Publications by authors named "Nurguel Isıkay"

Article Synopsis
  • FLVCR1 is a protein involved in transporting essential compounds like heme and choline, with mutations linked to serious developmental disorders and neurodegenerative conditions in humans.
  • Researchers identified 30 patients with biallelic FLVCR1 variants who displayed severe developmental issues, including brain malformations and other complications, paralleling symptoms seen in mouse models and conditions like Diamond-Blackfan anemia (DBA).
  • The findings emphasize that FLVCR1 variants could cause a wide range of health problems, underscoring the need for diverse genetic testing and consideration of animal model data in understanding human genetic disorders.
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Introduction: The vestibular system's contribution to spatial learning and memory abilities may be clarified using the virtual Morris Water Maze Task (vMWMT). This is important because of the connections between the vestibular system and the hippocampus area. However, there is ongoing debate over the role of the vestibular system in developing spatial abilities.

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Objective: To evaluate long-term outcomes of surgical resection for congenital brain tumors (CBTs) in infants under one year of age and to identify factors related to survival.

Methods: Our retrospective study analyzed infants who underwent gross total or subtotal resection (STR) for CBTs between 2001 and 2019. Data were obtained from medical records, including demographics, clinical presentation, diagnosis, tumor characteristics, and presence of hydrocephalus.

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Aim: To examine the clinical characteristics and early rehabilitation results and to investigate the relationship between rehabilitation initiation time and rehabilitation-related outcome measurements in traumatic brain injury (TBI) patients who have early rehabilitation.

Material And Methods: Forty-seven TBI patients who were referred for rehabilitation in the neurosurgery department were enrolled in the study retrospectively. Clinical characteristics and rehabilitation-related outcome measurements including consciousness, functional outcome, daily living activities, functional mobility, and ambulation of all patients were recorded.

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Recent advances in medical imaging, computer vision, 3-dimensional (3D) modeling, and artificial intelligence (AI) integrated technologies paved the way for generating patient-specific, realistic 3D visualization of pathological anatomy in neurosurgical conditions. Immersive surgical simulations through augmented reality (AR), virtual reality (VR), mixed reality (MxR), extended reality (XR), and 3D printing applications further increased their utilization in current surgical practice and training. This narrative review investigates state-of-the-art studies, the limitations of these technologies, and future directions for them in the field of skull base surgery.

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Knowledge of the factors affecting functional outcomes has an important role in the development of the care plan in children with spinal cord tumors. Retrospective study was planned to determine predictors of functional independence in children with spinal cord tumors. Data from 80 children treated for spinal cord tumors over 2001-2020-year period was analyzed.

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Chronic subdural hematomas (CSDH) with isolated psychiatric presentation are rare. In this paper, we report a case of 77-year-old-female patient who had psychotic depression after repetitive head trauma without any neurological symptoms. The brain magnetic resonance imaging revealed an 20 mm subdural hematoma in the right frontoparietal region and a 7 mm subdural hematoma in the left frontal region.

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Primary proteasomopathies have recently emerged as a new class of rare early-onset neurodevelopmental disorders (NDDs) caused by pathogenic variants in the PSMB1, PSMC1, PSMC3, or PSMD12 proteasome genes. Proteasomes are large multi-subunit protein complexes that maintain cellular protein homeostasis by clearing ubiquitin-tagged damaged, misfolded, or unnecessary proteins. In this study, we have identified PSMD11 as an additional proteasome gene in which pathogenic variation is associated with an NDD-causing proteasomopathy.

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Background And Objectives: Chronic subdural hematoma (CSDH) presents significant management challenges in neurosurgical practice, with recurrence being a notable postoperative consideration. This study aimed to evaluate the Relative Cortical Atrophy (RCA) Index as a predictor of recurrence after CSDH surgery.

Methods: A retrospective analysis was conducted on 98 patients who underwent surgical evacuation for unilateral CSDH.

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Purpose: The success and outcomes of repeat endoscopic transsphenoidal surgery (ETS) for residual or recurrent Cushing's disease (CD) are underreported in the literature. This study aims to address this gap by assessing the safety, feasibility, and efficacy of repeat ETS in these patients.

Methods: A retrospective analysis was conducted on 56 patients who underwent a total of 65 repeat ETS performed by a single neurosurgeon between January 2006 and December 2020.

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Objective: Neurosurgical patient-specific 3D models have been shown to facilitate learning, enhance planning skills and improve surgical results. However, there is limited data on the objective validation of these models. Here, we aim to investigate their potential for improving the accuracy of surgical planning process of the neurosurgery residents and their usage as a surgical planning skill assessment tool.

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Purpose: Posterior fossa surgeries for pediatric tumors pose challenges in achieving optimal dural repair and duraplasty is usually required. Autografts, allografts, xenografts, and synthetic substitutes can be used for duraplasty. Autologous cervical fascia can be a safe and reliable graft option for duraplasty after posterior fossa surgeries.

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encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While knockout mice die with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system.

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Purpose: The present study aimed to investigate the effects of α-Klotho and oxidative stress markers on urinary stone disease (USD) and demonstrate their use as biochemical markers in USD.

Methods: Among the 90 individuals included, 30 individuals were healthy controls (Group 1), 30 individuals presented with USD for the first time (Group 2), and 30 individuals demonstrated recurrent USD (Group 3). Serum levels of α-Klotho, vitamin D, malondialdehyde (MDA), total oxidant status, and total antioxidant status were determined using spectrophotometry analysis.

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Glioblastoma is one of the most devastating neoplasms of the central nervous system. This study focused on the development of serum extracellular vesicle (EV)-based glioblastoma tumor marker panels that can be used in a clinic to diagnose glioblastomas and to monitor tumor burden, progression, and regression in response to treatment. RNA sequencing studies were performed using RNA isolated from serum EVs from both patients ( = 85) and control donors ( = 31).

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Decreased quality of life is observed in individuals who fear surgery or experience severe symptoms due to urinary system stone disease (USSD). As a result, some patients seek complementary and alternative medicine (CAM) methods. This research evaluates preoperative CAM usage and its effects on quality of life for patients who experience renal colic (RC) due to USSD.

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Vestibular migraine (VM) is accepted as the most common cause of spontaneous episodic vertigo. In most patients, vestibular symptoms follow migraine headaches that begin earlier in life. The aim of this multicenter retrospective study was to find out the differences between migraine patients without any vestibular symptoms (MwoV) and VM patients and to delineate the specific clinical features associated with VM.

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Article Synopsis
  • Hair microscopy is a quick diagnostic tool that can help identify various diseases affecting hair, especially in pediatric neurology patients with hair shaft disorders.* -
  • The study analyzed 16 children with unique hair issues, revealing conditions like giant axonal neuropathy and Griscelli syndrome through specific hair characteristics identified during microscopic evaluation.* -
  • The findings suggest that incorporating hair examinations into physical and neurological assessments can lead to earlier detection of rare diseases related to abnormal hair conditions.*
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Myokymia is a rare neuromuscular disorder and limb involvement is not common in this disease. To the best of our knowledge, isolated peroneus longus muscle myokymia was not reported before in the literature; and for that reason treatment protocols were not established. Botulinum toxin type A (BoNT-A), which is used in the treatment of a variety of neurologic disorders, was also defined as a treatment option in myokymia.

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The aim of this study was to evaluate the long-term results and to evaluate the validity of the treatment algorithm that can be safely applied in dfrontal sinus fractures. All patients were evaluated in terms of late-term contour deformity and further craniometric analysis for measurement of maximum amount of displacement, fracture surface area (mm) and the maximum angulation of the fracture (degree) were done. 125 patients (101 male, 24 female) with frontal sinus fractures with an average age of 22.

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Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamilial heterogeneity highlight the complexity of the underlying genetic pathogenesis of these developmental anomalies. Family-based genomics by exome sequencing (ES) and rare variant analyses combined with whole-genome array-based comparative genomic hybridization were implemented to investigate 18 families with limb birth defects.

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Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two families with NEDMAS have been reported. We report the clinical and molecular characteristics of three unrelated Turkish families with four NEDMAS patients.

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Objective: To share our clinical experience of 25 years and identify prognostic factors for progression-free and overall survival in pediatric intracranial ependymomas.

Methods: In total, 61 children who were treated between 1995 and 2020 in a single institution were included in the study. Medical records of the patients were retrospectively reviewed to obtain and analyze the following data: patient age at first surgery, sex, presenting symptoms, hydrocephalus and any invasive treatment, anatomic site, extent of resection, pathologic grade, time to progression, and time to death.

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