The distribution of PIDs was different from that reported in Western countries, with a particularly high proportion of Combined Immunodeficiencies and phagocyte defects in number and/or function. More is needed to improve PID diagnosis and treatment in our country.

Abnormalities of coagulation and fibrinolysis were studied in a group of 28 children and young adults with homozygous sickle cell disease (SCD), either in the steady state (n = 12) or during painful crisis (n = 16). Coagulation was explored by standard clotting tests and by measurement of prothrombin complex factors, factor VIII (VIII:C) and antithrombin III (ATIII), protein C (PC) and protein S (PS) activities, while fibrinolytic potential was evaluated using D-dimer, tissue plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1) assays. In SCD patients, thrombin time (TT) was constantly shortened, both in the steady state (ratio to control 0.83 +/- 0.08, p < 0.0001) and in crisis (0.76 +/- 0.06, p < 0.0001). Mean levels of prothrombin complex were similar in asymptomatic patients to those in controls, but were significantly decreased during sickle cell crisis (p < 0.05 for factor V and p < 0.0001 for factors II, VII and X). Factor VIII:C was significantly increased, both in the steady state (207 +/- 35%, p < 0.0001) and during crisis (208 +/- 34%, p < 0.0001). PS activity was reduced int he steady state (81 +/- 12%, p < 0.01) and further diminished in crisis (68.5 +/- 27.5%, p < 0.001), while D-dimers were significantly elevated during sickle cell crisis (1028 +/- 675 ng/ml, p < 0.001). In all SCD patients, baseline levels of t-PA antigen were comparable to those in controls, whereas concentrations of PAI-1 antigen were significantly increased, either in the steady state (89.7 +/- 26.3 ng/ml, p < 0.0001) or in crisis (75.0 +/- 24.8 ng/ml, p < 0.0001). These results provide evidence for the presence of circulating activated clotting factors in SCD and for an imbalance of the profibrinolytic and antifibrinolytic systems most likely due to increased PAI-1 levels.

Pyridoxine-dependent epilepsy (PDE) is a pharmacoresistant epileptogenic encephalopathy controlled by pyridoxine supplementation at pharmacological doses. Despite supplementation, the long-term outcome is often poor possibly because of recurrent seizures and developmental structural brain abnormalities. We report on five patients with PDE from three unrelated families. The diagnosis was confirmed by ALDH7A1 sequencing, which allowed for the characterization of two homozygous variations [NM_001182.3:c.1279G > C - p.(Glu427Gln) and c.834G > A - p.(Val278Val)]. Brain autopsy was conducted for one untreated patient with molecularly confirmed antiquitin deficiency. Macroscopic and histological examination revealed a combination of lesions resulting from recurrent seizures and consisting of extensive areas of cortical necrosis, gliosis, and hippocampic sclerosis. The examination also revealed developmental abnormalities including corpus callosum dysgenesis and corticospinal pathfinding anomalies. This case is the second to be reported in the literature, and our findings show evidence that antiquitin is required for normal brain development and functioning. Despite prophylactic prenatal pyridoxine supplementation during the last trimester of pregnancy in one of the three families and sustained pyridoxine treatment in three living patients, the clinical outcome remained poor with delayed acquisition of neurocognitive skills. Combined therapy (pyridoxine/arginine supplementation and lysine-restricted diet) should be considered early in the course of the disease for a better long-term outcome. Enhanced knowledge of PDE features is required to improve treatment strategies.

The Bacille Calmette-Guérin vaccination (BCG) contributed widely to reduce tuberculosis incidence in developing countries. The aim of this report was to assess the clinical "spectrum" and outcome of tuberculous meningitis in 16 Bacille Calmette-Guérin-vaccinated Tunisian children. They were 9 boys and 7 girls aged 2 to 168 months (median 72 months ± 65.88). Patients presented mainly with nonspecific symptoms. Neurologic severity was classified as grade I (n = 6) and grade II or III (n = 10). At short-term course, the majority of patients developed serious complications: hydrocephalus (n = 12), seizures (n = 8), tuberculoma (n = 6), and acute respiratory failure (n = 2). Three patients died. Among survivors, 4 patients showed a complete recovery while 9 developed permanent sequelae which were mild (n = 6) to severe (n = 3). Despite the Bacille Calmette-Guérin vaccination, tuberculous meningitis remains a life-threatening condition; vaccinated children have shown common presentation of tuberculous meningitis in terms of severity and poor outcome.

Background and aims Type 1 diabetes (T1D) is an autoimmune disease that results from the progressive and selective destruction of pancreatic beta cells. Trace elements have a key role as well as in adaptive immunity in inflammatory processes. The aim of this study was to measure circulating levels of Zinc (Zn), Copper (Cu), and protein fractions in patients with T1D. Methods Sixty (60) subjects aged less than 15 years, divided into two similar groups (30 with recently type 1 diabetes and 30 controls) were recruited in the Department of Paediatrics of Tlemcen University Hospital. Zinc and copper were measured by polarimetry. The protein fractions were measured by zone electrophoresis on cellulose acetate (PFIC, serum protein electrophoresis) (HELENA, USA). Results Serum Zn and Cu levels were significantly elevated in type 1 diabetes compared with controls (respectively, p = 0.001, p = 0.002). 0,05)." >However, the percentage of alpha -1, alpha -2, beta and gamma globulins, and the total rate of serum globulins were identical in the two groups (p > 0.05). Conversely, the percentage of albumin and albumin/globulin ratio were significantly decreased in type 1 diabetes compared with controls (p < 0.01 and p < 0.05, respectively). Conclusion Disorders Zn and Cu could be significant immunological abnormalities and inflammatory signs at the beginning of the installation of T1D. Background and aims To assess the levels of lipid peroxidation and circulating levels of nitric oxide (NO), lipoproteins and immunoglobulins in type 1 diabetes children. Methods Thirty (30) type 1 diabetic patients newly diagnosed and 30 healthy control subjects, comparable for age (less than 15 years), sex and body mass index (BMI) were recruited in the Department of Paediatrics in the Mother and Child Hospital of Tlemcen. Lipid peroxidation was assessed by measuring the levels of malondialdehyde (MDA, CH2 (CHO) 2) using the thiobarbituric acid (TBA). The serum NOx (nitrate and nitrite, NOx [NO2-, NO3-]) was measured as an indirect marker of the formation of NO in vivo by the Griess method. Lipoproteins were measured by ultrasensitive gel electrophoresis (SEBIA, France). PO-0052 NITRIC OXIDE, IMMUNOGLOBULINS AND LIPID Immunoglobulins were determined by the radial immunodiffusion technique (IDR).Results Circulating levels of MDA and NO production were significantly higher in type 1 diabetic patients compared to controls (respectively, p = 0.001, p = 0.01). This was also the same for immunoglobulins A, G and M (for all comparisons, p < 0.01). Circulating levels of alpha lipoprotein and Lp (a) were similar in both groups (p > 0.05); however, those of the pre-beta and beta lipoproteins were significantly increased in patients compared to controls (respectively, p = 0.039, p = 0.018). Conclusion The onset of the DT1 is associated with nitrogen stress and oxidation of circulating lipids. Also, the excessive formation of NO and MDA may be the result of inflammatory conditions associated with the autoimmune disease process. PO-0053 HEALTH AFFECTING BEHA...