Person: SAKAR, MUSTAFA
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SAKAR
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MUSTAFA
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Publication Open Access A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age(SPRINGER, 2020-07) DAĞÇINAR, ADNAN; Eltan, Mehmet; Alavanda, Ceren; Yavas Abali, Zehra; Ergenekon, Pinar; Yalindag Ozturk, Nilufer; Sakar, Mustafa; Dagcinar, Adnan; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Gokdemir, Yasemin; Elcioglu, Huriye Nursel; Guran, Tulay; Bereket, Abdullah; Ata, Pinar; Turan, SerapRaine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS. A 9-month-old male patient on a home-type ventilator was referred for hypophosphatemia. He was born with a weight of 3800 g to non-consanguineous parents. Prenatal ultrasound had demonstrated nasal bone agenesis. A large anterior fontanel, frontal bossing, exophthalmos, hypoplastic nose, high arched palate, low set ears, triangular mouth, and corneal opacification were detected on physical examination. Serial skeletal X-rays revealed diffuse osteosclerosis at birth which was gradually decreased by the age of 5 months with subperiosteal undermineralized bone formation and medullary space of long bone could be distinguishable with bone-within-a-bone appearance. At 9 months of age, hand X-ray revealed cupping of the ulna with loose radial bone margin with minimal fraying and osteopenia. Cranial computed tomography scan showed bilateral periventricular calcification and hydrocephalus in progress. The clinical, laboratory, and radiological examinations were consistent with RS. Molecular analyses revealed a compound heterozygous mutation in FAM20C gene (a known pathogenic mutation, c.1645C > T, p.Arg549Trp; and a novel c.863 + 5 G > C variant). The patient died due to respiratory failure at 17 months of age. This case allowed us to demonstrate natural progression of skeletal features in RS. Furthermore, we have described a novel FAM20C variant causing RS. Previous literature on RS is also reviewed.Publication Open Access Langerhans cell histiocytosis located in the spheno-orbital bone and the pons: Illustrative case(2023-07-01) ÇEKİÇ, EFECAN; KARAGÖZ, AHMET; SAKAR, MUSTAFA; KAÇAR, KADRİYE EBRU; BOZKURT, SÜHEYLA; DAĞÇINAR, ADNAN; ÇEKİÇ E., Karagoz A., SAKAR M., Senay R. E., AKAR K. E., BOZKURT S., DAĞÇINAR A.BACKGROUND This is a case of aggressive Langerhans cell histiocytosis (LCH) with an atypical intracranial location. OBSERVATIONS In this report, the authors present the diagnosis and treatment of a 12-year-old male patient diagnosed with LCH. The patient was admitted to the emergency department with left-sided facial palsy, and a solid lesion with mass effect in the pons was found. A biopsy was performed via suboccipital craniotomy, and the diagnosis was LCH. A chemotherapy regimen was started since the LCH sample was the resistant type. The patient showed improvement in his neurological deficit following treatment. LESSONS This rare localized and aggressive case’s diagnosis process and treatment choices may apply to future cases. https://thejns.org/doi/abs/10.3171/CASE22367.Publication Open Access A new method for quantification of frontal retrusion and complex skull shape in metopic craniosynostosis: a pilot study of a new outcome measure for endoscopic strip craniectomy(2022-06-01) SAÇAK, BÜLENT; ERDOĞAN, ONUR; BAYRİ, YAŞAR; DAĞÇINAR, ADNAN; SAKAR, MUSTAFA; SÖNMEZ, ÖZCAN; SAKAR M., Haidar H., SÖNMEZ Ö., ERDOĞAN O., SAÇAK B., BAYRİ Y., DAĞÇINAR A.OBJECTIVE The objective of this study was to propose a new skull outline–based method to objectively quantify complex 3D skull shapes and frontal and supraorbital retrusion in metopic craniosynostosis using 3D photogrammetry. METHODS A standard section from 3D photogrammetry, which represents the trigonocephalic shape, was used in this study. From the midpoint of the area of this section, half diagonals were calculated to the skull outline at 5° increments in the anterior half of the head. These half diagonals were used to create a sinusoidal curve, and the area under the sinusoidal curve (AUC) was used to represent the mathematical expression of the trigonocephalic head shape. The AUC from 0° to 180° (90° from the midline to each side) was calculated and is referred to as AUC0→180. The AUC from 60° to 120° (30° from the midline to each side) was also calculated and is referred to as AUC60→120. A total of 24 patients who underwent endoscopic strip craniectomy and 13 age- and sex-matched controls were included in the study. The AUC values obtained in patients at different time points and controls were analyzed. RESULTS The mean preoperative AUC60→120 and AUC0→180 in the patients were significantly lower than those in control individuals. The increase in both AUC60→120 and AUC0→180 values is statistically significant at the discontinuation of helmet therapy and at final follow-up. Receiver operating characteristic curve analysis indicated that AUC60→120 is a more accurate classifier than AUC0→180. CONCLUSIONS The proposed method objectively quantifies complex head shape and frontal retrusion in patients with metopic craniosynostosis and provides a quantitative measure for follow-up after surgical treatment. It avoids ionizing radiation exposurePublication Metadata only Pediatrik dev torakolumbosakral araknoid kiste bağlı kord herniasyonu olgusu(2021-10-31) OĞLİN, VOLKAN; BAYRİ, YAŞAR; DAĞÇINAR, ADNAN; ŞİMŞEK, İSMAİL; SAKAR, MUSTAFA; SÖNMEZ, ÖZCAN; Şimşek I., Oğlin V., Sönmez Ö., Sakar M., Bayri Y., Dağçinar A.Araknoid kistler; araknoid membranın altında oluşan selim, neoplazi içermeyen, içi sıvı dolu yapılardır. Bu kistler genellikle insidental olarakgörüntülemeler sırasında saptanır ve belirti vermedikçe tedavi edilmeleri gerekmez. Semptomatik olduklarındaysa; valsalva manevralarıylaartabilen sırt ve bel ağrısı, radiküler ağrı veya kronik miyelopati gibi bulgu ve belirtilere sebep olabilirler (4).Pediatrik yaşta daha sık görülen araknoid kistler, genellikle konjenitaldir (1). Spinal araknoid kistler dahaçok torakal seviyelerde ve vertebranın dorsalinde konumlanırlar. Ortalama üç vertebra uzunluğundadırlar veT3-T6 seviyeleri arasında daha sık görülürler (5). Dev araknoid kistler nadirdir ve bugüne kadar literatürde çokaz sayıda vaka bildirilmiştir (3,6). Çalışmamızdaki amacımız kliniğimizde tedavi edilmiş dev araknoid kist olgusunun yönetimini sunmaktırPublication Metadata only Septal DNET: Nadir bir olgu sunumu(2021-10-31) ÇEKİÇ, EFECAN; YARALI, AHMET TUĞRUL; SAKAR, MUSTAFA; BAYRİ, YAŞAR; DAĞÇINAR, ADNAN; ŞİMŞEK, İSMAİL; Şimşek I., Yılmaz N., Çekiç E., Yarali A. T., Sakar M., Bayri Y., Dağçinar A.Disembriyoplastik nöroepitelyal tümörler sıklıkla çocukluk çağında,dirençli epilepsi ile bulgu veren ve genellikle temporal yerleşimli tümörlerdir.Ekstraaksiyal yerleşimi nadir görülmekte olup daha çok intraventriküler,kaudat ve septum pellucidumda görülür.Septal DNET,DNET in bir varyantı olarak görülse de adölesan yaş grubunda KİBAS bulgularıyla prezente olur.Benign seyirlidir,adjuvan terapi ihtiyacı olmaz.Çalışmamızda hastanemize başvuran böyle bir vakanın takdimini amaçlamaktayız.Publication Metadata only Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31(SPRINGER, 2015) DAĞÇINAR, ADNAN; Bayri, Yasar; Soylemez, Burcak; Seker, Askin; Yuksel, Sirin; Tanrikulu, Bahattin; Unver, Olcay; Canbolat, Cagri; Sakar, Mustafa; Kardag, Ozen; Yakicier, Cengiz; Dagcinar, Adnan; Ziyal, Ibrahim; Bayrakli, FatihMeningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect. We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring. A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus. Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.Publication Open Access Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene(NATURE PUBLISHING GROUP, 2015-12) DAĞÇINAR, ADNAN; Bayrakli, Fatih; Poyrazoglu, Hatice Gamze; Yuksel, Sirin; Yakicier, Cengiz; Erguner, Bekir; Sagiroglu, Mahmut Samil; Yuceturk, Betul; Ozer, Bugra; Doganay, Selim; Tanrikulu, Bahattin; Seker, Askin; Akbulut, Fatih; Ozen, Ali; Per, Huseyin; Kumandas, Sefer; Torun, Yasemin Altuner; Bayri, Yasar; Sakar, Mustafa; Dagcinar, Adnan; Ziyal, IbrahimWe report an association between a new causative gene and spastic paraplegia, which is a genetically heterogeneous disorder. Clinical phenotyping of one consanguineous family followed by combined homozygosity mapping and whole-exome sequencing analysis. Three patients from the same family shared common features of progressive complicated spastic paraplegia. They shared a single homozygous stretch area on chromosome 6. Whole-exome sequencing revealed a homozygous mutation (c.853_871del19) in the gene coding the kinesin light chain 4 protein (KLC4). Meanwhile, the unaffected parents and two siblings were heterozygous and one sibling was homozygous wild type. The 19 bp deletion in exon 6 generates a stop codon and thus a truncated messenger RNA and protein. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.Publication Metadata only Penetrating Craniocerebral Injury by the Hook of a School Desk(KARGER, 2021) DAĞÇINAR, ADNAN; Guvenc, Yahya; Sakar, Mustafa; Niftaliyev, Seymur; Guliyev, Abdulmammad; Simsek, Ismail; Dagcinar, AdnanIntroduction: Although penetrating cranial injuries are rare in pediatric patients, these injuries can lead to morbidity and mortality. Removal of a gigantic foreign body from the cranium requires proper management as it has high risk of further brain damage and seizures. Case Presentation: We report the case of a patient with cranial injury caused by hitting the head to the hook of a school desk. Due to the extreme nature of the injury, the following additional steps were necessary: taking help from a local firefighter team to cut the desk, surgical removal of the foreign body, and cranioplasty after 6 months. Following this, he was discharged without neurological deficits. Discussion/Conclusion: Neurotrauma is one of the major causes of death in children. The damage and effect of the injuring foreign body depends on its size, shape, velocity, trajectory, and entry point. It should be kept in mind that any high-frequency processes applied on the extracranial parts of conductive objects, such as metal bars, may trigger seizures. Preoperative extracranial intervention for huge penetrating foreign bodies should be performed under anticonvulsant administration and intubation to decrease the risk of epileptic seizures and its complications.Publication Metadata only Pedi̇atri̇k torakolomber travmalar(Türk Nöroşirurji Derneği Yayınları 25, 2021-01-01) GÜVENÇ, YAHYA; SAKAR, MUSTAFA; ŞİMŞEK, İSMAİL; DAĞÇINAR, ADNAN; GÜVENÇ Y., SAKAR M., ŞİMŞEK İ., DAĞÇINAR A.Publication Metadata only Modified endoscopic strip craniectomy technique for sagittal craniosynostosis: provides comparable results and avoids bony defects(SPRINGER, 2022) DAĞÇINAR, ADNAN; Sakar, Mustafa; Cevik, Serdar; Isik, Semra; Haidar, Hassan; Sahin, Yener; Sacak, Bulent; Bayri, Yasar; Dagcinar, AdnanPurpose This study describes a modified technique addressing bony defects and incomplete ossification after endoscopic strip craniectomy (ESC) for SC followed by postoperative helmet therapy (PHT). The study aims to delineate quantitative and qualitative outcomes of this modified ESC technique followed by PHT and discern the optimal duration of PHT following ESC. A secondary aim is to address the effects of the technique on bony defects. Methods Patients undergoing ESC followed by PHT between 2017 and 2021 were included. Patient sex, age at surgery, duration of surgery, red blood cell transfusion, length of hospital stay, PHT duration, cephalic index (CI) at multiple time points, and bony defect information were collected. Descriptive and correlative analysis was done. Results Thirty-one patients (25 male, 6 female) were operated in study period. Mean age at surgery was 12.81 weeks, mean duration of surgery was 57.50 min, average transfused RBC volume was 32 cc, mean length of hospital stay was 1.84 days, mean PHT duration was 33.16 weeks, and mean follow-up time was 63.42 weeks. Mean preoperative CI was 70.6, and mean CI at the end of PHT was significantly higher, being 77.1. Maximum improvement in CI (CImax) took place at week 22.97. PHT duration did not have a correlation with CI at last follow up. There were no bony defects. Conclusion Modified ESC technique is effective in successful correction of sagittal craniosynostosis. CImax already takes place, while PHT is continuing, but there is no certain time point for dishelmeting. The technique avoided bony defects and incomplete ossification.