Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report

Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating mutations that affect product function and result in the signs and symptoms of cystinosis.

The Impact of Cataract Surgery on Depression in Elderly Iranian Patients: A Case–Control Study

Background: Cataract-related vision impairment is clearly associated with depressive symptoms in old age. This study aimed to evaluate the effect of cataract surgery on depression among elderly Iranian patients. Methods: In this case–control study, a total of 113 elderly patients with and without cataract who were admitted to Buali-Sina Hospital in Sari, Mazandaran, Iran were evaluated. Ophthalmological examinations were first performed at the beginning of the study and then four months later; demographic and clinical characteristics were obtained for all patients. Additionally, depression was assessed using the Hospital Anxiety and Depression Scale (HADS) for all patients during the study period. Results: A statistically significant difference was found between the mean depression score in patients without cataract (3.28), patients with cataract surgery (3.74), and patients without cataract surgery (5.60) (P = 0.024). On the other hand, there was no statistically significant differences between the mean depression score in patients with cataract surgery and patients without cataract (P = 0.582). However, a statistically significant difference was observed between the mean depression score after cataract surgery in men (1.70) and women (4.94) (P < 0.001). Visual function improved in all bilateral cataract patients who had surgery in one eye. Also, the results of this study showed that in all unilateral cataract patients who had eye surgery, visual function in the left and right eyes improved. Conclusion: We conclude that depression is more prevalent in patients with cataract compared to those without cataract. In addition, cataract surgery seems to be associated with reduced depression and better visual acuity in elderly patients with cataract.

Identification of Antibodies Against Neutrophil Surface Antigens in Two Iranian Patients with Autoimmune Neutropenia

Autoimmune neutropenia is a type of immune-mediated neutropenia, caused by antibody-induced neutrophil destruction. Here, we report two cases (a 3-year-old boy and a 9-year-old girl) with suspected autoimmune neutropenia. The presence of neutrophil antibodies in the sera of these two patients was investigated; using standard neutrophil antibody screening tests such as granulocyte immunofluorescence test (GIFT), granulocyte agglutination test (GAT), and lymphocyte immunofluorescence test (LIFT). A positive reactivity with two-panel cells was found in GIFT. No reactivities with panel cells were observed in GAT and LIFT. To the best of our knowledge, this is the first report for detecting the neutrophil reactive antibodies; using genotyped neutrophils in patients with autoimmune neutropenia in Iran. The final diagnosis of our patients was primary autoimmune neutropenia for the boy and autoimmune neutropenia associated with familial Mediterranean fever for the girl.