Topical Nepafenac in Treatment of Acute Central Serous Chorioretinopathy

This study had been performed to investigate the anatomic and functional outcomes of nepafenac 0.1% therapy in acute central serous chorioretinopathy (CSC). The medical records of 30 patients with acute CSC were reviewed for a total of 31 eye charts. Seventeen eye records of 16 patients who were treated with topical nepafenac 0.1% three times daily for four weeks and continued until complete resolution of subretinal fluid were appraised. Fourteen patients with acute CSC (a total of 14 eye records) who did not receive treatment served as the control group also had been recorded. The proportion of eyes with complete resolution of subretinal fluid, serial changes in the mean best corrected visual acuity (BCVA), and the mean central foveal thickness (CFT) at 6 months of therapy were the outcomes measured. Mean age was 42.6±8.2 years in the treatment group and 41.1±7.1 years in the control group (p=0.85). At 6 months, 14 eyes (82.3%) in the treatment group and 6 eyes (42.8%) in the control group revealed a complete resolution in the subretinal fluid (p=0.02). In the treatment group, mean BCVA (LogMAR) significantly improved from 0.19±0.17 at baseline to 0.09±0.12 at 6 months (p=0.01). In the control group, mean BCVA (LogMAR) was 0.13±0.14 at baseline and decreased to 0.1±0.11 at 6 months (p=0.28). In the treatment group, mean CFT was 349±115 µm at baseline and significantly improved to 221±95 µm at 6 months (p<0.01). In the control group, mean CFT declined from 391±138 µm at baseline to 301±125 µm at 6 months (p=0.06). No treatment-related ocular or systemic side effects were observed. In conclusion, nepafenac 0.1% has the potential to treatment acute CSC. Further trials are warranted to study its safety and efficacy for this disease

Topical Nepafenac in Treatment of Acute Central Serous Chorioretinopathy

This study had been performed to investigate the anatomic and functional outcomes of nepafenac 0.1% therapy in acute central serous chorioretinopathy (CSC). The medical records of 30 patients with acute CSC were reviewed for a total of 31 eye charts. Seventeen eye records of 16 patients who were treated with topical nepafenac 0.1% three times daily for four weeks and continued until complete resolution of subretinal fluid were appraised. Fourteen patients with acute CSC (a total of 14 eye records) who did not receive treatment served as the control group also had been recorded. The proportion of eyes with complete resolution of subretinal fluid, serial changes in the mean best corrected visual acuity (BCVA), and the mean central foveal thickness (CFT) at 6 months of therapy were the outcomes measured. Mean age was 42.6±8.2 years in the treatment group and 41.1±7.1 years in the control group (p=0.85). At 6 months, 14 eyes (82.3%) in the treatment group and 6 eyes (42.8%) in the control group revealed a complete resolution in the subretinal fluid (p=0.02). In the treatment group, mean BCVA (LogMAR) significantly improved from 0.19±0.17 at baseline to 0.09±0.12 at 6 months (p=0.01). In the control group, mean BCVA (LogMAR) was 0.13±0.14 at baseline and decreased to 0.1±0.11 at 6 months (p=0.28). In the treatment group, mean CFT was 349±115 µm at baseline and significantly improved to 221±95 µm at 6 months (p<0.01). In the control group, mean CFT declined from 391±138 µm at baseline to 301±125 µm at 6 months (p=0.06). No treatment-related ocular or systemic side effects were observed. In conclusion, nepafenac 0.1% has the potential to treatment acute CSC. Further trials are warranted to study its safety and efficacy for this disease

Comparison of alpha/beta T cell depletion with posttransplant cyclophosphamide in haploidentical transplantation

Aim: To compare alpha/beta T-cell depletion with posttransplant Cyclophosphamide (PTCy) in haploidentical allogeneic transplantation in adult hematological patients, this is the first study. Method: In our study, we reported 36 haploidentical allogeneic stem cell transplants which were performed in our clinic. Results: Twenty-six of these haploidentical transplants received standard treatment and transplanted either with PTCy (n=21, 81%) or with alpha/beta T-cell depletion (n=5, 19%). Less CD34+ stem cells were administered in the T-cell depletion group. When the two groups were compared in terms of survival, no difference was found in relapse-free and overall survival in each group. Acute GVHD cases developed in the PTCy group mostly developed after CMV infection, whereas acute GVHD did not develop in the T-cell depletion group. In the PTCy group, 8 cases developed graft failure and relapse; 4 cases developed graft failure or relapse in the T-cell depletion group, and 2 of them developed graft failure or relapse following EBV infection and 1 of them following CMV infection. Conclusion: We have a small number of patients in the T cell depletion group. Due to our long follow-up period, we believe that our patients with T cell depletion can be compared with those who underwent PTCy, and similar survival results can be achieved in adult patients having hematologic malignancies

Primary catastrophic antiphospholipid syndrome in an 8 year-old girl

Antiphospholipid syndrome (APS) is a disease characterized by recurrent arterial and venous thromboses. Rapidly progressive multiple thromboses leading to multiorgan failure occur in less than 1% of patients and named as catastrophic antiphospholipid syndrome (CAPS). We, hereby, describe an 8 year-old-girl with erythematous skin lesions progressing into purpura fulminans. The patient developed CAPS with the findings including proteinuria, microangiopathic hemolytic anemia, thrombocytopenia, arterial and venous thromboses demonstrated on skin biopsies. She was admitted to intensive care unit and received empirical antibiotics, anticoagulants, antiaggregants, steroids and intravenous immunoglobulins. The diagnosis of APS was confirmed by positive lupus anticoagulants, elevated anti beta-2 glycoprotein IgG and antiphospholipid IgG titers. Moreover, other than MTHFRA1298C, MTHFR-C677T, factor V H1299R, beta fibrinogen-455 G>A heterozygosity indicating low risk for thrombophilia, no infectious, rheumatological or malignant etiologies were identified. Family history revealed Raynaud’s phenomenon in a sister, interstitial lung disease, proteinuria and hematuria in paternal grandmother in addition to lupus anticoagulant positivity in father and 2 elder sisters. Her treatment included debridement of necrotic skin tissue, grefting and local mesenchymal stem cell application to upper thigh and lower leg region following oral azathioprine administration

Clinical Study The Role of Epiretinal Membrane on Treatment of Neovascular Age-Related Macular Degeneration with Intravitreal Bevacizumab

. Purpose. To determine the effect of epiretinal membranes (ERM) on the treatment response and the number of intravitreal bevacizumab injections (IVB) in patients with neovascular age-related macular degeneration (nAMD). Methods. A retrospective chart review was performed on 63 eyes of 63 patients. The patients were divided into AMD group ( = 35) and AMD/ERM group ( = 28). Best corrected visual acuity (BCVA) and central retinal thickness (CRT), as well as the number of injections, were evaluated. Results. There was a significant improvement in BCVA at 3 months for the AMD and AMD/ERM groups ( = 0.02, = 0.03, resp.). At 6, 12, and 18 months, BCVA did not change significantly in either of the groups compared to baseline ( > 0.05 for all). At 3, 6, 12, and 24 months, the AMD group had an improvement in BCVA (logMAR) of 0.09, 0.06, 0.06, and 0.03 versus 0.08, 0.07, 0.05, and 0.03 for the AMD/ERM group ( = 0.29, = 0.88, = 0.74, = 0.85, resp.). A significant decrease in CRT occurred in both groups for all time points ( < 0.001 for all). The change in CRT was not statistically different between the two groups at all time points ( > 0.05 for all). The mean number of injections over 24 months was 8.8 in the AMD group and 9.2 in the AMD/ERM group ( = 0.76). Conclusion. During 24 months, visual and anatomical outcomes of IVB in nAMD patients were comparable with those in nAMD patients with ERM with similar injection numbers

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

Polymerase δ is essential for eukaryotic genome duplication and synthesizes DNA at both the leading and lagging strands. The polymerase δ complex is a heterotetramer comprising the catalytic subunit POLD1 and the accessory subunits POLD2, POLD3, and POLD4. Beyond DNA replication, the polymerase δ complex has emerged as a central element in genome maintenance. The essentiality of polymerase δ has constrained the generation of polymerase δ-knockout cell lines or model organisms and, therefore, the understanding of the complexity of its activity and the function of its accessory subunits. To our knowledge, no germline biallelic mutations affecting this complex have been reported in humans. In patients from 2 independent pedigrees, we have identified what we believe to be a novel syndrome with reduced functionality of the polymerase δ complex caused by germline biallelic mutations in POLD1 or POLD2 as the underlying etiology of a previously unknown autosomal-recessive syndrome that combines replicative stress, neurodevelopmental abnormalities, and immunodeficiency. Patients' cells showed impaired cell-cycle progression and replication-associated DNA lesions that were reversible upon overexpression of polymerase δ. The mutations affected the stability and interactions within the polymerase δ complex or its intrinsic polymerase activity. We believe our discovery of human polymerase δ deficiency identifies the central role of this complex in the prevention of replication-related DNA lesions, with particular relevance to adaptive immunity.</p

Monocyte-to-HDL-cholesterol ratio is associated with Ascending Aorta Dilatation in Patients with Bicuspid Aortic Valve

Background: The importance of monocyte count-to-HDL-cholesterol ratio (MHR) in cardio- vascular diseases has been shown in various studies. Ascending aortic dilatation (AAD) is a common complication in the patients with bicuspid aortic valve. In this study, we aimed to investigate the relationship between MHR and the presence of aortic dilatation in the patients with bicuspid aortic valve. Methods: The study population included totally 347 patients with bicuspid aortic valve.169 patients with aortic dilatation (ascending aorta diameter 65 4.0 cm) and 178 patients with no aortic dilatation. Echocardiographic and laboratory measurement was done and compared between groups. Results: The mean age of the participants was 44.7 \ub1 15.4 years and average ascending aorta diameter was 3.2 \ub1 0.3 cm in dilatation negative group and 4.4 \ub1 0.4 cm in positive group. MHR was significantly increased in in patients with aortic dilatation. MHR and uric acid level was independently associated with the presence of aortic dilatation in the patients with bicuspid aortic valve. Conclusion: We found a significant relationship between MHR and aortic dilatation in the patients with bicuspid aortic valve

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced transcriptional activity of pathogenic variants confirmed partial or complete PAX1 deficiency. Thymic aplasia and hypoplasia were associated with impaired T cell immunity. Corrective treatment was required in 4/6 patients. Hematopoietic stem cell transplantation resulted in poor immune reconstitution with absent naïve T cells, contrasting with the superior recovery of T cell immunity after thymus transplantation. Normal ex vivo differentiation of PAX1-deficient CD34+ cells into mature T cells demonstrated the absence of a hematopoietic cell-intrinsic defect. New overlapping features with DiGeorge syndrome included primary hypoparathyroidism (n = 5) and congenital heart defects (n = 2), in line with PAX1 expression during early embryogenesis. Our results highlight new features of PAX1 deficiency, which are relevant to improving early diagnosis and identifying patients requiring corrective treatment