Publications by authors named "Mustafa Sahin"

Background And Objectives: The middle fossa approaches are tremendously versatile for treating small vestibular schwannomas, selected petroclival meningiomas, midbasilar trunk aneurysms, and lesions of the petrous bone. Our aim was to localize the internal acoustic canal and safely drill the petrous apex with these approaches. This study demonstrates a new method to locate the internal acoustic canal during surgery in the middle fossa.

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The thyroid gland is one of the major regulator organs of hemostasis in the human body, controlling the functioning of numerous systems. Thyroid hormones exert a modulating effect on the cardiovascular system in particular, ensuring optimal functioning within the normal range. Triiodothyronine (T3), as an active form of thyroid hormone, is mainly responsible for this effect via both genomic and nongenomic mechanisms.

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Due to the increase in data rate in mobile communication and the widespread use of mobile internet, electromagnetic communication systems are increasing daily. This situation causes increases in the use of more mobile communication devices and environmental non-ionizing Electromagnetic Field (EMF) levels. The rise of bee deaths and colony losses in beekeeping parallel to the increase of the EMF sources cause the concept of "electromagnetic pollution" to be considered among the reasons.

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Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.

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Social attention is a key aspect of neurodevelopment and is significantly altered in neurodevelopmental genetic syndromes and many individuals with idiopathic autism spectrum disorder (ASD). The primary aim of the present study was to examine the psychometric properties of webcam-collected social attention measurements, including four new specific aspects of social attention, in three genetic syndromes (PTEN Hamartoma Tumor Syndrome-PHTS; Malan Syndrome-NFIX; and SYNGAP1-related disorder-SYNGAP1), a mixed group of other neurodevelopmental genetic syndromes (Other NDGS), and individuals with a range of idiopathic neurodevelopmental disorder (NDD). The secondary aim was to evaluate the construct validity of these social attention measurements, including evaluating known-groups validity across study groups and concurrent validity for separating ASD and non-ASD cases.

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Genetic causes of neurodevelopmental disorders (NDDs) such as epilepsy and autism spectrum disorder are rapidly being uncovered. The genetic risk factors that are responsible for various NDDs fall into many categories, and while some genes such as those involved in synaptic transmission are expected, there are several other classes of genes whose involvement in these disorders is not intuitive. One such group of genes is involved in protein synthesis and degradation, and the balance between these opposing pathways is termed proteostasis.

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Article Synopsis
  • CDKL5 deficiency disorder (CDD) is a rare condition caused by genetic variants in the CDKL5 gene that lead to issues with neuronal development and function, particularly impacting epilepsy.
  • Research using patient-derived induced pluripotent stem cells aimed to understand how these variants affect neurons, showing that while some aspects like neurite length appeared similar to controls, organoid-derived neurons exhibited increased network activity and excitability.
  • The findings suggest that differences in neuronal behavior and gene expression are specific to excitatory cortical neurons, highlighting the potential for developing targeted therapies for CDD by exploring the molecular mechanisms behind early neuronal hyperexcitability.
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Objective: Before commonly used targets such as the Retrogasserian Zone (RGZ) and the Root Entry Zone (REZ) were adopted for the radiosurgical treatment of trigeminal neuralgia (TN), a more anterior target involving the Gasserian ganglion was used. Thanks to advancements in imaging technology, it is now possible to identify and target separate nerve divisions in Meckel's Cave as desired. Although this approach has been mentioned previously, no clinical study has investigated it until now.

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Advances in molecular biology and genetics are increasingly revealing the complex etiology of autism spectrum disorder (ASD). In parallel, a number of biochemical, anatomical, and electrophysiological measures are emerging as potential disease-relevant biomarkers that could inform the diagnosis and clinical management of ASD. Rodent ASD models play a key role in ASD research as essential experimental tools.

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Aim: To examine neurobehavioral findings in three genetic syndromes (PTEN hamartoma tumor syndrome, Malan syndrome [mutations in the NFIX gene], and SYNGAP1-related disorder), a mixed group of other neurodevelopmental genetic syndromes (NDGS), idiopathic neurodevelopmental disorder, and neurotypical control participants.

Method: Using a longitudinal case-control design, caregivers reported neurobehavioral information for 498 participants (PTEN hamartoma tumor syndrome n = 112, Malan syndrome n = 24, SYNGAP1-related disorder n = 47, other NDGS n = 72, idiopathic neurodevelopmental disorder n = 54, neurotypical siblings n = 74, and unrelated neurotypical control participants n = 115) at three timepoints (baseline, and 1-month and 4-month follow-ups) using the online-administered Neurobehavioral Evaluation Tool (NET).

Results: NET scales had good scale and test-retest reliability.

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Objective: The study aimed to assess the impact of postoperative radioactive iodine (RAI) therapy on parathyroid function in patients who underwent total or subtotal thyroidectomy for differentiated thyroid cancer (DTC).

Methods: Data from 150 patients treated with RAI for DTC and 76 patients with low-risk DTC not receiving RAI were retrospectively analyzed. Clinical characteristics, preoperative and 1-month postoperative biochemical parameters, and adjusted calcium, phosphorus, parathyroid hormone (PTH), and 25-hydroxyvitamin D3 (25-OH-D) levels at 3 months, 1 year, 3 years, and 5 years post-RAI (or in the low-risk group) were recorded.

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Aim: To compare the treatment outcomes of surgical and endovascular methods in patients with intracranial aneurysms.

Material And Methods: A total of 1183 patients [722 (61%)] female and 461 [(39%) male] with intracranial aneurysms, including 615 with subarachnoid hemorrhage (SAH) and 568 without hemorrhage, were retrospectively reviewed.

Results: The mean age of patients was 51.

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Article Synopsis
  • The study investigates the relationship between early seizures and intellectual disability in children with tuberous sclerosis complex (TSC), focusing on how timing and frequency of seizures affect development.
  • Researchers analyzed data from 129 TSC patients over 36 months, using machine learning to identify neurodevelopmental subgroups and effective biomarkers for predicting outcomes.
  • Findings indicate that the total number of seizures (accumulated seizure burden) is a stronger predictor of cognitive development at 36 months than the age at which seizures begin, highlighting the importance of seizure management for better developmental outcomes.
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Background: Craniopharyngiomas are rare tumors that originate from the squamous epithelium in Rathke's sac residues. There is a limited body of literature on the effect of using intraoperative magnetic resonance imaging (IO-MRI) in resection of craniopharyngiomas via endoscopic endonasal surgery (EES). The present study aims to assess the outcomes of EES for resection of craniopharyngiomas using IO-MRI.

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Three-dimensional (3D) cerebral cortical organoids are popular in vitro cellular model systems widely used to study human brain development and disease, compared to traditional stem cell-derived methods that use two-dimensional (2D) monolayer cultures. Despite the advancements made in protocol development for cerebral cortical organoid derivation over the past decade, limitations due to biological, mechanistic, and technical variables remain in generating these complex 3D cellular systems. Building from our previously established differentiation system, we have made modifications to our existing 3D cerebral cortical organoid protocol that resolve several of these technical and biological challenges when working with diverse groups of human induced pluripotent stem cell (hiPSC) lines.

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Article Synopsis
  • mTORC1 is a key regulator of cell and tissue growth, responding to various growth signals and influencing physiological processes.
  • Researchers created a genetically modified mouse model (TSC2-5A) that lacks specific phosphorylation sites on TSC2, which are crucial for activating mTORC1 signaling.
  • These TSC2-5A mice are normally developed but have lower body and organ weights, indicating that TSC2 phosphorylation is essential for mTORC1 activation in certain tissues and could help study its regulation in living organisms.
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Background: In recent years, there has been increasing data showing that the risk of acute pancreatitis (AP) is increased in patients using methimazole (MMI). The aim of this population-based study was to investigate the association between drugs used in the treatment of hyperthyroidism (MMI, PTU, propranolol) and the diagnosis of AP.

Material And Methods: The database consisted of more than 85 million citizen records between January 1, 2017 and December 31, 2022.

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Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy.

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On September 27, 2023, the CureSHANK nonprofit foundation sponsored a conference in Boston, Massachusetts, to identify gaps in knowledge surrounding SHANK3-related epilepsy with the goal of determining future research priorities and recommendations. In addition to patient families and members of the CureSHANK community, participants in the conference included a broad cross-section of preclinical and clinical researchers and clinicians with expertise in SHANK3-related epilepsy as well as representatives from the pharmaceutical industry. Here we summarize the outcomes from comprehensive premeeting deliberations and the final conference recommendations, including (1) gaps in knowledge related to clinical science, (2) gaps in knowledge related to preclinical science, and (3) research priorities moving forward.

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Background/aim: Symptoms of COVID-19 may persist for months. One of the persistent symptoms of COVID-19 is fatigue, which reduces functional status. The relationship between fatigue, functional status, and various other factors has received little attention, which this study aims to address.

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Objective: Addiction is a serious spiral where negative events or relationships trigger a craving even when the situation is caused by the addiction in the first place. Nucleus accumbens is identified as an important hub for the neural pathways involved in the addictive behavior. Stimulation of this structure was demonstrated to be beneficial for addiction previously, but radioneuromodulation was never investigated until today.

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Article Synopsis
  • - Phelan-McDermid syndrome (PMS) is a rare genetic disorder linked to the loss of the SHANK3 gene, and while many of its clinical features are known, cardiovascular issues, particularly aortic root dilation (ARD), are less explored.
  • - A study of 59 PMS participants aimed to determine the prevalence of ARD and its potential links to specific genetic variations, particularly focusing on the size of deletions on chromosome 22.
  • - Findings revealed that 14% of participants had ARD, with a statistically significant association between larger chromosome 22 deletions and an increased incidence of ARD, indicating that genetic factors may help identify those at higher risk.
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Incidental parathyroidectomy (IP) is a complication seen at varying rates after thyroid surgery, and its relationship with postoperative hypocalcemia has not been clarified. In this study, our goal was to identify the frequency and risk factors for IP in a large patient cohort and assess its correlation with postoperative hypocalcemia. A total of 4052 patients who underwent thyroid surgery between 2008 and 2020 were reviewed retrospectively.

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Introduction: We aimed to demonstrate the sensitivity of frozen section for patients with adult granulosa cell tumor (AGCT) and analyze the clinico-pathological factors that may be associated with sensitivity.

Material Methods: This is a multicenter study including data of 10 Gynecological Oncology Departments. Frozen-section results of patients who had ovarian AGCT at the final pathology report were retrospectively analyzed.

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Objective: Primary hypophysitis might be challenging to diagnose, and there is a lack of evidence regarding optimal treatment strategies due to rarity of the disease. We aim to investigate the clinical features and compare the outcomes of different management strategies of primary hypophysitis in a large group of patients recruited on a nationwide basis.

Design: A retrospective observational study.

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