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  1. Article ; Online: Factors that may increase the risk of external apical root resorption during orthodontic treatment : Retrospective clinical investigation.

    Kaya, Burçak / Gülşahı, Ayşe / Türkyılmaz, Gizem

    Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie

    2023  

    Abstract: Purpose: To determine the correlation between external apical root resorption and malocclusion-related variables in patients treated with fixed orthodontic appliances.: Methods: In all, 103 patients aged 12-15 years and treated with edge-wise ... ...

    Title translation Faktoren, die das Risiko für eine externe apikale Wurzelresorption während einer kieferorthopädischen Behandlung erhöhen können : Eine retrospektive klinische Untersuchung.
    Abstract Purpose: To determine the correlation between external apical root resorption and malocclusion-related variables in patients treated with fixed orthodontic appliances.
    Methods: In all, 103 patients aged 12-15 years and treated with edge-wise appliances either without extractions or with four premolar extractions were included in this retrospective cohort study. External apical root resorption was assessed in the pre- and posttreatment panoramic radiographs of these patients for incisors, canines, premolars, and first molars. A total of 2332 teeth were evaluated in 206 panoramic radiographs obtained from 103 patients. The gender of the patients, duration of orthodontic treatments, presence of premolar extractions, Angle classification, overbite, overjet and amount of crowding were assessed. Wilcoxon signed-rank test, Mann-Whitney U test, and Kruskal-Wallis test were used for statistical analysis of the data.
    Results: Statistically significant (p < 0.001) root resorption occurred in all examined teeth during orthodontic treatment. The degree of root resorption observed in the premolars was significantly greater in premolar extraction cases than in nonextraction cases. Statistically significant negative correlations were found between the degree of root resorption of the maxillary lateral teeth and between the maxillary first premolar teeth and the amount of maxillary crowding.
    Conclusions: The orthodontic treatment protocols and the amount of tooth movements achieved were shown to be dependent on the severity of dental malocclusions and they have an influence on the amount of external apical root resorption that occurs during the course of orthodontic treatment.
    Language English
    Publishing date 2023-06-27
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1309470-1
    ISSN 1615-6714 ; 0015-816X ; 1434-5293
    ISSN (online) 1615-6714
    ISSN 0015-816X ; 1434-5293
    DOI 10.1007/s00056-023-00485-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

    Kartal Baykan, Emine / Türkyılmaz, Ayberk

    Journal of clinical research in pediatric endocrinology

    2021  Volume 14, Issue 3, Page(s) 350–355

    Abstract: Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated ... ...

    Abstract Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated insulin-like growth factor 1 levels, and is characterised by somatic overgrowth and physical disfigurement, notably affecting hands and feet. We present two cases referred with an initial diagnosis of acromegaly that were ultimately diagnosed as PDP. Case 1: A 17 year-old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening of facial skin lines and forehead skin, and excessive sweating which increased gradually over five years. There were prominent skin folds on the forehead, face, and eyelids. Also, there was an enlargement in both hands and clubbing of the fingers. There was marked swelling in the knee joints and ankles. Genetic analysis revealed a novel homozygous variant NM_005630: c.31C>T (p.Q11*) in the
    MeSH term(s) Acromegaly/diagnosis ; Adolescent ; Diagnosis, Differential ; Human Growth Hormone ; Humans ; Male ; Organic Anion Transporters/genetics ; Osteoarthropathy, Primary Hypertrophic/diagnosis ; Osteoarthropathy, Primary Hypertrophic/genetics ; Pain/diagnosis ; Turkey
    Chemical Substances Organic Anion Transporters ; SLCO2A1 protein, human ; Human Growth Hormone (12629-01-5)
    Language English
    Publishing date 2021-05-24
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 2641608-6
    ISSN 1308-5735 ; 1308-5727
    ISSN (online) 1308-5735
    ISSN 1308-5727
    DOI 10.4274/jcrpe.galenos.2021.2020.0301
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  3. Article: Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the

    Türkyılmaz, Ayberk / Sager, Safiye Gunes

    Molecular syndromology

    2021  Volume 13, Issue 1, Page(s) 56–63

    Abstract: Autosomal recessive primary microcephaly (MCPH) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 SD. MCPH is a group of diseases with genetic heterogeneity and ... ...

    Abstract Autosomal recessive primary microcephaly (MCPH) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 SD. MCPH is a group of diseases with genetic heterogeneity and has been reported by the Online Mendelian Inheritance In Man® (OMIM) database and associated with 25 different genes. It is known that MCPH cases are most frequently associated with abnormal spindle-like, microcephaly-associated (
    Language English
    Publishing date 2021-09-15
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2546218-0
    ISSN 1661-8777 ; 1661-8769
    ISSN (online) 1661-8777
    ISSN 1661-8769
    DOI 10.1159/000516201
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  4. Article ; Online: Triglyceride-glucose index for predicting in-stent restenosis in patients with iliac artery stenosis after percutaneous intervention with stents.

    Turkyilmaz, S / Toz, H / Turkyilmaz, G / Kuserli, Y / Kavala, A A

    European review for medical and pharmacological sciences

    2024  Volume 28, Issue 3, Page(s) 1015–1026

    Abstract: Objective: To evaluate the triglyceride-glucose index (TyG index) for predicting in-stent restenosis in patients with iliac artery stenosis after percutaneous intervention with stents.: Patients and methods: Subjects with iliac artery stenosis, who ... ...

    Abstract Objective: To evaluate the triglyceride-glucose index (TyG index) for predicting in-stent restenosis in patients with iliac artery stenosis after percutaneous intervention with stents.
    Patients and methods: Subjects with iliac artery stenosis, who underwent an iliac stent intervention and were followed up for at least 2 years were included in the study. Subjects were grouped according to TyG index (Group A, TyG index ≤8.848; Group B 8.849 ≤TyG index ≤9.382 and Group C TyG index ≥9.383). The subject's baseline characteristics, blood parameters, claudication distance, Transatlantic Intersociety Consensus classification, target lesion localization, stent direction, number of stents that were applied, and stent type were noted. Pre- and 1st and 2nd-year post-procedure Rutherford statuses, ankle-brachial index, and stenosis degree were recorded. To calculate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), Group B and Group C were combined and compared with Group A.
    Results: In total, 255 subjects were evaluated (female, n=77-30.2%, male, n=178-69.8%). The mean age of the subjects was 66.00±10.00 years (range from 39 to 90 years). The pre-procedure Rutherford measurements were significantly different among the groups (p=0.001). The rates of mild claudication and resting pain in Group A were higher than those in Groups B and C. The rate of moderate claudication in Group C was higher than that in Groups A and B. The rate of severe claudication in Group B was higher than that in Groups A and C. One year after the procedure, there were more asymptomatic cases in Group A than in Groups B and C (p=0.001). The rate of mild claudication in Group C was lower than that in Groups A and B. The rate of moderate claudication in Group C was higher than that in Group A. The rate of severe claudication in Group C was higher than that in Groups A and B. Two years after the procedure, the Rutherford measurements and the rates of mild claudication in Groups A and B were higher than those in Group C. The rate of severe claudication in Group C was higher than that in Groups A and B (p=0.001). One year after the procedure, the computed tomography angiography (CTA) measurements and the rate of full patency in Group A were higher than that in Groups B and C. The rate of 0-50% stenosis in Group B was higher than that in Groups A and C. The rate of 50-70% stenosis in Group C was higher than that in Group A. Two years after the procedure, the CTA measurements and the rates of 70-99% stenosis and 100% occlusion in Group C were higher than those in Groups A and B. The TyG index has high specificity and NPV. However, specificity and PPV levels were found to be quite low.
    Conclusions: The TyG index was found to be an easy-to-use marker for predicting in-stent restenosis in patients with iliac artery stenosis after percutaneous intervention with stents.
    MeSH term(s) Humans ; Male ; Female ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Constriction, Pathologic/etiology ; Glucose ; Iliac Artery/diagnostic imaging ; Coronary Restenosis/etiology ; Angioplasty, Balloon/adverse effects ; Treatment Outcome ; Vascular Patency ; Peripheral Arterial Disease ; Intermittent Claudication/diagnosis ; Intermittent Claudication/therapy ; Intermittent Claudication/etiology ; Stents/adverse effects
    Chemical Substances Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2024-02-20
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 605550-3
    ISSN 2284-0729 ; 1128-3602 ; 0392-291X
    ISSN (online) 2284-0729
    ISSN 1128-3602 ; 0392-291X
    DOI 10.26355/eurrev_202402_35337
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Reference intervals in extended new red blood cell parameters based on gestational age on the first day of newborns.

    Çomruk, Aslıhan / Kaya, Zühre / Kirkiz Kayalı, Serap / Koçak, Ülker / Türkyılmaz, Canan / Koç, Esin

    International journal of laboratory hematology

    2024  

    Language English
    Publishing date 2024-03-30
    Publishing country England
    Document type Letter
    ZDB-ID 2268590-X
    ISSN 1751-553X ; 1751-5521 ; 0141-9854
    ISSN (online) 1751-553X
    ISSN 1751-5521 ; 0141-9854
    DOI 10.1111/ijlh.14279
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  6. Article ; Online: The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.

    Yılmaz, Mustafa / Kamaşak, Tülay / Teralı, Kerem / Çebi, Alper Han / Türkyılmaz, Ayberk

    American journal of medical genetics. Part A

    2024  Volume 194, Issue 5, Page(s) e63535

    Abstract: ABH8, the protein encoded by the ALKBH8 gene, modifies tRNAs by methylating their anticodon wobble uridine residues. The variations in the ALKBH8 gene are associated with the "intellectual developmental disorder, autosomal recessive type 71" (MIM: 618504) ...

    Abstract ABH8, the protein encoded by the ALKBH8 gene, modifies tRNAs by methylating their anticodon wobble uridine residues. The variations in the ALKBH8 gene are associated with the "intellectual developmental disorder, autosomal recessive type 71" (MIM: 618504) phenotype in the OMIM database. This phenotype is characterized by global developmental delay, facial dysmorphic features, and psychiatric problems. To date, 12 patients from five distinct families carrying variants of the ALKBH8 gene have been reported in the literature. In the present study, we report the first Turkish family harboring a novel homozygous missense variant, NM_138775.3:c.1874G > C (p.Arg625Pro), in the last exon of the ALKBH8 gene. Two affected siblings in this family showed signs of global developmental delay and intellectual disability. Based on the dysmorphological assessment of the cases, fifth finger clinodactyly and fetal fingertip pads were prominent, in addition to the dysmorphic findings similar to those reported in previous studies. Minor dysmorphic limb anomalies in relation to this phenotype have not yet been previously reported in the literature. Our computational studies revealed the potential deleterious effects of the Arg-to-Pro substitution on the structure and stability of the ABH8 methyltransferase domain. In the present report, the first Turkish family with an ultrarare disease associated with the ALKBH8 gene was reported, and a novel deleterious variant in the ALKBH8 gene and additional clinical features that were not reported with this condition have been reported.
    MeSH term(s) Humans ; AlkB Homolog 8, tRNA Methyltransferase/genetics ; Developmental Disabilities/genetics ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Mutation, Missense/genetics ; Phenotype ; RNA, Transfer/genetics
    Chemical Substances AlkB Homolog 8, tRNA Methyltransferase (EC 1.14.11.-) ; ALKBH8 protein, human (EC 1.14.11.-) ; RNA, Transfer (9014-25-9)
    Language English
    Publishing date 2024-01-08
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63535
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  7. Article: Extended resections in the treatment of locally advanced lung cancer.

    Topaloğlu, Ömer / Türkyılmaz, Atila / Karapolat, Sami / Buran, Alaaddin / Tekinbaş, Celal

    Turk gogus kalp damar cerrahisi dergisi

    2023  Volume 31, Issue 4, Page(s) 538–546

    Abstract: Background: This study aims to evaluate surgical outcomes and prognosis in patients who underwent extended lung resection for locally advanced lung cancer.: Methods: Between January 2015 and December 2019, a total of 61 patients (60 males, 1 female; ... ...

    Abstract Background: This study aims to evaluate surgical outcomes and prognosis in patients who underwent extended lung resection for locally advanced lung cancer.
    Methods: Between January 2015 and December 2019, a total of 61 patients (60 males, 1 female; mean age: 61.7±12.2 years; range, 32 to 90 years) with locally advanced non-small-cell lung cancer who underwent extended lung resection were retrospectively analyzed. Data including age, sex, comorbid diseases, symptoms, smoking status, pulmonary function test results, tumor location, methods used for preoperative tissue diagnosis, histopathological cell type, type of surgical resection, pathological stage, nodal involvement, postoperative complications, types of adjuvant therapy, and mortality rate were recorded. Survival and the factors affecting survival were examined.
    Results: Seven (11.4%) patients had Stage IIIB, 40 (65.5%) patients had Stage IIIA, and 14 (22.9%) patients had Stage IB disease. Intrapericardial pneumonectomy accounted for 30 (49.1%) of all extended lung resections. Chemotherapy was administered to 31 (50.8%) patients and chemoradiotherapy to 24 (39.3%) patients in the postoperative period. In the survival analysis, 70-month survival rate was calculated as 63.9% and the median survival was 48 months. There was a statistically significant association between survival with adjuvant chemotherapy and chemoradiotherapy (p=0.003). The mortality rate at 70 months of follow-up was 36.1%.
    Conclusion: Extended lung resection contributes significantly to the improvement of survival rates in carefully selected locally advanced cases. Particularly with adjuvant chemotherapy, local recurrences can be prevented, and survival rates can be improved.
    Language English
    Publishing date 2023-10-19
    Publishing country Turkey
    Document type Journal Article
    ISSN 1301-5680
    ISSN 1301-5680
    DOI 10.5606/tgkdc.dergisi.2023.24788
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  8. Article: A rare case of esophageal foreign bodies.

    Topaloğlu, Ömer / Akdoğan, Ali / Karapolat, Sami / Türkyılmaz, Atila

    Turk gogus kalp damar cerrahisi dergisi

    2022  Volume 30, Issue 1, Page(s) 136–137

    Language English
    Publishing date 2022-01-28
    Publishing country Turkey
    Document type Journal Article
    ISSN 1301-5680
    ISSN 1301-5680
    DOI 10.5606/tgkdc.dergisi.2022.21596
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  9. Article ; Online: Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.

    Teralı, Kerem / Türkyılmaz, Ayberk / Sağer, Safiye Güneş / Çebi, Alper Han

    Clinical and translational science

    2023  Volume 17, Issue 1, Page(s) e13679

    Abstract: Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore-forming α-subunit of the ... ...

    Abstract Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore-forming α-subunit of the Na
    MeSH term(s) Humans ; Epilepsies, Myoclonic/genetics ; NAV1.1 Voltage-Gated Sodium Channel/genetics ; Epileptic Syndromes/genetics ; Epilepsy/genetics ; Phenotype ; Mutation, Missense ; Mutation
    Chemical Substances NAV1.1 Voltage-Gated Sodium Channel ; SCN1A protein, human
    Language English
    Publishing date 2023-12-06
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2433157-0
    ISSN 1752-8062 ; 1752-8054
    ISSN (online) 1752-8062
    ISSN 1752-8054
    DOI 10.1111/cts.13679
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  10. Article ; Online: Anatomical limiting factors to foreskin reconstruction at the hypospadias repair.

    Atan, Ali / Karabulut, Ramazan / Turkyilmaz, Zafer / Sonmez, Kaan

    Journal of pediatric urology

    2024  

    Language English
    Publishing date 2024-02-27
    Publishing country England
    Document type Letter
    ZDB-ID 2237683-5
    ISSN 1873-4898 ; 1477-5131
    ISSN (online) 1873-4898
    ISSN 1477-5131
    DOI 10.1016/j.jpurol.2024.02.018
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