Hyperhomocysteinemia, C677T MTHFR polymorphism and ischemic stroke in Tunisian patients

Hyperhomocysteinaemia has been identified as a strong risk factor for ischemic stroke [IS]. A point mutation in methylene tetrahydrofolate reductase [MTHFR C677T] has been associated with increased plasma homocysteine [Hcy] levels. This preliminary study aimed to investigate whether hyperhomocysteinaemia and/or MTHFR C677T mutation are associated with ischemic stroke. A case-control study including 50 consecutive patients with confirmed IS and 97 controls was performed. Fasting plasma homocysteine levels, MTHFR C677T genotypes were assessed. Other factors such as hypertension, obesity, dyslipidemia, diabetes mellitus, recurrent stroke tobacco and alcohol were investigated. Mean plasma homocysteine levels were significantly higher in IS patients than in controls [15.83 +/- 10.60] micro mol/L vs 13,78 +/- 6.29 micro mol/L, p=0.04], while no association of MTHFR C677T variant was observed even with homocysteine. The risk to develop ischemic stroke in hyperhomocysteinemic subjects was 2.4 times more than in subjects with normal Hcy levels [OR= 2.4; 95% CI: 1.13-5.06; p<0.05]. Our findings suggest that high levels of homocysteine but not MTHFR C677T polymorphism represent risk factors for arterial ischemic stroke in Tunisian subjects

[Factors influencing homocysteineamia in type 2 diapetic patients]

Previous studies have suggested that hyperhomocysteinaemia [Hcy] could be a strong and independent cardiovascular risk factor. Many factors could influence the serum concentration of Hcy such as vitamin B 12, folic acid, renal failure, hypothyroId status, ovarian failure and cancers. So the aim of our study was to evaluate the prevalence of hyperhomocysteinaemia among 54 type 2 diabetic patients and to study, its relationship with vitamin B 12, folic acid and Metformin. Were excluded all patients with an evident cause of hyperhomocysteinaemia. Mean age of patients was 52.8 years. Mean Hcy was 11,7 + 6,9 micro mol/l. The prevalence of hyperhomocysteinaemia was 27,8% in our group. There were eight [14%] patients with vitamin B 12 deficiency and three among them had hyperhomocysteinaemia There was no folic acid deficiency and no relationship with Metformin treatment. We suggest a wide screening of hyperhomocysteinaemia in type 2 diabetic patients and folic acid or vitamin B 12 supplements if necessary

[Homocysteinaemia and degenerative complications in non insulin dependent diabetes mellitus]

Type 2 diabetes mellitus [non insulin-dependent diabetes mellitus: NIDDM] is known to be associated with degenerative complications. Although, the pathophysiology of such complications is well known, the role of homocysteine [Hey] is still discussed.The aim of the present study was to evaluate the relationship between the homocysteine levels and the NIDDM related complications in a group of NIDDM patients. Our study population consisted of 41 NIDDM patients including 13 subjects [G1] without complications [group controls], 17 patients [G2] with microangiopathy and 11 patients [G3] with coronary deficiency. Plasmatic homocysteine, glycemia, glycated haemoglobin [HbAIC] and lipid parameters were assessed in all patients. Our results showed that mean levels of plasmatic homocysteine were within the normal range [10.4 +/- 3.3 micro mol/l, 9.9 +/- 5.5 micro mol/l and 14.8 +/- 10.4 micro mol/l in G1, G2 and G3 respectively]. Nevertheless, moderate hyperhomocysteinaemia was found in 36% in the coronary group [G3], 17.3% in patients with microangiopathy [G2] and 7.7% in controls.These preliminary results showed that cardiovascular complications in NIDDM patients may be related to high levels of homocysteine

[Autosomal dominant axonal Charcot-Marietooth disease associated to periodic paralyses and pyramidal syndrome: a new genetic entity]

We report the clinical and genetic linkage analysis of eight affected patients suffering from axonal form of Charcot-Marie-Tooth disease [CMT2] with periodic paralyses and pyramidal feature. The inheritance is autosomal dominant It was characterized by onset between the first and the second decade, distal weakness and atrophy of lower limbs. Four patients showed deep sensory loss; a periodic paralyses were also present in four patients. Genetic linkage excluded all known loci of CMT2 and other loci of clinical distinctive feature. Exclusion of these loci demonstred the distinctive phenotype of this family and assess the identification of a new genetic form

[Hyponatremies: clinical, prognostic and etiological aspects. About 4 observations]

Hyponatremia is defined as a plasmatic sodium level lower than 136 mmol/l it is a relatively frequent pathology and it is often discovered incidentally. The authors report 4 cases of hyponatremia illustrating the variety of mechanisms and the need for adapted treatments. The prognosis depends mostly on the etiology