Publications by authors named "Oznur Yılmaz"
Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.
Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.
Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without cleft palate (CL/P) and cleft palate only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset of 50 nonsyndromic patient-parent trios.
View Article and Find Full Text PDFPurpose: To explore the effects of telerehabilitation-based motor imagery (Tele-MI) training on motor imagery ability (MI), motor function, and performance in children with Duchenne muscular dystrophy (DMD).
Methods: The research involved twenty-three children with DMD and twelve healthy children. DMD cohort were randomized into two groups: treatment [Tele-MI training and telerehabilitation-based physiotherapy program (Tele-PTP), = 12] and control (Tele-PTP, = 11).
Article Synopsis
- The study aimed to explore how pelvic obliquity affects trunk control, spinal deformity, and motor functions in non-ambulatory patients with Duchenne muscular dystrophy aged 8-18 years.
- A total of 21 participants were evaluated using various scales and tools to measure upper extremity function, spinal deformity, and general motor performance.
- Results showed a strong link between pelvic obliquity and spinal deformity, suggesting that pelvic obliquity can worsen spinal health and motor function, especially in patients with joint issues and prolonged wheelchair use.
Purpose: The North Star Ambulatory Assessment (NSAA) is a functional motor outcome measure originally developed for patients with Duchenne muscular dystrophy (DMD). The aim of this study was to perform the cultural adaptation and investigate the validity and reliability of the Turkish version of the NSAA (T-NSAA) in DMD.
Methods: After translation process, internal consistency, interrater and test-retest reliability of the NSAA were determined by using the Cronbach Alpha Coefficient and Intraclass Correlation Coefficient (ICC), respectively.
Isl1 has been described as an embryonic master control gene expressed in the pericloacal mesenchyme. Deletion of Isl1 from the genital mesenchyme in mice leads to an ectopic urethral opening and epispadias-like phenotype. Using genome wide association methods, we identified ISL1 as the key susceptibility gene for classic bladder exstrophy (CBE), comprising epispadias and exstrophy of the urinary bladder.
View Article and Find Full Text PDFThis study aimed to investigate the effect of manual therapy on pain, kinesiophobia, pain catastrophizing, anxiety, depression, and quality of life in patients with lumbar disc herniation (LDH). The study included 32 LDH patients. Patients were divided into the Manual therapy group (MTG-age 39.
View Article and Find Full Text PDFWhile trunk control is essential for daily activities and motor function, there is currently sparse information regarding the psychometric properties of the outcome measures used for assessing trunk control in Duchenne muscular dystrophy (DMD), characterized by proximal muscle weakness. The Trunk Control Measurement Scale (TCMS) was developed to assess trunk control in children with cerebral palsy. We aimed to examine the reliability and validity of the Turkish version of the TCMS for children with DMD.
View Article and Find Full Text PDFBackground: Cognitive-motor dual-task walking results a decrease in walking performance of patients with multiple sclerosis (PwMS) and it is known as dual-task cost (DTC). However, there is a lack of evidence about the effects of dual-tasks with hierarchical difficulty on DTC in PwMS.
Research Question: This study aimed to investigate the effect of task difficulty on DTC during cognitive-motor dual-task walking in people with multiple sclerosis (PwMS).
Purpose: The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations.
Method: Children aged 7-16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail.
Background And Aims: Although aerobic exercises such as cycling and swimming are increasingly being recommended in Duchenne muscular dystrophy (DMD), their effect on gait and balance parameters is unclear. This study was aimed to investigate the effect of cycling training on balance and spatio-temporal gait parameters in children with DMD.
Methods: Ambulant children (age range: 6.
Background: Abnormal foot anthropometry and posture of patients with Duchenne Muscular Dystrophy (DMD) can be considered as possible risk factors for performance and ambulation. It was aimed to examine the effects of foot posture and anthropometric characteristics, which deteriorated from the early period, on ambulation and performance of patients with DMD.
Methods: The foot arch height (FAH), the metatarsal width (MW), subtalar pronation angle, and ankle limitation degree (ALD) were evaluated to determine the foot anthropometric characteristics of the patients.
Article Synopsis
- The study compares the sleep quality and daytime sleepiness of family caregivers of children with Spinal Muscular Atrophy (SMA) to those of caregivers of healthy peers.
- Results showed that caregivers of children with SMA experienced significantly poorer sleep quality, with higher PSQI scores, but similar levels of daytime sleepiness (EPS scores) compared to healthy peers.
- No notable differences in sleep quality or daytime sleepiness were found among caregivers of different SMA types, indicating a need for better support for caregivers in managing their sleep health.
Purpose: To investigate validity and reliability of the Kinesthetic and Visual Imagery Questionnaire-10 (KVIQ-10) in children with Duchenne Muscular Dystrophy (DMD), to compare the motor imagery (MI) ability with age-matched controls, and to examine the relationship between MI ability and cognitive status.
Methods: The research involved 38 children who were diagnosed with DMD, as well as 20 healthy controls aged between 7 and 18 years. The KVIQ-10 was assessed for its test-retest reliability, internal consistency, construct and concurrent validity.
Article Synopsis
- The study looked at koumiss, a fermented drink, to see how its parts and specific proteins change during different fermentation times.
- Researchers made 10 koumiss samples, testing one group at different hours and another group after several days in the fridge.
- They found that harmful bacteria levels decreased over time, but some proteins didn't change much, showing that the fermentation process doesn’t really change certain important components in koumiss.
The Metrisor device has been developed using gas sensors for rapid, highly accurate and effective diagnosis of metritis. 513 cattle uteri were collected from abattoirs and swabs were taken for microbiological testing. The Metrisor device was used to measure intrauterine gases.
View Article and Find Full Text PDFCELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).
View Article and Find Full Text PDFPurpose: To examine the effect of deep brain stimulation (DBS) on lower extremity dexterity in people with Parkinson's disease (PwPD) and to investigate the relationship between this effect and the effect of DBS on measures of different walking characteristics, and other features of Parkinson's disease.
Materials And Methods: Thirty-six PwPD were included. Assessment was performed twice with DBS "on" and DBS "off" state.
Background: Patients with Duchenne Muscular Dystrophy (DMD) have gait disorders. Therefore, specific gait assessment tools are needed.
Aims: The aim of this study was to develop a gait assessment instrument for DMD patients (DMD-GAS), and investigate its validity and reliability.
Electrical teat dipping (ETD) is a novel, patented method developed by the authors to control mastitis in dairy cows. Here we evaluate the efficacy of ETD in reducing the incidence of clinical mastitis and bulk tank milk somatic cell count (BTMSCC) on three dairy farms over 6 months. ETD was applied for morning and evening milking on three farms, while conventional teat dipping (CTD) was applied on the other three farms.
View Article and Find Full Text PDFImmune compatibility between mare and foal is one of the important topics of reproductive immunology. At this point, although there are many studies on antibodies, there are not many publications on the relationship between the cytokine levels of mare, foal and milk and the effects of milk composition on this relationship. Here we investigate the relationship between Th1/Th2 cytokine balance and milk composition in Kyrgyz mares and foals.
View Article and Find Full Text PDFTeat dipping is widely used in dairy cattle, especially to protect against contagious mastitis. Here we determine the effect of the device called 'Electrical Teat Dipping' (ETD), which was developed by combining teat dipping application and electrical field stimulation technique on teats. For this purpose, the front teats of 100 Holstein breed milking cows were evaluated in two groups, with ETD being applied once to the left front teat of these cows, and conventional teat dipping (CTD) being applied once to the right front teat, both after milking.
View Article and Find Full Text PDFBackground: is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system.
Methods: Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of during embryonic development.
Aim: The aim of this study was to investigate validity, reliability and feasibility of the Four Square Step Test (FSST) in children with Duchenne Muscular Dystrophy (DMD).
Methods: The study included 44 children with DMD aged 5-12 years. The functional level of the children was determined by using the Brooke Lower Extremity Functional Classification (BLEFC).
Background: Although the gait and balance disturbances of Duchenne muscular dystrophy (DMD) patients were evaluated by using different methods in literature, the impact of the foot and body posture on gait and balance has not been clearly described yet in DMD.
Aim: The aim of this study was to examine the relationship between foot-body posture and gait and balance in patients with DMD.
Methods: Ambulatory patients with DMD who had > 90° range of motion at ankle joint were included in the study.