No abstract

FMF is the leading cause of secondary amyloidosis in Turkey, followed by tuberculosis. Oedema accompanied by proteinuria is the most prominent presenting finding, and hypotension seems to be common among these patients.

Background Sleep-related disorders are among the important risk factors for neurovascular diseases. Obstructive sleep apnea syndrome (OSAS) is characterized by snoring, excessive daytime sleepiness, and insomnia. Our aim was to investigate the presence of glaucoma in patients with OSAS and to reveal vascular pathology related to the pathogenesis of glaucoma in those patients. Patients and methods The study included 31 patients with OSAS and 25 control subjects. Orbital Doppler ultrasonography was used to determine the resistivity index (RI) in the ophthalmic artery and central retinal artery. All patients and controls underwent perimetric examination. Results The prevalence of glaucoma in the group of patients with OSAS was 12.9% (4/31); all of these 4 patients with glaucoma were in the "severe" OSAS group. No statistically significant difference was found between ophthalmic artery resistivity index (OARI), central retinal artery resistivity index (CRARI), and intraocular pressure (IOP) between patients and controls (p>0.05). There was a positive correlation between OARI and mean defect (MD), CRARI and MD, and CRARI and loss variance (LV) values (p<0.05). There was also a positive correlation between IOP and the apnea-hypopnea index (AHI) (p=0.001). Conclusions In patients with OSAS, a high prevalence was found and it is interesting to note that all of the four glaucoma patients were in the severe OSAS group. The positive correlation observed between IOP and AHI suggests that increased IOP values may reflect the severity of OSAS. The positive correlation between OARI and MD and also between CRARI and MD as well as LV suggests that visual field defects may be due to optic nerve perfusion defects and these field defects also increase as the RI increases.

BackgroundThis prospective clinical case series aimed to investigate the safety of subretinal adipose tissue-derived mesenchymal stem cell (ADMSC) implantation in advanced stage retinitis pigmentosa (RP).MethodsThis study included 11 patients with end-stage RP who received subretinal implantation of ADMSCs. All patients had a total visual field defect and five of them only had light perception. The best corrected visual acuity (BCVA) in the study was 20/2000. All patients had undetectable electroretinography (ERG). The worst eye of the patient was operated on and, after total vitrectomy with a 23 gauge, ADMSCs were injected subretinally. Patients were evaluated at day 1, at weeks 1–4, and then once a month for 6 months, postoperatively. BCVA, anterior segment and fundus examination, color photography, and optical coherence tomography (OCT) were carried out at each visit. Fundus fluorescein angiography (FFA), perimetry, and ERG recordings were performed before treatment and at the end of month 6, and anytime if necessary during the follow-up.ResultsAll 11 patients completed the 6-month follow-up. None of them had systemic complications. Five patients had no ocular complications. One of the patients experienced choroidal neovascular membrane (CNM) at the implantation site and received an intravitreal anti-vascular endothelial growth factor drug once. Five patients had epiretinal membrane around the transplantation area and at the periphery, and received a second vitrectomy and silicon oil injection. There was no statistically significant difference in BCVA and ERG recordings from baseline. Only one patient experienced an improvement in visual acuity (from 20/2000 to 20/200), visual field, and ERG. Three patients mentioned that the light and some colors were brighter than before and there was a slight improvement in BCVA. The remaining seven patients had no BCVA improvement (five of them only had light perception before surgery).ConclusionsStem cell treatment with subretinal implantation of ADMSCs seems to have some ocular complications and should be applied with caution. The results of this study provide the first evidence of the short-term safety of ADMSCs in humans, and clarifies the complications of the therapy which would be beneficial for future studies. To optimize the cell delivery technique and to evaluate the effects of this therapy on visual acuity and the quality of life of these patients, future studies with a larger number of cases will be necessary.

The podocin (NPHS2) gene encodes podocin protein, which has an important role in glomerular ultrafiltration and controlling slit membrane permeability. The detection of an NPHS2 mutation affects the treatment plan for children with nephritic syndrome (NS). The frequency and spectrum of podocin mutations in the Turkish population have remained largely unknown. The aim of this study was to screen for podocin mutations in Turkish patients with steroid-resistant NS (SRNS) and to compare it with other published series. There were 295 children with SRNS, originating from Turkey, included in this study. Forty-one patients (13.8%) had familial NS and 254 patients (86.2%) had sporadic NS. Mutation analysis was performed in all eight exons of the NPHS2 gene with the direct DNA sequencing method. There were 53 different pathogenetic NPHS2 mutations detected, including 37 novel mutations. The mutation detection rate was 24.7% for all patients, 29.2% for familial, and 24% for sporadic SRNS. The most common mutated exon was exon 5 (52 allele). The presence of mutations in exon 4 was found to increase the risk of end-stage renal disease (ESRD). Among patients with mutations, the rates of renal failure and/or ESRD (26%) were significantly higher than in those without mutations (12.6%). The mean time of progression to renal failure and ESRD in patients with mutations (1.8 +/- 2.5 years) was significantly shorter than in patients without mutations (3.7 +/- 4.0 years). Additionally, in patients with heterozygote mutations, fewer cases (13.6%) progressed to renal failure and/or ESRD than in with patients who had homozygote/compound heterozygote mutations (31.3%). In conclusion, podocin mutations are responsible for some of both familial and sporadic SRNS cases in Turkey. The mutations in this gene should be searched for in every child after presentation with the first episode of NS.