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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 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 Indium-based quantum dots trapped in solid-state matrices: a one-pot synthesis, thermoresponsive properties, and enhanced micropollutant removal(Royal Society of Chemistry, 2024) Ük, Nida; Aykut, Sümeyye; Nar, Ilgın; Ünlü, Caner; Jahangiri, Hadi; Koç University Surface Science and Technology Center (KUYTAM) / Koç Üniversitesi Yüzey Teknolojileri Araştırmaları Merkezi (KUYTAM); ;Indium-based quantum dots (QDs), such as copper indium disulfide and zinc copper indium sulfide, have been the center of research for decades due to their low toxicity and unique photophysical properties. In contrast, versatile indium-based materials like In2S3 and ZnIn2S4 have been rarely studied in their QD form because of the challenges in their synthesis and used in solid-state material based applications because of their colloidal nature. In this study, a one-pot single-step method to synthesize In2S3, ZnIn2S4, and Cu-doped ZnIn2S4 QDs trapped in insoluble solid-state oleic acid matrices was developed. The QDs in solid-state matrices exhibited bright orange colored fluorescence with controllable emission properties achieved by altering the chemical composition. Among these QDs, the ZnIn2S4 QDs displayed thermo-responsive properties. As the temperature increased, the fluorescence intensity of ZnIn2S4 QDs decreased. In addition, all QDs demonstrated high removal efficiency for micropollutants in the aqueous medium, especially against cationic organic dyes. This study represents one of the first attempts at the direct development of QDs trapped in insoluble solid-state matrices. The QDs in solid-state matrices hold promise for applications in thermal sensors and studies related to the micropollutant removal. © 2024 The Royal Society of Chemistry.Publication Metadata only Letter: opening the parieto-occipital fissure for periatrial metastasis: 2-dimensional operative video(Lippincott Williams and Wilkins, 2024) ; Samancı, Mustafa Yavuz; ; School of Medicine;To the Editor: We have read with interest the article titled “Opening the Parieto-Occipital Fissure for Periatrial Metastasis: 2-Dimensional Operative Video” by Doğruel et al,1 detailing the use of the parieto-occipital fissure approach for a 54-year-old male patient with periatrial lung adenocarcinoma metastasis. Although the described surgical technique is notably innovative, we wish to express some concerns that emerge from a review of recent literature, which we believe warrant consideration:Publication Metadata only Loudness balancing optimization for better speech intelligibility, music perception, and spectral temporal resolution in cochlear implant users(Lippincott Williams and Wilkins, 2024) Deniz B.; Deniz, Rışvan; Ataş, Ahmet; School of Medicine;Hypothesis The behaviorally based programming with loudness balancing (LB) would result in better speech understanding, spectral-temporal resolution, and music perception scores, and there would be a relationship between these scores. Background Loudness imbalances at upper stimulation levels may cause sounds to be perceived as irregular, gravelly, or overly echoed and may negatively affect the listening performance of the cochlear implant (CI) user. LB should be performed after fitting to overcome these problems. Methods The study included 26 unilateral Med-EL CI users. Two different CI programs based on the objective electrically evoked stapedial reflex threshold (P1) and the behaviorally program with LB (P2) were recorded for each participant. The Turkish Matrix Sentence Test (TMS) was applied to evaluate speech perception; the Random Gap Detection Test (RGDT) and Spectral-Temporally Modulated Ripple Test (SMRT) were applied to evaluate spectral temporal resolution skills; the Mini Profile of Music Perception Skills (mini-PROMS) and Melodic Contour Identification (MCI) tests were applied to evaluate music perception, and the results were compared. Results Significantly better scores were obtained with P2 in TMS tests performed in noise and quiet. SMRT scores were significantly correlated with TMS in quiet and noise, and mini-PROMS sound perception results. Although better scores were obtained with P2 in the mini-PROMS total score and MCI, a significant difference was found only for MCI. Conclusion The data from the current study showed that equalization of loudness across CI electrodes leads to better perceptual acuity. It also revealed the relationship between speech perception, spectral-temporal resolution, and music perception.Publication Metadata only Neuropeptides affecting social behavior in mammals: oxytocin(Elsevier Inc., 2024) Zhou, Hong; Zhu, Rui; Xia, Yuqing; Zhang, Xinming; Wang, Zixu; Lorimer, George H.; Ghiladi, Reza A.; Wang, Jun; Bayram, Hasan; ; School of Medicine;Oxytocin (OXT), a neuropeptide consisting of only nine amino acids, is synthesized in the paraventricular and supraoptic nuclei of the hypothalamus. Although OXT is best known for its role in lactation and parturition, recent research has shown that it also has a significant impact on social behaviors in mammals. However, a comprehensive review of this topic is still lacking. In this paper, we systematically reviewed the effects of OXT on social behavior in mammals. These effects of OXT from the perspective of five key behavioral dimensions were summarized: parental behavior, anxiety, aggression, attachment, and empathy. To date, researchers have agreed that OXT plays a positive regulatory role in a wide range of social behaviors, but there have been controversially reported results. In this review, we have provided a detailed panorama of the role of OXT in social behavior and, for the first time, delved into the underlying regulatory mechanisms, which may help better understand the multifaceted role of OXT. Levels of OXT in previous human studies were also summarized to provide insights for diagnosis of mental disorders. © 2024 Elsevier Inc.Publication Metadata only Splicing variants of versican in CD133+/CD44+ prostate cancer stem cells(Elsevier GMBH, 2024) Ayla, Sule; Karakoc, Emre; Byrne, Yasemin Yozgat; Parlayan, Cuneyd; Keskin, Ilknur; Taskiran, Aysegul; Oktem, Gulperi; Karahüseyinoğlu, Serçin; ; School of Medicine;A cancer mass is composed of a heterogeneous group of cells, a small part of which constitutes the cancer stem cells since they are less differentiated and have a high capacity to develop cancer. Versican is an extracellular matrix protein located in many human tissues. The mRNA of versican has been shown to have "splicing patterns" as detected by RT-PCR, northern blot analysis, and cDNA sequencing. Based on this knowledge this study aims to reveal the splice variants of versican molecules, which are thought to be involved in the pathogenesis of the DU145 human prostatic carcinoma cell line and prostatic cancer stem cells isolated from this cell line. In this study, RWPE-1 normal prostatic and DU-145 human prostate cancer cell lines have been used. Prostatic cancer stem cells and the remaining group of non-prostatic-cancer stem cells (bulk population) were isolated according to their CD133+/CD44+. RNA was isolated in all groups, and sequence analysis was accomplished for splicing variants by Illumina NextSeq 500 sequencing system. The results were analyzed by bioinformatic evaluation. As five isoforms of the versican gene in the differential transcript expression are analyzed, it was observed that a significant change was only found in the isoforms Versican 0 and Versican 1. In this study, we explored the function of this molecule which we think to be effective in cancer progression, and suggested that more valuable results can be obtained after the accomplishment of in vivo experiments.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 Successful outcome following a multimodal pelvic rehabilitation program in a woman with neurogenic bladder and bowel dysfunction: a case report(Taylor and Francis, 2024) ; Albayrak, Havvanur; Atlı, Ecenur; Aydın, Serdar; Taşkıran, Özden Özyemişçi; ; School of Medicine; Koç University HospitalBackground Neurogenic bladder and bowel dysfunctions lead to physical, social, and emotional disability and affects one's quality of life. Initial treatment is conservative including several rehabilitation techniques such as pelvic floor muscle training, biofeedback, electrical stimulation, and posterior tibial nerve stimulation. Objective In this case report, a 45-year-old woman with neurogenic bladder and bowel dysfunction was presented. Case Description Her urinary and fecal incontinence symptoms began twenty years before this episode of care, after an incomplete spinal cord injury secondary to spinal ependymoma and syringomyelia. She discontinued medical treatments due to side effects and ceased intermittent catheterization. A multimodal pelvic rehabilitation program was administered consisting of posterior tibial nerve stimulation, active pelvic floor muscle training accompanied by biofeedback, and electrical stimulation of pelvic floor muscles. Outcomes There were clinically important favorable differences in the scores of King's health questionnaire (reductions in symptom severity from 25 to 18 and in each of the impact of incontinence, physical and social limitations, personal relationships, sleep/energy, and severity measures from 100 to 67), pelvic floor distress inventory (decreased from 257 to 146) and female sexual function index (increased from 15.1 to 25.1) after 12 weeks of a multimodal pelvic rehabilitation program. Manual muscle tests demonstrated improvements in pelvic floor muscle strength and endurance. Conclusion A 12-week multimodal pelvic rehabilitation program reduced urinary and fecal incontinence symptoms, together with improvements in her sexual life and alleviation of neuropathic pain.