Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.

Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shed light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3'UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetics variations affect RNA transcription and mRNA folding.

Neuromeningeal cryptoccocosis revealing IgA-λ multiple myeloma.

Cryptococcosis is an opportunistic fungal infection that is commonly associated with an immune-compromised state. Cases of cryptococcosis have rarely been reported in patients with multiple myeloma (MM). However, cryptococcosis as a presenting symptom of MM has never been reported. We presented here a case of neuromeningeal cryptococcosis in a patient without underlying diseases, who has revealed IgA-λ MM. Early detection and treatment of cryptococcosis are essential to reduce morbidity.

The Association of IL-6, TNFα and CRP Gene Polymorphisms with Coronary Artery Disease in a Tunisian Population: A Case-Control study.

Coronary artery disease is an inflammatory disease. Systemic markers of inflammation such as Interleukin-6, Tumor Necrosis Factor alpha and C-reactive protein have previously been shown to be associated with increased risk of cardiovascular events. The aim of the present study is to assess the role of variants in the IL-6 (- 174 G/C), TNFα (- 308 A/G) and CRP (+ 1059G/C) genes as susceptibility markers for CAD in a Tunisian population. The investigation was conducted as a case-control study involving 204 patients and 400 age-gender matched controls. Genotyping was performed using polymerase chain reaction and restriction fragment length polymorphism analysis. There are significant differences between CAD patients and the control group with regard to BMI (p < 10-3) and family history of CAD (p < 10-3). The CAD patients are more likely to have a history of smoking (p < 10-3), have a higher value of TC (p = 0.003), LDLc (p = 0.016), hs-CRP (p = 0.01), IL6 (p < 10-3) and TNFα (p = 0.038). Our analysis showed significant differences between cases and controls in genotypic distribution of IL6-174CC (p = 0.003; OR = 7.71 CI (1.58-37.56)), TNFα - 308 AA (p = 0.004; OR = 2.95 (1.57-5.51)) and CRP + 1059 CC (p < 10-3; OR = 5.40 (2.30-12.68)). However, we failed to find an association between the different genotypes and the inflammatory markers levels. Our results suggest that the presence of IL-6 (- 174 G/C), TNFα (-308 A/G) and CRP (+ 1059G/C) polymorphisms, may be considered to be a risk factor for CAD in Tunisian population.