Comparison of Tenon duplication with dura mater covering technique for Ahmed glaucoma valve implantation.

PURPOSE: To compare the efficacy and complications of Tenon duplication with dura mater covering technique for Ahmed glaucoma valve (AGV) implantation. METHODS: This retrospective study included 44 refractory glaucoma patients (44 eyes) who underwent AGV implantation from 2017 to 2020 in the Ophthalmology Clinic of Eskisehir Osmangazi University Hospital and attended regular postoperative follow-ups. The patients were divided based on whether they underwent Tenon duplication technique (group 1: n = 20) or dura mater covering technique (group 2: n = 24) during surgery. The patients' age, gender, systemic diseases, glaucoma type, pre-op intraocular pressure (IOP), and ocular surgeries were recorded. The groups were compared for IOP level control, early and late complications, postoperative antiglaucomatous medication requirements, glaucoma surgery requirements, presence of postoperative hypertensive phase (HP), and surgical success which was defined as an IOP ≥5 and ≤21 mmHg, with or without antiglaucoma medication. RESULTS: By the end of the mean follow-up (22.6 ± 10.6 months), the success rates were 95% (group 1) and 96% (group 2). The groups showed no differences in postoperative complications, postoperative antiglaucomatous drugs' onset time, additional glaucoma surgery, need for needling, presence of HP at 6 months postoperatively, and relationship between the glaucoma type and success rates ( P values: 0.86, 0.9, 0.48, 0.12, 0.36, and 0.8, respectively). The IO P values at the last follow-up were 15.2 ± 4.1 in group 1 and 14.7 ± 4.8 in group 2. The IOP reduction rates showed no significant differences. CONCLUSION: Since success and complications are similar in both Tenon duplication and dura mater covering technique, unique grafting materials may not be needed in AGV implantation surgery, except in special cases.

Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1): A Case Report and Review of the Literature.

Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and primary adrenocortical insufficiency. A 3.3-year-old girl was presented with a carpopedal spasm to the pediatric emergency clinic. She had a history of recurrent keratitis, and chronic candidiasis as urinary tract infections and oral thrashes. Hypoparathyroidism (HPT) was diagnosed based on low serum concentrations of calcium and parathyroid hormone and elevated serum concentrations of phosphate, and treatment with calcium and calcitriol supplementation was started. Genetic testing revealed homozygosity for nonsense c.769C>T (p.R257X) mutation in exon 6 in the AIRE gene which was reported previously. At the age of 5.6 years, she was presented with an adrenal crisis, and treatment with hydrocortisone and fludrocortisone was started. The reported case highlights that unexplained chronic keratitis in children may be the first and most severe component of this syndrome. The classic triad of APS-1 may also appear in the first decade of life.

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus.

Objective: Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes. To date, mutations have been identified in 14 different genes of patients with a clinical diagnosis of MODY. This study screened mutations in 14 MODY-related genes and the regulator factor X6 (RFX6) gene in children. Materials and Methods: The presence of clinical features of MODY and negative results for three autoantibody markers of T1DM in children and adolescents were used as inclusion criteria for genetic testing. The screening panel for next-generation sequencing included 14 MODY-related genes (GCK, HNF4A, HNF1A, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, and APPL1) and the RFX6 gene. Results: Twenty-four different variants in MODY-related genes were identified in 49 children diagnosed with autoantibody-negative type 1 diabetes mellitus (T1DM). A 12 variants were classified as P/LP while 12 were interpreted as variant of unknown significance (VUS). Nine of the pathogenic or likely pathogenic variants were found in GCK, two in HNF1B, and one in ABCC8. Three variants were novel, and one was a de novo variant. All of the variants, except one, showed heterozygotic inheritance. Conclusion: This study screened mutations in the 14 MODY-related genes and the regulatory factor X6 (RFX6) gene in Turkish children diagnosed with autoantibody-negative type 1 diabetes mellitus (T1DM). The frequencies of the MODY subtypes differed from previous reports. Although GCK-MODY was the most frequent mutation in Turkish children, similar to previous studies, the second most prevalent MODY subtype was HNF1B-MODY. This study also established three additional novel mutations in different MODY genes.

Cyclodialysis Cleft and Hypotony Following Combined Phacoemulsification and Excisional Goniotomy with the Kahook Dual Blade.

A 69-year-old woman with bilateral primary open-angle glaucoma who underwent cataract extraction with intraocular lens implantation and excisional goniotomy with the Kahook Dual Blade (KDB; New World Medical, Rancho Cucamonga, CA, USA) in both eyes one year prior was referred for evaluation of significant visual acuity loss and pain in the left eye. On initial examination, intraocular pressure in the left eye was 3 mmHg and slit lamp examination revealed normal anterior chamber depth. Gonioscopy revealed a cyclodialysis cleft that was confirmed by anterior segment optical coherence tomography. Prominent chorioretinal folds suggestive of long-standing hypotony maculopathy were observed during fundoscopic examination. The cyclodialysis cleft, thought to be created inadvertently during the KDB goniotomy, resolved after three sessions of argon laser photocoagulation and the patient's symptoms and visual acuity partially improved.

Factors associated with balance ability in Duchenne and Becker muscular dystrophies.

BACKGROUND: Problems such as progressive muscle function loss, postural deteriorations, and contractures seen in patients with Duchenne and Becker muscular dystrophies (D/BMD) may affect children's balance ability, and impaired balance ability may lead to limitations in children's functional level. RESEARCH QUESTION: What factors are associated with balance ability in children with D/BMD? METHODS: Twenty participants with D/BMD were included in the study. Participants' ages were asked; height, body weight, and body mass index (BMI) were recorded. Children's functional level was assessed with the Motor Function Measurement-32 (MFM-32), Brooke and Vignos Scales. Muscle strength of hip flexion and extension, knee flexion and extension, and ankle dorsiflexion was measured with a handheld dynamometer. Balance measurements were performed using the Balance Master System. The relationship between balance and continuous independent variables was determined using Spearman's test. RESULTS: The mean age of the participants was 8.57 ± 3.27 years. The balance abilities of children with BMD were better than those of children with DMD (p < 0.05). The balance diminished with age (p < 0.05), while there was a positive correlation between balance and weight, height, BMI (p < 0.05). There was a positive correlation between the balance and the MFM-32 total and subsection scores. Muscle strength was positively related to balance (p < 0.05). SIGNIFICANCE: The results showed the balance ability in children with D/BMD was affected by age, height, weight, BMI, functional level, and muscle strength. Based on the results of this study, balance and strength training should be an integral part of the rehabilitation of children with D/BMD.

The psychometric properties of Turkish version of the Modified Paediatric Mini Mental Scale.

BACKGROUND: Children with neurological diseases suffer from neurocognitive problems due to both the disease and the treatment processes. Therefore, it is necessary that a battery can be used to determine and track the cognitive function of these children. The aim of this study is to establish the Turkish version of the Modified Paediatric Mini Mental Scale (MPMMS), ensure its cultural adaptation, and test the validity and reliability of the Turkish version of the MPMMS. METHODS: Sixty-five children with the neurological condition were enrolled in this methodological study. The subjects' age, height, weight, and body mass index were recorded. The MPMMS and the social function subscale of the Paediatric Evaluation of Disability Inventory (PEDI) were used to assess the participants' cognitive function. The construct validity of the questionnaire was determined by the correlation between the MPMMS and the social function subscale of the PEDI. Cronbach's alpha was calculated to determine internal consistency. To determine test-retest reliability, 32 children were assessed 7-14 days after the initial assessment, and the intraclass correlation coefficient (ICC) was calculated. RESULTS: The mean age of the participants was 9.26 ± 3.87 years. A very strong significant correlation was found between the MPMMS and social function subscale of the PEDI (r = 0.935, p = 0.000). The internal consistency of the MPMMS was excellent (Cronbach's alpha = 0.932). CONCLUSIONS: The Turkish version of the MPMMS has excellent validity and reliability and can be used by professionals in various health care settings to determine children's cognitive abilities.

Functional level and its relationship to upper extremity function, pain, and muscle stiffness in children with Duchenne muscular dystrophy.

BACKGROUND: The progressive symptoms of Duchenne muscular dystrophy (DMD) negatively affect upper extremity skills, and this may have an effect that reduces the independence of daily life. AIMS: The purpose of this study is to investigate the relationship between functional level and upper extremity function, pain, and stiffness in children with DMD. METHODS: A total of 38 children with DMD were participated. The functional level of the upper and lower extremities was assessed using Brooke scale and Vignos scale. Upper extremity function, pain and stiffness were assessed using Upper Limb Short Questionnaire (ULSQ). The correlation between ULSQ and Brooke and Vignos scales was calculated. RESULTS: A moderate positive correlation was calculated between ULSQ total scores and Vignos scale (r = 0.52, p < 0.001) and Brooke scale (r = 0.65, p < 0.001). There was a moderate positive correlation between Vignos scale scores and ULSQ subscores of function (r = 0.42, p < 0.05) and stiffness (r = 0.56, p < 0.001); no significant correlation was found between pain scores and Vignos scale (p = 0.053). There was a moderate positive correlation between the function (r = 0.54, p < 0.001), pain (r = 0.40, p < 0.05), and stiffness (r = 0.62, p < 0.001) subscores of the ULSQ with the Brooke scale. CONCLUSION: In our study, there was a significant relationship between the functional level of patients with DMD and upper extremity function, pain, and muscle stiffness.

Stimulated biofeedback training for a child with Becker muscular dystrophy and compartment syndrome in the left forearm.

BACKGROUND: Muscular dystrophy negatively affects ambulation, mobility, self-care, and community involvement. Neonatal compartment syndrome (NCS) causes loss of muscle strength, sensory problems, and limb dysfunction. Patients with Becker Muscular Dystrophy (BMD) and/or NCS may benefit from individualized rehabilitation to improve function. PURPOSE: This case report describes stimulated biofeedback training (SBT) to improve the functional level, muscle strength, balance, and hand function in a child with BMD and NCS. CASE DESCRIPTION: An 8-year-old male patient with BMD and NCS in the left forearm received 12-weeks of SBT. The functional level was assessed by the Motor Function Measurement-32 (MFM-32), muscle strength by a hand-held dynamometer, balance by the Neurocom Balance Master, and upper limb function by the Quality of Upper Extremity Skills Test (QUEST) at the initial examination, after 6 weeks and after 12 weeks of treatment. Laboratory tests to monitor changes in serum creatine kinase were performed throughout the episode of care. OUTCOMES: The laboratory values remained within the appropriate range to continue SBT. Functional level, hand function, hip, and knee flexion/extension strength, and dorsiflexion strength improved. CONCLUSIONS: This case report suggests that SBT safely and effectively improved functional level, muscle strength, and hand function in this child with BMD and NCS.

Risk factors for hypertensive phase after Ahmed glaucoma valve implantation.

PURPOSE: To investigate the risk factors and the clinical characteristics of the hypertensive phase (HP) after Ahmed glaucoma valve (AGV) implantation. METHODS: This retrospective study included 60 eyes of 57 patients who underwent AGV implantation and with at least 1-year follow-up. HP was defined as intraocular pressure (IOP) > 21 mmHg in the first 3 months after the surgery. Independent samples t-test and Chi-square test were used to compare differences in patients with the HP and the non-HP groups. Univariable and multivariable logistic regression analyses were used to determine the risk factors for the development of the HP. Statistical significance was assumed at p < 0.05 level. RESULTS: HP was observed in 31 eyes (51.7%) with an average peak IOP of 27.6 ± 4.5 mmHg (range 22-40 mmHg). The resolution of HP was noted in 27 eyes (87.1%) at the 3rd month postoperative visit. The number of glaucoma medications at the last postoperative visit and IOP values from 1 month to 1 year were significantly higher in the HP group (all p < 0.05). Patients with traumatic glaucoma showed the highest rate (83.3%) of HP development. In the multivariable analysis, a preoperative IOP > 30 mmHg (p = 0.03, OR:5.82; reference: ≤ 25 mmHg) and younger age (41-64 years, p = 0.02, OR:8.49; ≤ 40 years, p = 0.001, OR:19.62; reference: ≥ 65 years) were independently associated with the occurrence of HP. CONCLUSION: Hypertensive phase was observed in half of the patients undergoing AGV implantation. A higher mean preoperative IOP and younger age were risk factors for HP development. Although the majority resolved at the 3-month visit, eyes with HP had higher mean IOPs and required more IOP lowering medications.

PLANTAR SENSATION AND BALANCE IN PATIENTS WITH TYPE 2 DIABETES MELLITUS WITH AND WITHOUT PERIPHERAL NEUROPATHY.

The aim of the study was to investigate the effect of diabetes on plantar sense and balance in patients with type 2 diabetes mellitus (T2DM). The study included 300 subjects divided into three groups: 100 T2DM patients with diabetic peripheral neuropathy (group 1); 100 T2DM patients without peripheral neuropathy (group 2); and 100 subjects without DM (group 3). Berg Balance Scale (BBS), Timed Up and Go test (TUG), single leg test with eyes open and closed, and plantar sensory tests were applied in the subjects. Study results showed significant differences in plantar sensory tests, BBS, TUG and single leg test among the three groups (p<0.05). In addition, duration of DM and medication were negatively correlated with single leg test both with eyes open and closed, but showed positive correlation with plantar sense and TUG test. Furthermore, the length of insulin therapy showed positive correlation with plantar sense and TUG test and negative correlation with BBS (p<0.05). In conclusion, DM has an effect on plantar sense and balance, and there is a relation between the duration of DM and balance problems. Balance problems are observed more often in patients with neuropathy.

Investigation of the relationship between physical activity, kinesiophobia and fear of falling in older adults with chronic pain.

AIMS: This study aims to investigate the relationship between physical activity, fear of movement and fear of falling in older adults with chronic pain. MATERIALS AND METHODS: The study includes 163 older adults aged 65 years and over, who live in a private nursing home. The cognitive functions of the individuals who participated in the study were evaluated with the mini-mental examination scale (MMES), fears of movement with the Tampa Scale of Kinesiophobia (TSK), fear-avoidance behaviour with the Fear-avoidance Beliefs Questionnaire (FABQ), physical activity levels with the Physical Activity Scale for Older (PASE), and the fears of falling were assessed with Tinetti's Falls Efficacy Scale (FES). RESULTS: In the correlation analysis, there was a weak correlation between age and fall risk (r = 0.349, p < 0.001), and PASETotal score (r = -0.020, p = 0.011). There was a weak positive correlation between Tinetti FES and FABQ scores (r = 0.349, p < 0.001), and kinesiophobia value (r = 0.259, p < 0.001), there was a weak negative correlation between Tinetti FES and PASETotal (r = -0.241, p = 0.002). A positive mid correlation was determined between kinesiophobia and the FABQ scores (r = 0.41, p < 0.001). The established regression model was found to be significant (F = 12.175; p < 0.001). Among the independent variables included in the model, FABQTotal (t = 3.589; p < 0.0001) and PASETotal (t = -3.325; p < 0.0001) significantly affected the fear of falling. CONCLUSION: The presence of chronic pain in older adults who have problems related to physical activity, fear of falling, and kinesiophobia due to advancing age may affect social participation, functional level, and quality of life significantly. Therefore, pain should be addressed in older adults and should be considered as an important issue in rehabilitation programs.

Anthropometric and demographic properties affect balance in healthy adults: an observational study.

BACKGROUND: Anthropometric and demographic properties may affect balance, but there is no consensus on this subject; so, there is a need for studies that explore it. This study aimed to assess the relationship between balance and anthropometric as well as demographic properties; and to determine the effect of anthropometric and demographic properties on balance in healthy adults. METHODS: Sixty healthy adults were included in this study. The ages of the participants were questioned; height, body weight, Body Mass Index, head circumference, upper extremity, lower extremity, and foot length were evaluated, and shoe numbers were recorded. Balance assessments were performed with the Balance Master System device. RESULTS: The mean age of the participants was 23.50±1.97 years. The balance developed with age (P<0.05), while there was a negative correlation between height and balance (P<0.05). Weight gain affected balance negatively (P<0.05). The increase in head circumference, extremity, and foot length was associated with a deterioration in balance (P<0.05). CONCLUSIONS: The results of the current study were showed that anthropometric and demographic properties affect balance. The increase in some of the anthropometric and demographic properties including height, weight, head circumference, extremity, and foot length harms the balance. During balance assessments, anthropometric and demographic characteristics should be considered as a factor that affects balance.

Motivation and motivation-related factors in children with disabilities.

PURPOSE: Assessing motivation and motivation-related factors will contribute to a better understanding of motivation and the development of optimal rehabilitation conditions. The purpose of this study was to determine the motivation level and investigate the relationship of motivation level with socio-demographic characteristics (i.e., age, gender, comorbidities), functional level, and family satisfaction with rehabilitation centers in children with disabilities. METHODS: Sixty-two children with disabilities were included in the study, and the socio-demographic characteristics were recorded. Children were assessed by the Pediatric Motivation Scale (PMOT) and the Pediatric Functional Independence Measure (WeeFIM). Also, parents were asked to complete a questionnaire titled, "A patient satisfaction instrument for outpatient physical therapy clinics." RESULTS: The mean age of the children was 12.16 ± 3.19 years. Total PMOT and WeeFIM scores were found to be 93.71 ± 9.66 and 108.23 ± 22.14, respectively. There was a positive correlation between children's PMOT score and the satisfaction score of their families that was statistically significant (r= 0.602, p< 0.05). CONCLUSION: The level of family satisfaction with rehabilitation centers was found to be positively correlated with the motivation level of children. Improving family satisfaction with rehabilitation centers, potentially through modifying the physical conditions of rehabilitation centers and focusing on the interest of the family, may increase the motivation level of children, and thus may improve rehabilitation outcomes.

Exploring the Relationship of Pain, Balance, Gait Function, and Quality of Life in Older Adults with Hip and Knee Pain.

BACKGROUND: Musculoskeletal pain is a common problem in older adults and can result in disability and suffering. Uncontrolled pain leads to diminished quality of life (QoL) and places a great financial burden on the healthcare system. AIMS: The aim of this study was to explore the relationship of pain, balance, gait function, and QoL in older adults with hip and knee pain. DESIGN: This was a descriptive, correlational, and cross-sectional study. METHODS: The study included 111 older adults. Knee and hip pain was evaluated with a visual analog scale (VAS). Balance and gait functions were evaluated using the Timed Up-and-Go Test (TUG) and the Tinetti Balance and Gait Test (TBGT). Health-related QoL was evaluated with the Nottingham Health Profile (NHP). RESULTS: The TUG, pain, physical activity, and total NHP scores showed statistically significant differences between those with and without complaints of hip and knee pain (p < .05). Social isolation was more frequent in the older adults with knee pain (p < .05). Lower levels of performance were recorded in the TBGT for subjects with hip pain compared with those without hip pain (p < .05). CONCLUSIONS: Pain in the lower extremities can play an important role in the deterioration of QoL and loss of balance and gait function. Knee pain may affect gait performance and QoL more than hip pain. Nurses and physical therapists in nursing homes should have good knowledge of pain and regularly monitor undiagnosed pain conditions in the lower extremities of older adults.

Pain in adults with cerebral palsy: A systematic review and meta-analysis of individual participant data.

BACKGROUND: There is little focus on adults with cerebral palsy (CP) in research and health care and insufficient knowledge on how to identify and manage pain in this population. OBJECTIVES: This systematic review and meta-analysis aimed to determine whether pain prevalence in adults with CP is high and to explore variations in pain prevalence of subgroups, pain locations, pain severity and pain interference. METHODS: Potential datasets were identified by experts in the field and literature searches in Embase, MEDLINE, and Cochrane, from January 2000 to October 2016. Included studies had a representative sample of ≥25 adults with CP and ≥1 pain outcomes. Methodological quality assessment, pain prevalence estimates and logistic regression models for subgroup effects on pain prevalence were conducted. RESULTS: In total, 17 eligible studies were identified from 4584 publications. A meta-analysis was performed with individual participant data from 15 studies totalling 1243 participants (mean [SD] age 34.3 [12.6] years). Overall mean pain prevalence was 70% (95% CI 62-78). Women were more likely to have pain than men (P<0.001). The odds of pain was increased in adults with gross motor function level II (odds ratio [OR] 1.92, 95% CI 1.22-3.12) and IV (OR 1.77, 95% CI 1.03-4.29). Participants with pain reported pain predominantly in the legs (76%, 95% CI 66-84), and mean pain severity was 3.7/10 (95% CI 2.7-4.7) and pain interference 3.5/10 (95% CI 2.5-4.5). CONCLUSIONS: This meta-analysis provides the first reliable pain prevalence estimate in a large international sample of adults with CP. The high prevalence of pain, 70%, suggests that adults with CP should be routinely screened for pain and treated accordingly. The range of measurement instruments used by the included studies emphasizes using common outcome measures specific to pain internationally.

Quantitative analysis of the optic nerve head parameters in patients with age-related macular degeneration

Background/aim: To evaluate the topographic parameters of the optic disc of patients with age-related macular degeneration (AMD) by performing confocal scanning laser ophthalmoscopy. Materials and methods: This prospective study included 41 eyes of 41 patients with neovascular AMD, 56 eyes of 56 patients with nonneovascular AMD, and 48 eyes of 48 healthy control subjects. Images of the optic nerve head of all of the participants were obtained using Heidelberg retinal tomography III software 3.1. The following stereometric parameters were measured for each participant: disc area, cup area, rim area, cup volume, rim volume, cup-to-disc ratio, mean cup depth, maximum cup depth, cup shape, and mean retinal nerve fiber layer thickness. Results: The cup shape values of the patients with neovascular and nonneovascular AMD were significantly different from those of the control subjects (P = 0.002 and P < 0.001, respectively). The cup-to-disc ratio was significantly higher in the patients with nonneovascular AMD when compared with the control subjects (P = 0.013), but no difference was found between the patients with neovascular AMD and the control subjects (P > 0.05). No significant differences were observed among the 3 groups with respect to the other optic disc parameters (P > 0.05). Conclusion: These data showed that the deterioration of the cup shape was an important finding in patients with AMD. Because AMD manifests with progressive ocular damage, including the optic nerve head, examination of the cup shape may be important during the follow-up of these patients.

Validation of the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) in a sample of Turkish non-ambulatory children with cerebral palsy.

AIM: The aim of this study was to translate and transculturally adapt the Caregiver Priorities and Child Health Index of Life with Disabilities questionnaire into the Turkish language and test the reliability and validity. MATERIAL AND METHODS: Eighty-two children with cerebral palsy and their parents were included in the study. The majority of children had spastic cerebral palsy. According to the Gross Motor Function Classification System, 26 children were level III, 30 children were level IV, and 26 children were level V. International accepted guidelines were used in the transcultural adaptation and validation process. Reliability was assessed through statistical analysis of the test results for test-retest and internal consistency. To assess construct validity, Caregiver Priorities and Child Health Index of Life with Disabilities was compared with the Child Health Questionnaire Parent Form. Concurrent validity was assessed by examining how Caregiver Priorities and Child Health Index of Life with Disabilities scores changed according to Gross Motor Function Classification System levels. RESULTS: The mean total score of Caregiver Priorities and Child Health Index of Life with Disabilities was 58.34±26.39. The intraclass correlation coefficient for the total questionnaire score was 0.75, ranging from 0.43 to 0.89 for six domains. Cronbach's alpha was above 0.80 in all domains of Caregiver Priorities and Child Health Index of Life with Disabilities, except the health domain. The construct validity was good because there was a positive correlation between total Child Health Questionnaire Parent Form and Caregiver Priorities and Child Health Index of Life with Disabilities scores (r=0.58, p<0.01) according to the Pearson correlation analysis. Caregiver Priorities and Child Health Index of Life with Disabilities scores were found to be different between Gross Motor Function Classification System levels (p<0.05). CONCLUSION: This study showed that the Caregiver Priorities and Child Health Index of Life with Disabilities appears to be easy to administer, seems to have significant validity and reliability, and may be useful in the evaluation of health-related quality of life of children with cerebral palsy.

AMAÇ: Bu çalismanin amaci, Bakim Veren Öncelikleri ve Engelli Çocuk Yasam Saglik Endeksi anketinin Türkçe'ye uyarlanmasi, geçerlilik ve güvenirliligini çalismaktir. GEREÇ VE YÖNTEMLER: Çalismaya 82 beyin felçli çocuk ve ailesi alindi. Ayrica çalismaya alinan çocuklarin büyük çogunlugu spastik tip beyin felci olup, 26'si Kaba Motor Fonksiyon Siniflama Sistemi'ne göre seviye III, 30'u seviye IV ve 26'si seviye V idi. Öncelikle, Bakim Veren Öncelikleri ve Engelli Çocuk Yasam Saglik Endeksi'nin çeviri ve geri çeviri islemi gerçeklestirildi. Güvenirlik, test-tekrar test ve iç tutarlilik ile degerlendirildi. Yapi geçerliligi, Çocuk Sagligi Ebeveyn Formu ile degerlendirildi. Eszamanli geçerlilik ise çocuklarin Kaba Motor Fonksiyon Siniflama Sistemi seviyeleriyle, engelli çocuk yasam saglik endeksi skorlarinin nasil degistigine bakilarak degerlendirildi. BULGULAR: Bakim Veren Öncelikleri ve Engelli Çocuk Yasam Saglik Endeksi için ortalama toplam skor 58,34±26,39 olarak belirlendi. Ölçegin iç tutarlilik degeri her 6 alt ölçüm için 0,43 ile 0,89 arasinda degisen degerlerde olup, toplam skor için 0,75 olarak saptandi. Cronbach alpha degeri saglik alt basligi hariç bütün alt ölçümlerde 0,80 degerinin üstünde bulundu. Yapi geçerliligi için yapilan Pearson korelasyon çözümlemesine göre Çocuk Sagligi Ebeveyn Formu ile Bakim Veren Öncelikleri ve Engelli Çocuk Yasam Saglik Endeksi arasinda pozitif yönde bir iliski bulundu (r=0,58, p<0,01). Bakim Veren Öncelikleri ve Engelli Çocuk Yasam Saglik Endeksi skorlari Kaba Motor Fonksiyon Siniflama Sistemi seviyeleri arasinda farkli bulundu (p<0,05). ÇIKARIMLAR: Bu çalisma, Bakim Veren Öncelikleri ve Engelli Çocuk Yasam Saglik Ölçegi'nin beyin felçli çocuklarda saglikla iliskili yasam kalitesinin degerlendirilmesinde önemli derecede yararli oldugunu, ölçegin oldukça yüksek geçerlilik ve güvenirlige sahip oldugunu göstermistir.

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

BACKGROUND: The term "H syndrome" was coined to denote the major clinical findings, which include hyperpigmentation, hypertrichosis, hearing loss, hepatosplenomegaly, hyperglycaemia, hypogonadism, hallux flexion contractures, and short height. OBJECTIVE: To report the clinical, endocrinological, histochemical, and genetic findings of three siblings. METHODS: Skin and liver biopsies were taken to investigate the histochemical characteristics of hyperpigmented hypertrichotic skin lesions and massive hepatomegaly. The levels of basal serum thyroid hormones, oestradiol, total testosterone, follicle-stimulating hormone, luteinising hormone, and stimulated growth hormone (GH) were measured to investigate the endocrine aspects of the syndrome. Mutation analysis was carried out in all six exons and exon-intron boundaries of SLC29A3 by direct sequencing. RESULTS: Physical examination of the patients revealed common charac-teristic findings of H syndrome. Additional clinical findings were sectorial iris atrophy in the younger sister. Laboratory evaluation revealed microcytic anaemia, markedly increased erythrocyte sedimentation rate and C-reactive protein levels, and humoral immune deficiency in the younger siblings, who presented with recurrent fever and sinopulmonary infection. Two different GH stimulation tests revealed GH deficiency in the younger sister with short stature. Liver and skin biopsies revealed polyclonal lymphohistiocytic and plasma cell infiltration. Sequencing of SLC29A3 in the three siblings revealed a novel homozygous mutation in exon 6, which caused the transition of arginine to tryptophan. CONCLUSION: This study not only extended the clinical and mutation spectrum of SLC29A3 in H syndrome, but also showed that short children should be assessed according to the guidelines for short stature in children.

Ahmed glaucoma valve implantation versus suprachoroidal silicone tube implantation following the injection of bevacizumab into the anterior chamber in patients with neovascular glaucoma.

PURPOSE: This study compared the efficacy and safety of Ahmed glaucoma valve (AGV) implantation versus suprachoroidal silicone tube (SST) implantation after the injection of bevacizumab into the anterior chamber in patients with neovascular glaucoma. METHODS: Patients were randomly assigned to undergo AGV or SST implantation. Bevacizumab was injected into the anterior chamber at a dosage of 1.25 mg/0.1 mL, 1 week before surgery. Intraocular pressure (IOP) control, complication, and success rates were compared between the groups. Success was defined as a final IOP > 5 mmHg, < 22 mmHg with or without any antiglaucoma drug. RESULTS: A total of 23 patients were enrolled in the study, including 13 (56.5%) in the AGV group (group 1) and 10 (43.5%) in the SST group (group 2). The mean baseline IOP was 42.0 ± 9.1 mmHg in group 1 and 39.5 ± 10 mmHg in group 2 (p > 0.05). The mean IOP was 16.9 ± 7.0 mmHg in group 1 and 12.5 ± 6.7 mmHg in group 2 on the first day after surgery. After a mean follow-up period of 19.4 ± 5.2 months, success was achieved in 12 (92.3%) patients in group 1 and in 1 (10%) patient in group 2. There was a statistically significant difference in terms of the success rate between groups (p < 0.05). Complications included hyphema in three (23%) patients, obstruction of the AGV tube by iris tissue in one (7.7%) patient, and tube exposure in one patient (7.7%) in group 1. Suprachoroidal silicone tube dislocation to the anterior chamber was observed in one (10%) patient in group 2. CONCLUSION: AGV implantation after the injection of bevacizumab into the anterior chamber had a higher success rate than SST implantation. Complications were seen more frequently in the AGV group.

SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.

BACKGROUND: Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. CASE PRESENTATION: We performed direct nucleotide sequencing analysis of exons and exon-intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon-intron boundary regions, c.1076 + 3A > C and c.1772 - 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner's syndrome. CONCLUSIONS: We identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 - 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon-intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proband.