Introduction: Vitreous, retinal, and suprochoroidal hemorrhages might develop secondary to trauma, retinal tear or detachment, neovascularization due to ischemic retina. If the clearance of retinal and vitreous hemorrhages can be accelerated, more effective treatments can be planned for the underlying pathology. Case Presentations: We present 6 different cases with dense vitreous, preretinal, and subretinal hemorrhages due to Valsalva retinopathy, polypoid choroidal vasculopathy, diabetic retinopathy, neovascular age-related macular degeneration, retinitis pigmentosa with vasculitis, and myopic choroidal neovascularization. To accelerate the clearance of these dense intraocular hemorrhages, a novel nonsurgical method of electromagnetic iontophoresis (MagnoVision (TM)) was used together with some appropriate medications in an outpatient setting without any complications or side effects. In all cases, liquefaction of the intraocular hemorrhage began by 5 days and mostly resolved by 10 days. This nonsurgical rapid clearance allowed us to diagnose and evaluate the underlying retinal and choroidal pathologies earlier and to treat them appropriately as early as possible. Conclusion: Combined use of electromagnetic iontophoresis, subtenon platelet-rich plasma and bevacizumab injection, and oral bromelain can be considered as an effective and safe new treatment method for vitreous and retinal hemorrhages without any need for surgical intervention.Introduction: Vitreous, retinal, and suprochoroidal hemorrhages might develop secondary to trauma, retinal tear or detachment, neovascularization due to ischemic retina. If the clearance of retinal and vitreous hemorrhages can be accelerated, more effective treatments can be planned for the underlying pathology. Case Presentations: We present 6 different cases with dense vitreous, preretinal, and subretinal hemorrhages due to Valsalva retinopathy, polypoid choroidal vasculopathy, diabetic retinopathy, neovascular age-related macular degeneration, retinitis pigmentosa with vasculitis, and myopic choroidal neovascularization. To accelerate the clearance of these dense intraocular hemorrhages, a novel nonsurgical method of electromagnetic iontophoresis (MagnoVision (TM)) was used together with some appropriate medications in an outpatient setting without any complications or side effects. In all cases, liquefaction of the intraocular hemorrhage began by 5 days and mostly resolved by 10 days. This nonsurgical rapid clearance allowed us to diagnose and evaluate the underlying retinal and choroidal pathologies earlier and to treat them appropriately as early as possible. Conclusion: Combined use of electromagnetic iontophoresis, subtenon platelet-rich plasma and bevacizumab injection, and oral bromelain can be considered as an effective and safe new treatment method for vitreous and retinal hemorrhages without any need for surgical intervention.
BACKGROUND:The impact of disability differs across cultures. This study aimed to determine the predictors of participation in children with cerebral palsy (CP) in Turkey, based on the six F-words. METHODS:Cross-sectional study exploring participation profiles of 450 children with CP, aged between 2 and 18 years. Pediatric Evaluation of Disability Inventory (PEDI) evaluated functional skills, and Assessment of Life Habits (LIFE-H) version 3.0 assessed daily and social participation. Hierarchical linear regression models were done to determine the predictors of participation in daily activities (PDA) and social roles (PSR) in three age groups (2-4, 5-13 and 14-18 years) based on the 6 F-words (mobility of PEDI for 'fitness'; four classification systems and self-care of PEDI for 'functioning'; social functions of PEDI for 'friends'; demographic information by parents for 'family'; the recreation of LIFE-H for 'fun'; and different stages of development for 'future'). RESULTS:The most important predictors for total PDA by age group were: self-care (p = 0.012) of PEDI in 2-4 y; self-care (p = 0.001) and mobility (p = 0.005) of PEDI in 5-13 y; GMFCS (p = 0.006) and mobility (p = 0.002) of PEDI in 14-18 y. Significant predictors for PSR differed by age group: self-care (p = 0.001) of PEDI in 2-4 y; self-care (p = 0.023) and mobility (p = 0.006) of PEDI in 5-13 y; and GMFCS (p = 0.004) and MACS (p = 0.003) in 14-18 y. CONCLUSIONS:Six F-words of function and fitness focussed on self-care in younger children with an increasing emphasis on mobility and ability levels according to age. Therefore, rehabilitation for different aspects of the functional levels is needed to improve participation in life across the six F-words framework; plus take into consideration context, age-differences, family's expectations, life requirements, environmental needs, and cultural differences.
Background. This study aimed to validate the Turkish version of Collins` Body Figure Perceptions and Preferences (BFPP) scale. The second aim of this study was to investigate the relationship between body image dissatisfaction (BID) and body esteem (BE), and between body mass index (BMI) and BID, among Turkish children. Methods. A descriptive cross-sectional study was conducted among 2066 4th grade children (mean age was 10.06 ± 0.37 years) in Ankara, Turkey. The Feel-Ideal Difference (FID) index from Collins` BFPP was used to assess the degree of BID. FID ranges from -6 to +6, with scores below or above 0 indicating BID. Collins` BFPP`s test-retest reliability was evaluated in a subset of 641 children. The Turkish version of the BE Scale for Adolescents and Adults was used to evaluate the children` BE. Results. More than half of the children were dissatisfied with their own body images (57.8% of girls vs. 42.2% of boys, p < .05). The lowest BE score in both genders was among adolescents who desired to be thinner (p < .01). The criterion-related validity of Collins` BFPP, in relation to BMI and weight, was at an acceptable level in girls (BMI rho= 0.69, weight rho= 0.66) and boys (BMI rho= 0.58, weight rho= 0.57), and was statistically significant in all cases (p < .01). The test-retest reliability coefficients of Collins` BFPP were found to be moderately high for both girls (rho=0.72) and boys (rho=0.70). Conclusions. Collins` BFPP scale is a reliable and valid tool for Turkish children aged 9-11 years. This study demonstrates that more Turkish girls than boys were dissatisfied with their bodies. Children who were affected by overweight/obesity and underweight had a higher BID than those with a normal weight. It is important to evaluate adolescents` BE and BID in addition to their anthropometric measurements during their regular clinical follow-up.
Abstract To investigate whether the natural progression rate of retinitis pigmentosa (RP) can be decreased with subtenon Wharton’s jelly-derived mesenchymal stem cell (WJ-MSC) application alone or combination with Magnovision. The study included prospective analysis of 130 eyes of 80 retinitis pigmentosa patients with a 36-month follow-up duration. Patients constitute 4 groups with similar demographic characteristics. The subtenon WJ-MSC-only group consisted of 34 eyes of 32 RP patients as Group 1; the Magnovision-only group consisted of 32 eyes of 16 RP patients as Group 2; the combined management group consisted of 32 eyes of 16 RP patients who received combined WJ-MSC and Magnovision as Group 3; the natural course (control) group consisted of 32 eyes of 16 RP patients who did not receive any treatment were classified as Group 4. Fundus autofluorescence surface area (FAF-field), horizontal and vertical ellipsoid zone width (EZW), fundus perimetry deviation index (FPDI), full-field electroretinography magnitude (ERG-m), and best corrected visual acuity (BCVA) changes were compared within and between groups after 36 months follow up period. FAF-field delta changes were detected 0.39 mm2 in Group 1, 1.50 mm2 in Group 2, 0.07 mm2 in Group 3 and 12.04 mm2 in Group 4 (Δp 4 > 2 > 1 > 3). Horizontal EZW, Vertical EZW, BCVA, and FPDI delta changes were detected Δp 4 > 1,2 > 3. ERG-m delta changes were detected Δp 3 > 1,2,4. Retinitis pigmentosa characterized by progressive loss of photoreceptors eventually leading to total blindness. The combination of WJ-MSC and Magnovision can significantly slow the progression of the disease in comparison to natural progression rate for 3 years in appropriate cases. Trial Registration: ClinicalTrials.gov, NCT05800301.
Dysphagia is the most common symptom in patients with esophageal atresia (EA) of all ages. There is no study addressing the direct relation between dysphagia and surgical results. Therefore, a systematic review was performed to define the relationship between surgical complications and dysphagia in patients with EA. The systematic review was drafted under PRISMA guidelines. Systematic literature search was performed for the period 2000 (Jan) to 2019 (Dec)—20 years—in the databases: MEDLINE, EMBASE, and PubMed. Statistical analysis was performed using Comprehensive Meta-Analysis Version 3.0 software. Among 767 articles, 486 abstracts were screened for the inclusion criteria. The full-texts of 64 articles were assessed for eligibility. The sub-group analysis could be performed in 4 articles for anastomotic strictures. Heterogeneity was calculated by I2 statistic as 18,487 and pooled odds ratio was measured under the fixed effect model (Q = 3.68; P = 0.298, I2 = 18,487). There was no significant relationship with an odds ratio of 1.37 between anastomotic stricture (AS) and dysphagia (95% CI 0.631–2.973, p = 0.426). There was no publication bias for the data (Begg’s test, p = 0.496; Egger’s tests, p = 0.335). This meta-analysis did not reveal a significant relationship between AS and dysphagia in children with EA. Since many other factors contribute to dysphagia, comprehensive variable information such as detailed standardized registry systems for rare diseases for pooling analysis is needed regarding other potential factors including surgical complications.
Infantile hypertrophic pyloric stenosis (IHPS) is one of the hallmark pediatric surgical diseases. However, its etiology remains incompletely understood. By systematically reviewing the literature, we aim to clarify the effect of the effect of occupational and environmental factors and role of nitric oxide (NO) metabolism in the etiopathogenesis of IHPS. The systematic review is drafted with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement (PRISMA) and the Meta-analysis of Observational Studies in Epidemiology (MOOSE). Systematic literature search will be performed for the period 2000 (Jan) to 2020 (Dec) in the databases: MEDLINE, EMBASE, PubMed. The systematic search will cover the literature in English and Turkish language and will be limited to studies on human subjects. Four investigators will independently search the databases (MEDLINE, EMBASE, PubMed) according to the defined search strategy. The full-text of the selected articles will be screened independently by four reviewers, against the inclusion criteria. Descriptive data will be extracted from each study regarding: study details, methods, participants, outcomes and calculations of association for potential further statistical analysis. If meta-analysis could not be undertaken, systematic approach to analyzing the findings of included multiple studies will be described. Heterogeneity will be assessed by quantifying the inconsistency across studies using I 2 statistic. Statistical analysis will be performed using Comprehensive Meta-Analysis Version 3.0 software. The p values lower than 0.05 will be considered statistically significant for all analyses.
Metabolic, hormonal, and hemodynamic changes during pregnancy may lead to some pathophysiological changes in the retina and posterior segment. Pregnancy is a process in which immunotolerance develops against the fetus and humoral immunity becomes dominant by suppressing cellular immunity. Knowing the natural history of posterior segment diseases during pregnancy and the inability to use some teratogenic treatment options should suggest alternative treatment options. In addition, some posterior segment findings detected during pregnancy impose a responsibility on the ophthalmologist to take some precautions early for maternal and fetal health.
Aim: The photoreceptors in retinitis pigmentosa (RP) remain in dormant status for a while with a decrease in the growth factors in their microenvironment before apoptosis. Growth factors reduce retinal degeneration and apoptosis in animal models. Materials & methods: The data of 188 eyes of 94 patients who were injected with autologous platelet-rich plasma (PRP) into the subtenon space three-times every 2 weeks were evaluated retrospectively. Results: Statistically significant improvements in visual acuity, visual field and fixation stability were detected after treatment. When the treatment response of the patients' better-seeing eye compared with the response of the other eye, there was no statistically significant difference. Conclusion: The PRP treatment has a favorable effect on visual functions in patients with RP. This approach is promising as it is safe and easy.
BACKGROUND:Intellectual disability (ID), or developmental delay (DD) when the individual is yet under 5 years of age, is evident before 18 years of age and is characterised by significant limitations in both intellectual functioning and adaptive behaviour. ID/DD may be clinically classified as syndromic or non-syndromic. Genomic copy number variations (CNVs) constitute a well-established aetiological subgroup of ID/DD. Overall diagnostic yield of microarrays is estimated at 10-25% for ID/DD, especially higher when particular clinical features that render the condition syndromic accompany.METHODS:In this study, we aimed to investigate the diagnostic yield of microarrays in the subgroup of individuals with non-syndromic ID/DD (NSID/NSDD). A total of 302 NSID/NSDD individuals who have undergone microarray analysis between October 2013 and April 2020 were included. Accompanying clinical data, including head circumference, delayed developmental areas, seizures and behavioural problems were collected and analysed separately in NSID and NSDD subgroups.RESULTS:The diagnostic yield of microarray analyses in NSID/NSDD was determined as 10.9% in NSID (10.7%) and in NSDD (11.1%). Presence of behavioural and epileptic problems did not contribute to the diagnostic yield. However, in the presence of macrocephaly, the contribution to diagnostic yield was statistically significant particularly in NSDD group. The most common pathogenic CNVs involved chromosomes 16, 15 and X. Lastly, we propose a Xq21.32q22.1 deletion as likely pathogenic in a child with isolated language delay and accompanying seizures.CONCLUSIONS:Particularly in neurodevelopmental diseases, microarrays are useful for establishing the diagnosis and detecting novel susceptibility regions. Future studies would accurately classify the herein presented variants of uncertain significance CNVs as pathogenic or benign.
Objectives: The Assessment of Life Habits (LIFE-H) is a well-known questionnaire used to evaluate participation. The aim of this study was to determine the reliability and validity of the Turkish version of the LIFE-H in children with Cerebral Palsy (CP). Patients and Methods: The study included 450 children with CP between the ages of 2-18 years old. The internal consistency and testretest reliability of the LIFE-H were calculated. The construct validity of the LIFE-H was determined with the Pediatric Evaluation of Disability Inventory (PEDI) domains and Pediatric Outcome Data Collection Instrument (PODCI) subscales. Results: The mean age of the children was 8.37±5.13 years (42.4% female, 57.6% male). The internal consistency of the LIFE-H was determined to be acceptable for all categories (Cronbach alpha:0.794-0.999). The test-retest reliability values were found to be of good to excellent reliability (ICC:0.804-0.999). The correlation between the LIFE-H total scores, PODCI subscales and PEDI domains was determined as acceptable (rho between 0.538-0.894) except for the Pain/Comfort, Happiness subscales of the PODCI (rho:0.240 – 0.479). Conclusions: It was determined that the Turkish LIFE-H had acceptable internal consistency, good test-retest reliability and satisfactory construct validity. Turkish LIFE-H is an appropriate tool to assess the participation of children and adolescents with CP.
BACKGROUND:Inherited retinal dystrophies (IRDs) are a group of retinal diseases genetically and clinically highly heterogeneous and associated with more than 300 genes. This study aims to investigate the genetic basis of Turkish patients with IRDs.MATERIALS AND METHODS:In the study, genes related to retinal diseases in 86 IRDs patients were analyzed using the Next Generations Sequencing method (NGS).RESULTS:The mean age of 86 patients was 35 and the mean age at diagnosis was 18. There was consanguinity between the parents of 62% of these patients. Fifty-six retinal disease-associated genes of 46 patients and 230 retinal disease-associated genes of 40 patients were examined. Genetic analysis provides a molecular diagnosis in a total of 53 (61.6%) patients. The genes responsible for the IRDs phenotype were frequently identified as ABCA4 (25%), EYS (11%), and RDH12 (9%). There was no significant difference between those with and without a molecular diagnosis in terms of demographic characteristics and family history.CONCLUSIONS:Determination of genetic cause by NGS method in IRDs subgroups that are difficult to define by ophthalmic examination ensures that patients receive accurate diagnosis, treatment and counseling. This study contributed to the understanding of the genotype-phenotype relationship of Turkish patients with IRDs.
Abstract Purpose To investigate the effect of the combination of Wharton's jelly derived mesenchymal stem cells (WJ-MSC) and high frequency repetitive electromagnetic stimulation (rEMS) in the therapy of toxic optic neuropathies with severe symptoms after the available current therapy modalities which were unsucessful. Material and methods This prospective, open-label clinical phase-3 study was conducted at Ankara University Faculty of Medicine, Department of Ophthalmology between April 2019 and April 2021. Thirty-six eyes of 18 patients with toxic optic neuropathy (TON) were included in the study. Within 1–3 months after the emergency interventions, patients with various degrees of sequela visual disturbances were studied in this clinical trial. The cases were divided into three groups according to similar demographic characteristics. Group 1: Consists of 12 eyes of 12 patients treated with the WJ-MSC and rEMS combination in one eye. Group 2: Consists of 12 eyes of 12 patients treated with only rEMS in one eye. Group 3: Consists of 12 eyes of six patients treated with only WJ-MSC in both eyes. The course was evaluated by comparing the quantitive functional and structural assessment parameters measured before and at the fourth month of applications in each group. Results The mean best corrected visual acuity (BCVA) delta change percentages of the groups can be ranked as: Group 1 (47%) > Group 3 (32%) > Group 2 (21%). The mean fundus perimetry deviation index (FPDI) delta change percentages of the groups can be ranked as: Group 1 (95%) > Group 2 (33%) > Group 3 (27%). The mean ganglion cell complex (GCC) thickness delta change (decrease in thickness) percentages can be ranked as: Group 1 (− 21%) > Group 3 (− 15%) > Group 2 (− 13%). The visual evoked potential (VEP) P100 latency delta change percentages of the groups can be ranked as: Group 1 (− 18%) > Group 3 (− 10%) > Group 2 (− 8%). The P100 amplitude delta change percentages of the groups can be ranked as: Group 1 (105%) > Group 3 (83%) > Group 2 (24%). Conclusion Toxic optic neuropathies are emergent pathologies that can result in acute and permanent blindness. After poisoning with toxic substances, progressive apoptosis continues in optic nerve axons and ganglion cells. After the proper first systemic intervention in intensive care clinic, the WJ-MSC and rEMS combination seems very effective in the short-term period in cases with TON. To prevent permanent blindness, a combination of WJ-MSC and rEMS application as soon as possible may increase the chance of success in currently untreatable cases. Trial Registration ClinicalTrials.gov ID: NCT04877067.
Amaç: Bu araştırmanın amacı, Evde Sağlıklı Beslenme Önündeki Engeller Ölçeği (ESBÖEÖ) Türkçe geçerlik ve güvenirliğini belirlemektir. Yöntem: Araştırma metodolojik tipte epidemiyolojik bir araştırmadır ve Ankara ilinde yapılmıştır. Araştırmada altı okulda öğrenim gören tüm altıncı sınıf öğrencilerin ailelerine ulaşılması hedeflenmiştir (n=641). Araştırmanın ilk aşamasına 435 ebeveyn, üç hafta sonra gerçekleştirilen ikinci (test tekrar test) aşamasına 340 ebeveyn katılmıştır. Araştırmada, kişisel bilgi formu ve ESBÖEÖ’ni içeren veri toplama aracı kullanılmıştır. ESBÖEÖ, yurtdışında geliştirilen, 18 madde ve iki boyuttan oluan ve sağlıklı beslenme önündeki engelleri ölçen bir ölçme aracıdır. Araştırmada IBM SPSS ver. 23.0 ve IBM AMOS ver 23.0 programları kullanılmıştır. Bulgular: Çalışmaya katılanların %77.8’i kadın ve %25.5’i düşük gelir grubundadır. ESBÖEÖ ile ilgili yapılan doğrulayıcı faktör analizinde bazı uyum iyiliği değerleri hesaplanmıştır. ESBÖEÖ güvenirlik analizlerinde, Cronbach alfa değeri az yağlı yiyecek önündeki engeller alt boyutu için 0.65; meyve, meyve suyu, sebze önündeki engeller alt boyutu için 0.76 olarak saptanmıştır. Sonuç: Yurt dışında yetişkinlere yönelik geliştirilen ve ebeveynlerle Türkçe uyarlaması yapılan ESBÖEÖ ile ilgili yapılan bazı aşamalar/analizler sonucunda, özgün yapıya uyum sağlayan bir ölçme aracı ortaya çıkmıştır. Tekrar (ölçek uyarlanmasında kullanılan tüm aşamaları kapsayan) geçerlik güvenirliği yapılana kadar ya da benzer bir ölçek literatüre kazandırılana kadar, ESBÖEÖ’nin ülkemizde kullanılması uygundur.
Abstract Purpose The aim of this study is to determine if umbilical cord Wharton’s jelly derived mesenchymal stem cells implanted in sub-tenon space have beneficial effects on visual functions in retinitis pigmentosa patients by reactivating the degenerated photoreceptors in dormant phase. Material and methods This prospective, open-label, phase-3 clinical trial was conducted between April of 2019 and October of 2019 at Ankara University Faculty of Medicine, Department of Ophthalmology. 32 RP patients (34 eyes) were included in the study. The patients were followed for 6 months after the Wharton’s jelly derived mesenchymal stem cell administration, and evaluated with consecutive examinations. All patients underwent a complete routine ophthalmic examination, and best corrected visual acuity, optical coherens tomography angiography, visual field, multifocal and full-field electroretinography were performed. The quantitative results were obtained from a comparison of the pre-injection and final examination (6th month) values. Results The mean best corrected visual acuity was 70.5 letters prior to Wharton’s jelly derived mesenchymal stem cell application and 80.6 letters at the 6th month (p = 0.01). The mean visual field median deviation value was 27.3 dB before the treatment and 24.7 dB at the 6th month (p = 0.01). The mean outer retinal thickness was 100.3 μm before the treatment and 119.1 μm at 6th month (p = 0.01). In the multifocal electroretinography results, P1 amplitudes improved in ring1 from 24.8 to 39.8 nv/deg2 (p = 0.01), in ring2 from 6.8 to 13.6 nv/deg2 (p = 0.01), and in ring3 from 3.1 to 5.7 nv/deg2 (p = 0.02). P1 implicit times improved in ring1 from 44.2 to 32.4 ms (p = 0.01), in ring2 from 45.2 to 33.2 ms (p = 0.02), and in ring3 from 41.9 to 32.4 ms (p = 0.01). The mean amplitude improved in 16 Tds from 2.4 to 5.0 nv/deg2 (p = 0.01) and in 32 Tds from 2.4 to 4.8 nv/deg2 (p = 0.01) in the full-field flicker electroretinography results. Full field flicker electroretinography mean implicit time also improved in 16 Tds from 43.3 to 37.9 ms (p = 0.01). No ocular or systemic adverse events related to the two types of surgical methods and/or Wharton’s jelly derived mesenchymal stem cells itself were observed during the follow-up period. Conclusion RP is a genetic disorder that can result in blindness with outer retinal degeneration. Regardless of the type of genetic mutation, sub-tenon Wharton’s jelly derived mesenchymal stem cell administration appears to be an effective and safe option. There are no serious adverse events or ophthalmic / systemic side effects for 6 months follow-up. Although the long-term adverse effects are still unknown, as an extraocular approach, subtenon implantation of the stem cells seems to be a reasonable way to avoid the devastating side effects of intravitreal/submacular injection. Further studies that include long-term follow-up are needed to determine the duration of efficacy and the frequency of application. Trial registration SHGM56733164. Redistered 28 January 2019 https://shgm.saglik.gov.tr/organ-ve-doku-nakli-koordinatorlugu/56733164/203 E.507.
The aim of the study was to investigate annual structural and functional results, and their correlation with inheritance pattern of retinitis pigmentosa (RP) patients who were treated with Wharton’s jelly-derived mesenchymal stem cells (WJ-MSCs). This prospective, sequential, open-label phase-3 clinical study was conducted at Ankara University Faculty of Medicine, Department of Ophthalmology, between April 2019 and May 2020. The study included 34 eyes from 32 retinitis pigmentosa patients of various genotypes who were enrolled in the stem cells clinical trial. The patients were followed for 12 months after the WJ-MSCs transplantation into subtenon space and evaluated with consecutive examinations. Genetic mutations were investigated using a retinitis pigmentosa panel sequencing method consisting of 90 genes. All patients underwent a complete routine ophthalmic examination with best corrected visual acuity, optical coherence tomography angiography, visual field, and full-field electroretinography. Quantitative data obtained from baseline (T0), 6th month (T1), and 12th month (T2) examinations were compared. According to timepoints at T0, T1, and T2: The mean outer retinal thickness was 100.3 μm, 119.1 μm, and 118.0 μm, respectively (p = 0.01; T0 < T1, T2). The mean horizontal ellipsoid zone width were 2.65 mm, 2.70 mm, and 2.69 mm respectively (p = 0.01; T0 < T1, T2). The mean best corrected visual acuity (BCVA) were 70.5 letters, 80.6 letters, and 79.9 letters, respectively (p = 0.01; T0 < T1, T2). The mean fundus perimetry deviation index (FPDI) was 8.0%, 11.4%, and 11.6%, respectively (p = 0.01; T0 < T1, T2). The mean full-field flicker ERG parameters at T0, T1, and T2: amplitudes were 2.4 mV, 5.0 mV, and 4.6 mV, respectively (p = 0.01; T0 < T1, T2). Implicit time were 43.3 ms, 37.9 ms, and 38.6 ms, respectively (p = 0.01; T0 > T1, T2). According to inheritance pattern, BCVA, FPDI, ERG amplitude, and implicit time data improved significantly in autosomal dominant (AD) and in autosomal recessive (AR) RP at 1 year follow-up (pAD = 0.01, pAR = 0.01; pAD = pAR > pX-linked). No ocular or systemic adverse events related to the surgical methods and/or WJ-MSCs were observed during the 1 year follow-up period. Subtenon transplantation of WJ-MSCs was found to be effective and safe in the treatment of RP during the first year, similar to the sixth month’s results. In autosomal dominant and autosomal recessive inheritance of RP, regardless of the genetic mutations, subtenon administration of WJ-MSCs can be considered an effective and safe option without any adverse effect for slowing or stopping the disease progression. ClinicalTrials.gov, NCT04224207 . Registered 8 January 2020
Purpose To investigate whether the natural progression rate of retinitis pigmentosa can be decreased with subtenon autologous platelet rich plasma application alone or combination with retinal electromagnetic stimulation. Material and methods The study includes retrospective analysis of 60 retinitis pigmentosa patients. Patients constitute 3 groups with similar demographic characteristics. The combined management group consists of 20 retinitis pigmentosa patients (40 eyes) who received combined retinal electromagnetic stimulation and subtenon platelet rich plasma as Group1; The subtenon platelet rich plasma-only group consisted of 20 retinitis pigmentosa patients (40 eyes) as Group2; The natural course (control) group consists of 20 retinitis pigmentosa patients (40 eyes) who did not receive any treatment were classified as Group3. Horizontal and vertical ellipsoid zone width, fundus perimetry deviation index and best corrected visual acuity changes were compared within and between groups after one year follow up period. Results Horizontal ellipsoid zone percentage changes were detected +1 % in Group1, -2.85% in Group2, -9.36% in Group3 (Δp 1>2>3). Vertical ellipsoid zone percentage changes were detected +0.34 % in Group1, -3.05% in Group2, -9.09% in Group3 (Δp 1>2>3). Fundus perimetry deviation index percentage changes were detected +0.05% in Group1, -2.68% in Group2 and -8.78% in Group3 (Δp 1>2>3). Conclusion Platelet-rich plasma is a good source of growth factors, but its half-life is 4-6 months. Subtenon autologous platelet rich plasma might more effectively slow down photoreceptor loss when repeated as booster injections and combined with retinal electromagnetic stimulation.
Aim: Childhood obesity is associated with psychosocial and medical comorbidities. Children affected by obesity have significantly lower self-esteem than children with normal weight, and families have an important role in the development of body image and body dissatisfaction. We aimed to examine the relationship between the body esteem of obese children and their parents' body esteem and weight status. Materials and Methods: This study was carried out in Ankara, the capital city of Turkey, and was rolled out to 9 to 11-year-old children and their parents in 46 schools (2,066 parent-child dyads). The data were collected via parent and child questionnaires. Anthropometric measurements were conducted by the project team. Four different logistic regression models were performed separately; body esteem and Body Mass Index (BMI) for fathers and sons, fathers and daughters, mothers and sons, and mothers and daughters. Results: Mothers obesity was associated with their daughters' and their sons' obesity status. Fathers' obesity status appears to be positively associated with their sons' status only but not their daughters'. The body esteem of the obese boys was adversely affected only by their own BMI in the models with their fathers and mothers. Compared to boys, girls were affected adversely by their own BMI, their body esteem, and their mothers' and fathers' body esteem. Conclusion: A strong association between both the mothers' and fathers' role in the body esteem of daughters was found. Further research should be conducted to better understand the socio-cultural dynamics that may be unique to the development of childhood obesity.
Acromesomelic dysplasia type Maroteaux (AMDM, OMIM #602875) is an autosomal recessive disorder characterized by severe short stature, shortened middle and distal segments of the limbs, redundant skin of fingers, radial head subluxation or dislocation, large great toes and cranium, and normal intelligence. Only the skeletal system appears to be consistently affected. AMDM is caused by biallelic loss-of-function variants in the natriuretic peptide receptor B (NPRB or NPR2, OMIM #108961) which is involved in endochondral ossification and longitudinal growth of limbs and vertebrae. In this study, we investigated 26 AMDM patients from 22 unrelated families and revealed their genetic etiology in 20 families, via Sanger sequencing or exome sequencing. A total of 22 distinct variants in NPR2 (14 missense, 5 nonsense, 2 intronic, and 1 one-amino acid deletion) were detected, among which 15 were novel. They were in homozygous states in 19 patients and in compound heterozygous states in four patients. Parents with heterozygous NPR2 variants were significantly shorter than the control. Extra-skeletal abnormalities, including global developmental delay/intellectual disability, nephrolithiasis, renal cyst, and oligodontia were noted in the patient cohort. The high parental consanguinity rate might have contributed to these findings, probably associated with other gene variants. This study represents the largest cohort of AMDM from Turkey and regional countries and further expands the molecular and clinical spectrum of AMDM.
Retinal pigment epithelium and photoreceptor cells are a microenvironment where 90 different peptides are synthesized for transduction, visual cycle, intracellular electron transport chain, and removal of metabolic wastes. Depending on the inheritance pattern, either mutant proteins accumulate inside the cells or the energy cycle is disrupted. Disruption of homeostasis causes the cells to switch to the dormant phase; if the improper conditions last longer, then apoptosis eventually develops resulting in a loss of visual function. In neural tissues, growth factors such as neural growth factor, brain-derived neurotrophic factor, ciliary neurotrophic factor, and insulin-like growth factor are regulatory peptides for intracellular energy cycle and intracellular digestion. In this study, it has been shown histopathologically that autologous growth factors can prevent apoptosis and prevent loss of outer retinal thickness in the retinal degeneration model created with sodium iodate.