center in Ankara, 91 patients with Hirschsprung disease were reviewed.
Peer-reviewed publicationHirschsprung
TürkiyeResearch and clinical trials
In Izmir, cornea models made from cells of patients with aniridia; two drugs tested in the lab
Researchers in Izmir produced small cornea models from the cells of patients with aniridia.
Peer-reviewed publicationAniridia
TürkiyeDiagnosis and screening
18 children with Dravet syndrome in Istanbul: when genetic diagnosis was delayed, some drugs increased seizures
At Bezmialem Vakıf University, 60 children underwent SCN1A gene testing.
Peer-reviewed publicationDravet syndrome