Optic Nerve Sheath Fenestration for Papilledema Due to Cerebral Venous Sinus Thrombosis Associated with Antiphospholipid Syndrome: A Case Report.

BACKGROUND Cerebral venous sinus thrombosis (CVST) is a serious life- and vision-threatening condition that can have a variable presentation according to the site of venous occlusion, including mimicking idiopathic intracranial hypertension. We report on a patient with primary antiphospholipid antibody syndrome (APS) who presented with papilledema due to CVST that was refractory to medical treatment but responded to optic nerve sheath fenestration (ONSF). CASE REPORT A 21-year-old man presented with blurred vision of gradual onset and a progressive course for 1 month, accompanied by fever, headache, and confusion. He had a history of lower-limb deep vein thrombosis. Examination revealed decreased vision with bilateral grade IV papilledema. Magnetic resonance venography showed evidence of CVST and laboratory investigations revealed lupus anticoagulant antibodies, antinuclear antibodies, and anti-double stranded DNA antibodies, with hyperhomocysteinemia. The patient did not meet the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus (SLE) nor the new European League Against Rheumatism and American College of Rheumatology SLE classification criteria. He was diagnosed with CVST secondary to APS and hyperhomocysteinemia and treated with acetazolamide, systemic anticoagulation, and vitamins for 1 month, but with no improvement in his ophthalmic condition. He subsequently underwent unilateral ONSF, which resulted in improvement in vision bilaterally that continued throughout a 6-month follow-up period. CONCLUSIONS Papilledema associated with CVST can be the first presentation of APS. When performed in a timely manner, ONSF can save useful vision and lead to improvement in vision in patients with papilledema due to CVST that is refractory to medical treatment.

Immunoregulatory cytokines gene polymorphisms in Egyptian patients affected with acquired aplastic anemia.

The immune system is thought to play an important role in aplastic anemia (AA) in light of recent findings of hematologic reconstitution after immunosuppressive therapy. T cell activation, apoptosis, and the cytokines interferon- and TNF-α are suspected to play a role in the suppression of growth of progenitor cells and induced apoptosis in CD34 target cells, TGFß is a multifunctional peptide, usually produced in latent form and requiring activation to produce a biological response. Also, TGF-ß1 has been described as an important negative regulator of haemopoiesis. Over production of IL-6 is described in AA but is of unknown pathophysiological significance. To investigate the role of cytokine gene polymorphisms (IL-6/-174, TNF-α/-308, IFN-γ/+874, and TGFß1/-509) in patients with acquired AA to assess if genotypes associated with higher or lower production were more prevalent than in established control population and to study the possible association of these genotypes with the disease severity. Fifty AA patients were included in this study. Polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique was used to detect INF-γ single nucleotide polymorphism -874A/T, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to assess IL-6-174 C/G, TNF-α-308G/A, and TGFb1-509C/T gene polymorphisms. Genotypes associated with high production of TNF-α, TGF-ß and IFN-γ, and IL-6 were more frequent in patients than in control; no association was found between the presence of hypersecretory genotypes and the disease severity.

Association between the monocyte chemoattractant protein-1 -2518G/A gene polymorphism and acute myocardial infarction patients among Egyptian population.

The aim of the present study was to investigate the possible association between the -2518G/A polymorphism of the monocyte chemoattractant protein-1 (MCP-1) gene and acute myocardial infarction (MI) in a sample of the Egyptian population. A total of 30 Egyptian patients with coronary artery disease (CAD) manifested as acute myocardial infarction (MI) for the first time and 25 unrelated healthy control individuals were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The proportion of G/A and G/G genotypes were significantly higher in the acute MI group than the control group (P < 0.05). The acute MI patients group showed a significant higher frequency of the G allele compared to the controls (P < 0.05). Analysis of the relationship between the G/A, G/G genotypes and A/A genotype acute MI group regarding the conventional risk factors showed statistical significant difference regarding age, total cholesterol, low-density lipoprotein and high-density lipoprotein (P < 0.05), but there was no significant relationship regarding sex, smoking, history of diabetes mellitus, hypertension, obesity, body mass index (BMI) and triglyceride, but we observed that the percentage of men was higher than the percentage of women in both G/A, G/G genotypes and A/A genotype acute MI patients. Also, among our patients, the percentage of smokers, diabetics, hypertensive, and obesity and the mean of BMI and triglyceride were higher in the G/A, G/G genotypes acute MI patients than that in A/A genotype acute MI patients. In conclusion, our study indicated that there was a significant association between the MCP-1 -2518G/A polymorphism and acute MI in the Egyptian population, but this significant association is dependent on the presence of MI risk factors.