OMBUDSMAN IN TURKEY: ITS CONTRIBUTIONS AND CRITICISM

Ombudsman institution is an independent, impartial, and a legal body which aims to protect the ruled ones against the trend of lawful authority, eliminate bad management practices, and act upon a complaint or ex officio. Ombudsman has authority in the investigation of incident, analysis, and in the making of announcement to the general public. With the legal arrangement made in Turkey, ombudsman institution has an Ankara-based special budget and legal entity connected to the Grand National Assembly of Turkey. The transition of the ombudsman institution into a constitutional institution has made significant contributions to both public administration and also to the citizens. This paper aims to study the various contributions and criticisms of the ombudsman institution in our country, Turkey

OMBUDSMAN IN TURKEY: ITS CONTRIBUTIONS AND CRITICISM

Ombudsman institution is an independent, impartial, and a legal body which aims to protect the ruled ones against the trend of lawful authority, eliminate bad management practices, and act upon a complaint or ex officio. Ombudsman has authority in the investigation of incident, analysis, and in the making of announcement to the general public. With the legal arrangement made in Turkey, ombudsman institution has an Ankara-based special budget and legal entity connected to the Grand National Assembly of Turkey. The transition of the ombudsman institution into a constitutional institution has made significant contributions to both public administration and also to the citizens. This paper aims to study the various contributions and criticisms of the ombudsman institution in our country, Turkey

Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations

Autosomal-recessive mutations in the Alsin Rho guanine nucleotide exchange factor (ALS2) gene may cause specific subtypes of childhood-onset progressive neurodegenerative motor neuron diseases (MND). These diseases can manifest with a clinical continuum from infantile ascending hereditary spastic paraplegia (IAHSP) to juvenile-onset forms with or without lower motor neuron involvement, the juvenile primary lateral sclerosis (JPLS) and the juvenile amyotrophic lateral sclerosis (JALS). We report 11 patients from seven unrelated Turkish and Yemeni families with clinical signs of IAHSP or JPLS. We performed haplotype analysis or next-generation panel sequencing followed by Sanger Sequencing to unravel the genetic disease cause. We described their clinical phenotype and analyzed the pathogenicity of the detected variants with bioinformatics tools. We further reviewed all previously reported cases with ALS2-related MND. We identified five novel homozygous pathogenic variants in ALS2 at various positions: c.275_276delAT (p.Tyr92CysfsTer11), c.1044C>G (p.Tyr348Ter), c.1718C>A (p.Ala573Glu), c.3161T>C (p.Leu1054Pro), and c.1471+1G>A (NM_020919.3, NP_065970.2). In our cohort, disease onset was in infancy or early childhood with rapid onset of motor neuron signs. Muscle weakness, spasticity, severe dysarthria, dysphagia, and facial weakness were common features in the first decade of life. Frameshift and nonsense mutations clustered in the N-terminal Alsin domains are most prevalent. We enriched the mutational spectrum of ALS2-related disorders with five novel pathogenic variants. Our study indicates a high detection rate of ALS2 mutations in patients with a clinically well-characterized early onset MND. Intrafamilial and even interfamilial diversity in patients with identical pathogenic variants suggest yet unknown modifiers for phenotypic expression

Dabigatran use in Danish atrial fibrillation patients in 2011: a nationwide study

OBJECTIVE: Dabigatran was recently approved for anticoagulation in patients with atrial fibrillation (AF); data regarding real-world use, comparative effectiveness and safety are sparse. DESIGN: Pharmacoepidemiological cohort study. METHODS/SETTINGS: From nationwide registers, we identified patients with an in-hospital or outpatient-clinic AF diagnosis who claimed a prescription of dabigatran 110 or 150 mg, or vitamin K antagonist (VKA), between 22 August and 31 December 2011. HRs of thromboembolic events (ischaemic stroke, transitory ischaemic attack and peripheral artery embolism) and bleedings were estimated using Cox regression analyses in all patients and stratified by previous VKA use. RESULTS: Overall, 1612 (3.1%) and 1114 (2.1%) patients claimed a prescription of dabigatran 110 and 150 mg, and 49640 (94.8%) of VKA. Patients treated with dabigatran 150 mg were younger with less comorbidity than those treated with dabigatran 110 mg and VKA, as were VKA naïve patients compared with previous VKA users. Recommendations set by the European Medicine Agency (EMA) for dabigatran were met in 90.3% and 55.5% of patients treated with 110 and 150 mg. Patients treated with 150 mg dabigatran, who did not fulfil the recommendations by EMA, were >80 years, patients with liver or kidney disease, patients with previous bleeding. Compared with VKA, the thromboembolic risk associated with dabigatran 110 and 150 mg was HR 3.52 (1.40 to 8.84) and 5.79 (1.81 to 18.56) in previous VKA users, and HR 0.95(0.47 to 1.91) and 1.14(0.60 to 2.16) in VKA naïve patients. Bleeding risk was increased in previous VKA users receiving dabigatran 110 mg, but not in patients with 150 mg dabigatran, nor in the VKA naïve users. CONCLUSIONS: Deviations from the recommended use of dabigatran were frequent among patients treated with 150 mg. With cautious interpretation, dabigatran use in VKA naïve patients seems safe. Increased risk of thromboembolism and bleeding with dabigatran among previous VKA users was unexpected and may reflect patient selection and ‘drug switching’ practices

An integrated diagnosis strategy for congenital myopathies

Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor) mutations in six patients and NEB (nebulin) mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity

withdrawn 2017 hrs ehra ecas aphrs solaece expert consensus statement on catheter and surgical ablation of atrial fibrillation

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Prepubertal juvenile myasthenia gravis; a case with early onset and bulbar symptoms [Prepubertal juvenil miyastenia gravis; bulber semptomlar i·le erken başlangi{dotless}çli{dotless} bir olgu]

Juvenile myasthenia gravis (JMG) is a rare autoimmune disease affecting the neuromuscular junction in children and adolescents. Its clinical presentation is usually associated with ethnicity and pubertal development. We present a 14 month old patient with, bulbar symptoms and a good clinical course. The age of onset in this case is lower than average and the case is in pharmacological remission after medical treatment. Prepubertal JMG is very rare during infancy in Caucasians and ocular symptoms are more common in prepubertal patients. This Caucasian case is uncommon since she has presented with bulbar symptoms and early onset