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PMID = 32755513

PubMedID: 30015621 Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages of 2-13 years, diagnosis is usually delayed until adulthood. Some individuals with the same genetic defect develop a condition named hyperphosphatemic hyperostosis syndrome. Herein we report two siblings suffering from periarticular, warm, hard and tender subcutaneous masses. Subcutaneous calcifications were present on X-ray and biopsy results were consistent with calcinosis in both patients. Laboratory results showed marked hyperphosphatemia and elevated renal tubular phosphate reabsorption rates, normal renal function tests and normal serum 25-hydroxyvitamin D levels. Thus, we suspected HFTC and performed next generation sequencing for the GALNT3 gene, reported as the most frequent cause. A novel homozygote P85Rfs*6 (c.254_255delCT) mutation in GALNT3 was identified in both siblings. Our report adds two new patients to the literature about this rare genetic disease and suggests that small deletions in the GALNT3 gene may be related with HFTC phenotype. © 2019 by Turkish Pediatric Endocrinology and Diabetes Society.

Objective: To evaluate and compare the efficiencies of cytologic test methods conventional Pap smear (CVS) versus Thin Prep liquid-based cytology technique (TPT) in the histologic diagnosis of the precancerous lesions of the cervix and cervical cancer. Materials and Methods: We selected randomly 1203 non-gravid women who were admitted to gynecology and menopause out-patient clinics of our hospital in the study. The cervical smear tests of all women were evaluated both using the conventional Pap smear and the TPT. Cytological examinations were compared according to their adequacy for evaluation. The evaluation of samples were performed and compared according to The Bethesda System. Results: The two screening methods were statistically compatible for evaluating the samples (?=0,379 and p, were funded by Ankara Education and Research Hospital foundation.

Aerial robots, meaning robots with flying capabilities, are essentially robotic platforms, which are autonomously controlled via some sophisticated control engineering tools. Similar to aerial vehichles, they can overcome the gravitational forces thanks to their design and/or actuation type. What makes them different from the conventional aerial vehicles, is the level of their autonomy. Reducing the complexity for piloting of such robots/vehicles provide the human operator more freedom and comfort. With their increasing autonomy, they can perform many complicated tasks by their own (such as surveillance, monitoring, or inspection), leaving the human operator the most high-level decisions to be made, if necessary. In this way they can be operated in hazardous and challenging environments, which might posses high risks to the human health. Thanks to their wide range of usage, the ongoing researches on aerial robots is expected to have an increasing impact on the human life. Aerial Physical Interaction (APhI) is a case, in which the aerial robot exerts meaningful forces and torques (wrench) to its environment while preserving its stable flight. In this case, the robot does not try avoiding every obstacle in its environment, but prepare itself for embracing the effect of a physical interaction, furthermore turn this interaction into some meaningful robotic tasks. Aerial manipulation can be considered as a subset of APhI, where the flying robot is designed and controlled in purpose of manipulating its environment. A clear motivation of using aerial robots for physical interaction, is to benefit their great workspace and agility. Moreover, developing robots that can perform not only APhI but also aerial manipulation can bring the great workspace of the flying robots together with the vast dexterity of the manipulating arms. This thesis work is addressing the design, modeling and control problem of these aerial robots for the purpose of physical interaction and manipulation. Using the nonlinear mathematical models of the robots at hand, in this thesis several different control methods (IDA-PBC, Exact Linearization, Differential Flatness Based Control) for APhI and aerial manipulation tasks have been developed and proposed. Furthermore, novel design tools (e.g. new rigid/elastic manipulating arms, hardware, software) to be used together with miniature aerial robots are presented within this thesis, which contributes to the robotics society not only in terms of concrete theory but also practical implementation and experimental robotics.

This document is a technical report that reports the results and proofs of the differential flatness of protocentric manipulators.

To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professionals in 165 PKU centers in 23 European countries. The responses were compiled and descriptive analyses were performed. One hundred and one questionnaires were returned by 93/165 centers (56%) from 19/23 European countries (83%). The majority of respondents (77%) managed patients of all age groups and more than 90% of PKU teams included physicians or dieticians/nutritionists. The greatest variability existed especially in the definition of PKU phenotypes, therapeutic blood phenylalanine (Phe) target concentrations, and follow-up practices for PKU patients. The tetrahydrobiopterin (BH4 ; sapropterin) loading test was performed by 54% of respondents, of which 61% applied a single dose test (20mg/kg over 24h). BH4 was reported as a treatment option by 34%. This survey documents differences in diagnostic and treatment practices for PKU patients in European centers. In particular, recommendations for the treatment decision varied greatly between different European countries. There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline. Copyright (c) 2009 Elsevier Inc. All rights reserved.

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

The aim of the study is to evaluate clinic and demographic properties, detect bone mineral metabolism problems and raise awareness of these problems of cerebral palsy (CP) patients who are followed up in Çukurova University Pediatric Neurology Department. 102 patients aged 2-18 years who are regularly followed up in Çukurova University Pediatric Neurology Department, between January 2014-January 2015 are involved in this study. Demographic characteristics, etiologies, clinic and laboratory findings and associated problems of these patients are evaluated. Mean age of patients were 96.83 ± 53.54 months (24-207 months), male/female ratio was 1,2. 23.5% of the percents were born term and 50% patients' birth weight was above 2500 gr. Spastic Quadriplegia was the most frequent type (38.2%). Most frequent etiologic factor was natal factors (56.9%). In detailed etiologic evaluation, asphyxia (49%) and low birth weight (28.4%) were most seen. Most frequent cerebral MRI abnormality was periventricular leukomalacia (25%). Other accompanying problems were mental retardation 88.2%, speech problems (72.5%), malnutrition (67.6%), epilepsy (46.4%), visual problems (28.4%). Levels of osteocalcin, IGF-1, IGFBP-3 and PTH were better in patients who were on regular physiotherapy (p 0.05). Enough and correct sun exposure and regular, dynamic physiotherapy may improve bone health. Regular follow-up of neuromotor development in patients with complicated birth and perinatal asphyxia may prevent delayed diagnosis and treatment.

The artificial preparation of endometrium is one of the most important steps in effecting the outcome of frozen-thawed embryo transfer cycles. Estrogen supplementation has been used in different doses and routes for the sufficient endometrial preparation. The aim of this study was to, find out the effect of estrogen administration either orally vs transdermally on pregnancy outcomes. Sixty-four patients were included in this retrospective study. The patients were divided into two groups according to their estrogen administration (Group 1 (n:30): Estrogen supplemented via orally; group 2 (n:34): Estrogen supplemented via transdermally). The primary outcome of this study was to compare the pregnancy and live birth rates of these two groups. The mean ages of the study groups were, 30,26 ± 3,43, and 30,50 ± 5,02 in group 1 and 2, respectively (p:0,819). The mean number of embryo transfers were recorded as; 1,36 ± 0,55 and 1,47 ± 0,61 in group 1 and 2, respectively (p:0,496). The pregnancy rates were 53,3% (n: 16/30) in group 1 and 47,1% (n:16/34) in group 2 (p:0,616). The live birth rates were 40,0% (12/30) in group 1 and 26,5% (9/34) in group 2 (p: 0,250). In conclusion, the endometrial preparation with either oral or transdermal estrogen preparations do not have any significant effect on pregnancy outcomes in frozen-thawed embryo transfer cycles. © Gülhane Askeri Tip Akademisi 2015.

Rekabet ve regülasyona dair kuralların kesişim kümesinde yer alan fiyat sıkıştırmasının önlenmesine yönelik analizler, ilgili literatürde hacmini arttırmaktadır. Bu çalışmanın odağını Türkiye'de Rekabet Kurulu'nun aldığı kararlar ile gündeme gelen ve Bilgi Teknolojileri ve İletişim Kurumu'nun (BTK) yakın geçmişte usul ve esaslarını yayınladığı fiyat sıkıştırması meselesi oluşturmaktadır. Çalışma, rekabet hukuku kuralları çerçevesinde uygulanan fiyat sıkıştırması analizi ile BTK tarafından gerçekleştirilen analiz arasındaki ilişkiye değinmekte ve BTK tarafından uygulanan test hakkında eleştirel bir değerlendirme sunmaktadır.Bu noktada belirtmek isteriz ki, BTK tarafından uygulanan fiyat sıkıştırması testinin temelleri Avrupa Birliği'ne Katılım Öncesi Yardım Aracı (IPA - Instrument for Pre-Accession Assistance) Projeleri kapsamında yürütülen "Elektronik Haberleşme Sektöründe Rekabet Karşıtı Davranışların Önlenmesine İlişkin Teknik Yardım Projesi (EuropeAid/133078/D/SER/TR)" çerçevesinde ortaya konmuştur. Yine BTK tarafından yürütülecek fiyat sıkıştırması testinin hukuki dayanağını oluşturan "Fiyat Sıkıştırmasının Tespitine, Önlenmesine ve Giderilmesine İlişkin Usul ve Esaslar"ın (Usul ve Esaslar) hazırlanmasında bu Proje'nin desteği olmuştur. Proje'de, makalenin yazarları Şahin Ardıyok ve Barış Yüksel aktif rol almışlar ve özellikle fiyat sıkıştırması testi için yasal çerçevenin oluşumuna katkı sağlamışlardır. Şahin Ardıyok, Proje'de Kilit Hukuki Uzman, Barış Yüksel ise Uzman olarak faaliyet göstermiştir. Çalışmamızın temel amaçlarından biri de, Proje kapsamında edinilen tecrübelerin okuyucular ile paylaşılmasıdır. The volume of analyses in the literature concerning the prevention of margin squeeze, which resides in the intersection point of competition law and regulations, has been increasing. This paper focuses on the concept of margin squeeze that became popular through the decisions of the Turkish Competition Authority (TCA) and the Procedures and Principles that has recently been published by the Information and Communication Technologies Authority (ICTA). The paper examines the relation between the margin squeeze analyses that are conducted by the ICTA and the TCA and critically evaluates ICTA’s analysis methods. We would like to note that the foundations of the margin squeeze test that is being applied by the ICTA was formed during the Instrument for Pre-Accession Assistance (IPA) project titled, “Technical Assistance for Prevention of Anti-competitive Behaviors in the Electronic Communications Sector EuropeAid/133078/D/SER/TR)”. The Procedures and Principles Concerning the Finding, Preventing and Remedying of Price Squeeze, which sets the legal basis of the margin squeeze tests to be applied by the ICTA was also prepared during the course of the Project. Şahin Ardıyok and Barış Yüksel actively participated in the Project and they especially helped the creation of the legal framework for the margin squeeze tests. Şahin Ardıyok acted as the Key Legal Expert and Barış Yüksel acted as a Legal Expert in the Project. One of the main purposes of this article is to share our experiences with the readers.

Bu çalışmada, günde ortalama 6,5-7 saat çalıştırılan bir yatay milli santrifüj pompanın işletme karakteristikleri çıkarılmıştır. Yatay milli santrifüj pompanın (sulama uygulamalarında kullanılabilecek özellikte) bir depoya bağlanmasıyla oluşturulan kapalı devre (kendi içinde devir daim yapan) pompa sistemi 180 saat boyunca laboratuar koşullarında çalıştırılmış ve pompanın işletme özelliklerini tanımlamak için işletme karakteristikleri ölçülmüştür. Pompa işletme karakteristiklerinin ölçülmesinde ISO 2548 esas alınmıştır. Ayrıca pompanın işletme karakteristikleri ile çarkta meydana gelen aşınma ve korozyon arasında bağlantı kurulmaya çalışılmıştır. Bu çalışmada bahsedilen durum göz önüne alınmış ve doğal ortam koşulları laboratuar koşullarına taşınarak devir daim ettirilen suya belli oranda kum katılmıştır

Bu çalışmada, günde ortalama 7 saat çalıştırılan bir yatay milli santrifüj pompanın (paslanmaz çelik çarka sahip) işletme karakteristikleri çıkarılmıştır. Yatay milli santrifüj pompanın (sulama uygulamalarında kullanılabilecek özellikte) bir depoya bağlanmasıyla oluşturulan kapalı devre (kendi içinde devir daim yapan) pompa sistemi laboratuar koşullarında 150 saat boyunca çalıştırılmış ve pompanın işletme özelliklerini tanımlamak için işletme karakteristikleri ölçülmüştür. Pompa işletme karakteristiklerinin ölçülmesinde ISO 2548 esas alınmıştır. Ayrıca pompanın işletme karakteristikleri ile çarkta meydana gelen aşınma esas alınarak aşınma-korozyon arasında bağlantı kurulmaya çalışılmıştır