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Permanent URI for this collectionhttps://hdl.handle.net/20.500.14288/3
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Publication Metadata only Neurocognitive impairment in patients with ataxia telangiectasia and their unaffected parents: is it similar?(Elsevier Inc., 2024) Uyar, Emel; Usanmaz, Sevil; Kiykim, Ayca; Tufan, Ali Evren; Alibas, Hande; Aydiner, Omer; Somer, Ayper; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Aktürk, Hacer; ; School of Medicine;Background: Ataxia telangiectasia (AT) is a genetic multisystemic disorder affecting the nervous system. Data on neurocognitive functioning in AT are limited and focused on patients at various stages of disease. Because of the genetic nature of the disorder, parents of patients may also display subtle neurological problems. This study aimed to evaluate neurocognitive functioning in patients with AT and their unaffected parents. Methods: The study included 26 patients with AT and 41 parents among which 13 patients and 18 parents were evaluated with neurocognitive tests. Clinical and radiological data were reviewed retrospectively. Data were analyzed with descriptive statistics. Results: The median ages of patients and parents were 12.5 years (interquartile range [IQR] = 9.5) and 38.0 years (IQR = 12.0), respectively. Median intelligence quotients were 62.0 (IQR = 21.3) and 82.5 (IQR = 16.8), respectively, for patients and parents. Rates of intellectual disability for patients and parents were 100.0% and 83.3%, respectively. Areas of impairment in patients in decreasing order of frequency were motor skills, visual perception/memory, visual-manual coordination, spontaneous/focused and sustained attention (100.0% for each), social judgment, as well as vocabulary and arithmetic skills (75.0% for each). Areas of impairment in unaffected parents in decreasing order of frequency were visualmanual coordination (77.8%), working memory (76.5%), and visual perception and motor skills (66.7% for each). Conclusion: Intellectual disabilities, visual-spatial disabilities, and reduced visual-motor coordination seem to be similar in patients with AT and their parents. These results should be replicated with larger samples from multiple centers and may form putative cognitive endophenotypes for the disorder. (c) 2024 Elsevier Inc. All rights reserved.Publication Metadata only Effect of ultrasound-guided rhomboid interfascial plane block on pain severity, disability, and quality of life in myofascial pain syndrome - a case series with one-year follow-up(American Society of Interventional Pain Physicians, 2023) ; Taşkıran, Özden Özyemişçi; Albayrak, Havvanur; Topaloğlu, Mahir; Manici, Mete; Ketenci, Ayşegül; Gürkan, Yavuz; ; School of Medicine; Koç University HospitalBackground: Myofascial pain syndrome (MPS) is a condition characterized by trigger points in the taut bands of skeletal muscles, commonly affecting the trapezius, rhomboid, and supraspinatus muscles. Rhomboid intercostal block (RIB), an interfascial plane block used to assist perioperative analgesia might be a potential treatment option in MPS. Objectives: To investigate the short and long-term effects of ultrasound-guided RIB in reducing the severity of pain, disability, and improving quality of life in MPS patients with trigger points in the rhomboid muscle. Study Design: Retrospective study. Setting: Physical medicine and rehabilitation outpatient clinic in a university hospital. Methods: Patients with a diagnosis of MPS who received ultrasound (US)-guided RIB between November 2021 and January 2022 were enrolled in this study. All patients reported pain lasting ≥ 3 months and severity ≥ 4/10 on numeric rating scale (NRS), without any comorbidities affecting the neuromuscular system. Trigger points in the rhomboid muscle were treated with US-guided RIB. Pain intensity was evaluated using a NRS at pre-treatment and one week, one month and one year after the injection. At pre-treatment, one month, and one year after treatment, self-administered neck pain and disability scale and Nottingham Health Profile were evaluated. Results: A total of 23 patients were included in this study (5 men and 18 women, with an average age of 45). Pain severity was statistically significantly reduced in approximately 90%, 60-70%, and 50% of the chronic MPS patients at the first week, first month, and first year following injection, respectively. Disability scores improved significantly in 70% and 56% of those patients at the first month and first-year follow-up. Improvement in the quality of life was observed at the first month and maintained at the first-year follow-up. Limitations: The retrospective design of this study is a limitation. Due to the lack of a control group, this treatment option could not be compared with other treatments. Conclusions: Our study demonstrated that RIB might be an effective long-term treatment option for MPS in the reduction of pain and disability, improvement of quality of life and overall patient satisfaction. © 2023, American Society of Interventional Pain Physicians. All rights reserved.Publication Metadata only Expansion of the subcutaneous compartment by umbilicus resection for intrathecal pump placement: the "Karagoz-Hacivat technique"(Lippincott Williams and Wilkins, 2024) Isler C.; Cerci HM; Aydin YS; Toklu S; Hanci MM; Bağhaki, Semih; ; ; Koç University HospitalBACKGROUND AND OBJECTIVES:Intrathecal baclofen (ITB) for severe spasticity can encounter complications such as wound dehiscence and ulcers because of elevated intracompartmental pressure within the abdominal subcutaneous and subfascial pocket housing the pump. We propose an innovative technique to manage ITB wound ulcers.METHODS:Resecting the umbilicus create a more spacious and less tension-prone pocket for the ITB pump.RESULTS:Between 2015 and 2023, we implanted ITB pumps in 65 patients. Among them, 5 patients presented with skin ulcer or dehiscence underwent surgery using the novel technique. Postoperative follow-up revealed successful wound healing, with no further wound-related complications.CONCLUSION:The proposed technique provides effective and practical solution to wound and skin complications related to ITB pump. Moreover, it may serve as a viable preemptive strategy during the initial implantation of the ITB pump in selected patients.Publication Metadata only Correction to: Microsurgical anatomy of the isthmic cingulum: a new white matter crossroad and neurosurgical implications in the posteromedial interhemispheric approaches and the glioma invasion patterns(Springer, 2023) Saygi, Tahsin; Avyasov, Rashid; Barut, Ozan; Daglar, Zeynep; Hasimoglu, Ozan; Altinkaya, Ayca; Tanriover, Necmettin; Baran, Oğuz; ; School of Medicine;The authors regret that references and reference citations that appears in the original article are incorrect due to the inadvertent omission of two already listed References within the main text of the original article. The original article has been corrected. © 2023, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.Publication Metadata only Comparative analysis of autophagy in drug responses and aggressive behavior of adult versus pediatric glioma cell lines(Oxford Univ Press Inc, 2023) ; Yenidoğan, İrem; ; School of Medicine;Abstract Central nervous system tumors are the most common solid cancer and a leading cause of cancer-related deaths in children. Glioma is the most challenging pediatric CNS tumor with therapy resistance and poor prognosis in pediatric patients. Although histopathological analyses revealed similarities with adult brain glioma, emerging evidence suggests that the deregulated molecular pathways in pediatric glioma (p-GM) are different from that of adults. Autophagy, a cellular clearance system and a drug resistance mechanism, has been implicated in glioma progression, invasion, and relapse, yet its role in pediatric patients is not well documented. In this study, we compared the autophagic capacity of adult versus p-GM cell lines and evaluated the effect of autophagy manipulation on drug responses. In addition, migration, extracellular matrix invasion ability, and the metabolism of pediatric and adult gliomas were compared and the contribution of autophagy to the aggressive phenotype was evaluated.Publication Metadata only 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials(Elsevier B.V., 2023) Montagnese F, de Valle K, Lemmers RJLF, Mul K, Dumonceaux J, Voermans N; 268th ENMC workshop participants.; Oflazer, Piraye; ; School of Medicine;Highlights This ENMC workshop has seen the participation of many important stakeholders working together to improve trial readiness in FSHD: patients and patients’ organizations (FSHD-Europe, FSHD-Society and FSHD Global), neuromuscular clinicians, geneticists, basic researchers, representatives of the TREAT-NMD network, the FSHD-CTRN and EMA. COMs represent useful tools for the standardized collection of clinical features but need to be selected to match the clinical setting of use. For patient care, they need to be informative, with practical and time efficient utility so as not to detract from clinical care. For clinical trial purposes, the need to be reliable, valid, meaningful and sensitive to change to better depict therapeutic responses. An optimized clinical evaluation and genetic test form is one of the goals of WG1 and 2. A diagnostic flowchart for FSHD1 and FSHD2 has been proposed. Another important unmet need for clinical trial readiness in FSHD is the identification of good therapeutic biomarkers, which ideally should be quantitative, non-invasive, applicable across the entire range of disease severity, sensitive to change, reliable and clinically meaningful. The WG 3 will produce standard operating procedures (SOPs) for DUX4 detection. Similarly, large differences in the reporting of studies performed on animal models, thus hindering interpretation, repeatability and comparison of the results need to be addressed. Guidelines regarding minimum information for publication of work including animal models for FSHD will therefore be published.Publication Metadata only Spontaneous intracranial hypotension;Exploring the viability of non-contrast FLAIR as a substitute for contrast-enhanced T1WI in assessing pachymeningeal thickening(Springer, 2024) Benlice, Tahsin; Guzelbey, Tevfik; Yılmaz, Mehmed Fatih; Ozbey, Oner; Ozdemir, Merve Sam; Balsak, Serdar; Ozkiziltan, Uluc; Altunkaynak, Yavuz; Kilickesmez, Ozgur; Kocak, Burak; Yüzkan, Sabahattin; ; ; Koç University HospitalPurposeTo avoid contrast administration in spontaneous intracranial hypotension (SIH), some studies suggest accepting diffuse pachymeningeal hyperintensity (DPMH) on non-contrast fluid-attenuated inversion recovery (FLAIR) as an equivalent sign to diffuse pachymeningeal enhancement (DPME) on contrast-enhanced T1WI (T1ce), despite lacking thorough performance metrics. This study aimed to comprehensively explore its feasibility.MethodsIn this single-center retrospective study, between April 2021 and November 2023, brain MRI examinations of 43 patients clinically diagnosed with SIH were assessed using 1.5 and 3.0 Tesla MRI scanners. Two radiologists independently assessed the presence or absence of DPMH on FLAIR and DPME on T1ce, with T1ce serving as a gold-standard for pachymeningeal thickening. The contribution of the subdural fluid collections to DPMH was investigated with quantitative measurements. Using Cohen's kappa statistics, interobserver agreement was assessed.ResultsIn 39 out of 43 patients (90.7%), pachymeningeal thickening was observed on T1ce. FLAIR sequence produced an accuracy, sensitivity, specificity, positive predictive value, and negative predictive value of 72.1%, 71.8%, 75.0%, 96.6%, and 21.4% respectively, for determining pachymeningeal thickening. FLAIR identified pachymeningeal thickening in 28 cases; however, among these, 21 cases (75%) revealed that the pachymeningeal hyperintense signal was influenced by subdural fluid collections. False-negative rate for FLAIR was 28.2% (11/39).ConclusionThe lack of complete correlation between FLAIR and T1ce in identifying pachymeningeal thickening highlights the need for caution in removing contrast agent administration from the MRI protocol of SIH patients, as it reveals a major criterion (i.e., pachymeningeal enhancement) of Bern score.Publication Metadata only The clinical and genetic characteristics of 17 cases with congenital myasthenic syndrome: data from a single center (P2-8.002)(Lippincott Williams and Wilkins, 2023) ; Yunisova, Gulshan; Akçay, Ayfer Arduç; Avcı, Şahin; Eraslan, Serpil; Kayserili, Hülya; Oflazer, Piraye; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University HospitalObjective: The aim of this study to investigate the clinical and genetic features of patients with Congenital Myasthenic Syndrome (CMS) in Muscle Disease Center, Koç University Hospital, Turkey. Background: CMS is a group of hereditary disorders of impaired neuromuscular transmission characterized by fatigable muscle weakness. Design/Methods: Herein, we present the characteristics of 17 patients from 14 unrelated families. Results: The mean age (3 male, 14 female) was 18.4+13.6, the onset age ranged between the first day and the first 3 months of life in 11 cases, and 1 and 16 years in 6 patients. The most common complaints at the first 3 months were ptosis (6/11), feeding difficulty (7/11), difficulty in breathing (3/11). After the first age of life, walking late (2/6) and fatigue triggered by movement (6/6) were common. CHRNE (homozygous [c.1219+2T>G]; [c.199 G>T]; and novel [c.452_454delAGG]; heterozygous [c.1220-8+8dup and c.1327–1327delG]; [ c. .1327delG and c803-2AA and c.408+5G>A]; homozygous [c.686-2A>G]; [c.44C>T, p.]) (3 patients) and CHAT ([c.1669G>A]) (1 patient): All were ambulatory and had good response to pyridostigmine. COLQ (homozygous [14–15 exons] deletion and c.44G>A,) (3 patients ): Two siblings worsened under pyridostigmine, and had a marked response to salbutamol. The other one benefited from 3,4-diaminopyridine. AchR epsilon subunit (combined heterozygous [L240I and C302Y]) (1 patient):, She showed respiratory distress and markedly response to pyridostigmine. AGRN (novel,homozygous [c.5387G>A and C4217 A>C]) (1 Patient). She had fatigue and worsened with pyridostigmine and had a dramatic response from salbutamol. Conclusions: In our study, similar to many studies, the most common findings were ocular and bulbar symptoms, and the most common genetic disorder was postsynaptic (65%) conduction defects. Disclosure: Dr. Yunisova has nothing to disclose. Dr. ARDUC AKCAY has nothing to disclose. Dr. Avci has nothing to disclose. The institution of Dr. Eraslan has received research support from THE SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY. Prof. Kayserili has received research support from TUBITAK . Prof. Kayserili has received personal compensation in the range of $500-$4,999 for serving as a Projecct PI, advisor, researccher with TUBITAK . Prof. University has nothing to disclose.Publication Metadata only Risk of new tumor, carotid stenosis, and stroke after stereotactic radiosurgery for pituitary tumor: a multicenter study of 2254 patients with imaging follow-up(Oxford Univ Press, 2024) Dumot, C.; Mantziaris, G.; Dayawansa, S.; Brantley, C.; Lee, C. C.; Yang, H. C.; Mathieu, D.; Tourigny, J. N.; Moreno, N. M.; Álvarez, R. M.; Chytka, T.; Liscák, R.; Speckter, H.; Lazo, E.; Brito, A.; Picozzi, P.; Franzini, A.; Alzate, J.; Mashiach, E.; Bernstein, K.; Kondziolka, D.; Tripathi, M.; Bowden, G. N.; Warnick, R. E.; Sheehan, D.; Sheehan, K.; Fuentes, A.; Jane, J. A. Jr.; Lee Vance, M.; Sheehan, J. P.; Peker, Selçuk; Samancı, Mustafa Yavuz; ; School of Medicine;Background A higher risk of secondary brain tumor, carotid stenosis, and stroke has been reported after conventional sella irradiation for pituitary neuroendocrine tumors (PitNET). Stereotactic radiosurgery (SRS), which is a more focused approach, is now increasingly used instead. The aim was to assess the risk of secondary brain tumor, carotid stenosis/occlusion, and stroke after SRS. Methods In this multicentric retrospective study, 2254 patients with PitNET were studied, 1377 in the exposed group, and 877 in the control group. Results There were 9840.1 patient-years at risk for the SRS and 5266.5 for the control group. The 15-year cumulative probability of secondary intracranial tumor was 2.3% (95% CI: 0.5%, 4.1%) for SRS and 3.7% (95% CI: 0%, 8.7%) for the control group (P = .6), with an incidence rate of 1.32 per 1000 and 0.95 per 1000, respectively. SRS was not associated with an increased risk of tumorigenesis when stratified by age (HR: 1.59 [95% CI: 0.57, 4.47], Pp = .38). The 15-year probability of new carotid stenosis/occlusion was 0.9% (95% CI: 0.2, 1.6) in the SRS and 2% (95% CI: 0, 4.4) in the control group (P = .8). The 15-year probability of stroke was 2.6% (95% CI: 0.6%, 4.6%) in the SRS and 11.1% (95% CI: 6%, 15.9%) in the control group (P < .001). In Cox multivariate analysis stratified by age, SRS (HR 1.85 [95% CI:0.64, 5.35], P = .26) was not associated with risk of new stroke. Conclusions No increased risk of long-term secondary brain tumor, new stenosis or occlusion, and stroke was demonstrated in the SRS group compared to the control in this study with imaging surveillance.Publication Metadata only Does long segment subarachnoido-subarachnoid shunt prevent posttraumatic and postinfectious spinal arachnoid cyst recurrence?: technical note and case series(Elsevier Masson S.R.L., 2024) ; Akgün, Mehmet Yiğit; Ateş, Özkan; Akyoldaş, Göktuğ; Öktenoğlu, Bekir Tunç; Tepebaşılı, Mehmet Ali; Sasani, Mehdi; Özer, Ali Fahir; ; School of Medicine; Koç University HospitalSyringomyelia associated with extensive spinal adhesive arachnoiditis (SAA) can be defined as a rare but progressive disease with potentially devastating clinical consequences. Diagnosis can be challenging due to the absence of specific clinical findings, confusion with other pathologies, and late imaging modalities. The treatment strategy for syringomyelia associated with extensive SAA should include direct drainage of the syringomyelia, and dissection of the adhesive arachnoid with expansive duraplasty. Hence, several approaches have been reported for arachnoid dissection and decompression of the subarachnoid space. The high risk of recurrence after the operation is one of the most challenging situations. First two cases were operated previously, and the cyst walls were removed and anastomosed to the intact subarachnoid space at the upper and lower ends by each other. However, in both cases, the cyst recurred after a short time and they were anastomosed again in our clinic. A subarachnoid-subarachnoid shunt was placed with a multi-hole silicone tube extending to the proximal and distal intact subarachnoid spaces and passing through the cyst removal area. In our third case, the shunt system we described was applied directly, and satisfactory results were obtained in the clinical follow-up of the patient. It has been demonstrated that subarachnoido-subarachnoid shunt is a very satisfactory treatment option for this type of pathology, which is difficult to follow and treat. © 2024 Elsevier Masson SAS