CETP activity is not associated with carotid intima-media thickness in patients with poorly controlled type 2 diabetes.

AIM: The impact of cholesteryl ester transfer protein (CETP) on atherosclerotic development in humans remains unclear. Plasma cholesteryl ester transfer was shown to be associated with carotid intima-media thickness in type 2 diabetic (T2D) patients with adequate metabolic control. Since glycation of CETP may influence cholesteryl ester transfer processes, it is important to determine if plasma cholesteryl ester transfer is still a determinant of carotid intima-media thickness (IMT) in patients with poorly controlled diabetes. The aim of the present study was to determine whether CETP activity influences carotid IMT in T2D patients with poor metabolic control. METHODS: In 110 individuals with T2D, we measured CETP mass concentration with ELISA, CETP activity with a radioactivity method and carotid intima-media thickness with high-resolution real-time B-mode ultrasonography. RESULTS: The mean HbA1C was 8.8 ± 1.7%. Carotid IMT did not correlate with CETP activity in the total population. In T2D patients with HbA1C < 8% (n = 33), mean HbA1C was 6.9% and the correlation between carotid IMT and CETP activity was not significant (p = 0.09). In a multivariable analysis that included the total population, carotid intima-media thickness was positively associated with diabetes duration (p = 0.02) but not with CETP activity or HbA1C. CONCLUSIONS: We observed no correlation between carotid intima-media thickness, a marker of early atherosclerosis, and CETP activity in T2D patients with poor metabolic control. Disease duration, which reflects accumulated metabolic abnormalities, may have blunted the potential effect of CETP on atherosclerosis. Metabolic control appears essential to determine the pro- or anti-atherogenic influence of CETP in patients with T2D.

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.

The acidic fibroblast growth factor (FGF) intracellular binding protein (FIBP) interacts directly with the fibroblast growth factor FGF1. Although FIBP is known to be implicated in the FGF signaling pathway, its precise function remains unclear. Gain-of-function variants in several FGF receptors (FGFRs) are implicated in a wide spectrum of growth disorders from achondroplasia to overgrowth syndromes. In a unique case from a consanguineous union presenting with overgrowth, macrocephaly, retinal coloboma, large thumbs, severe varicose veins and learning disabilities, exome sequencing identified a homozygous nonsense FIBP variant. The patient's fibroblasts exhibit FIBP cDNA degradation and an increased proliferation capacity compared with controls. The phenotype defines a new multiple congenital abnormalities (MCA) syndrome, overlapping with the heterogeneous group of overgrowth syndromes with macrocephaly. The different clinical features can be explained by the alteration of the FGFR pathway. Taken together, these results suggest the implication of FIBP in a new autosomal recessive MCA.

[Venous thromboembolism in the elderly: Results of a program to improve prevention]. / Maladie thromboembolique veineuse chez la personne âgée : résultat d'un programme d'amélioration de la qualité de la prévention.

INTRODUCTION: Venous thromboembolism is highly prevalent in the elderly population. However, this age group often receives inadequate thromboprophylaxis because of concerns about bleeding risk, denying patients the benefit of proven antithrombotic regimens. Besides, there is a lack of data in non-surgical patients in postacute care facilities. METHODS: A multifaceted intervention program addressing venous thromboembolism prophylaxis has been conducted and evaluated in 50 postacute care facilities. Data were collected in two cross-sectional, epidemiologic studies of 1664 patients aged 65 years or older, including a systematic venous complete compression ultrasound. RESULTS: Despite the fact that 56% of patients received pharmacologic prophylaxis, the prevalence of asymptomatic deep venous thromboses (DVT) was 15%. Specific risk factors in this population have been identified: dependence in basic activities of daily living (ADLs), a higher timed Up and Go test score and the presence of pressure ulcers. Implantation of a multifaceted program was followed by a reduction in DVT prevalence (OR=0.58, CI95%, 0.40-0.83). Implication of nurses and physical therapists was associated with an increase in patient's mobilization (62% versus 37%, p<0.01). Nevertheless, we were unable to find any efficacy of medical compression in venous thomboembolism prevention for medical patients. CONCLUSION: This project shows the high prevalence of venous thromboembolism in postacute care facilities and enhances the need for a multidisciplinary approach to this disease.

["Spontaneous" rupture of the left iliac vein complicating Cockett's syndrome]. / Rupture "spontanée" de la veine iliaque gauche compliquant un syndrome de Cockett.

The case history reported concerns a female patient aged 42 years for whom the clinical picture was that of a blue phlebitis (phlegmatia caerulea dolens), associated with a state of shock evoking a severe pulmonary embolus. The absence of echocardiographic dilatation of the right cavities, and the appearance of a left iliac fossa mass, steered the diagnosis towards internal haemorrhage. Emergency laparotomy allowed diagnosis and treatment of a so-called spontaneous rupture of the left iliac vein, a rare condition for which 20 cases have been reported in the literature. Re-operation performed 24 hours afterwards for the absence of venous return allowed the discovery of Cockett's syndrome with ascending thrombosis, requiring cross-venous bypass associated with the creation of an arterio-venous fistula in order to maintain permeability. One year afterwards the appearance of signs of cardiac insufficiency led to the closure of this fistula.

[Four years followup of complicated Cockett syndrome treated by iliac vein endoprosthesis]. / Suivi à 4 ans des endoprothèses veineuses iliaques dans le syndrome de Cockett compliqué.

The purpose of this study was to check the long-term patency of the left common iliac vein endoprosthesis in Cockett syndrome and to confirm this appropriate etiological treatment in complicated cases. Three patients had respectively a pulmonary embolism, left common iliac vein occlusion with protein S deficiency, and venous claudication (Paget-von Schroetter syndrome) as complications of the Cockett syndrome. Treatment with endoprosthesis was performed. A mean follow-up of 48.6 months (31-61 months) revealed a clinical improvement without any recurrence of complications. The patency of the left common iliac vein flow was maintained. Indications on this treatment are being discussed.

Preoperative intraarterial thrombolysis before surgical revascularization for popliteal artery aneurysm with acute ischemia.

Because a popliteal artery aneurysm (PAA) generates emboli that progressively deteriorate the distal arterial network, they can constitute limb-threatening lesions. In 20 to 40% of cases, discovery of PAA coincides with sudden occlusion and resulting acute ischemia. In 40 to 60% of these patients, surgical revascularization fails and amputation is required. The objective of this prospective study was to assess the value of intraarterial thrombolysis to restore distal runoff before surgical revascularization. Between January 1, 1992 and December 31, 1996, we treated 15 PAA causing acute ischemia in 15 male patients with a mean age of 66.7 years (range, 44 to 87 years). Diagnosis was documented by clinical examination and ultrasound imaging. Intraarterial thrombolysis was performed under arteriographic control through a multiperforated catheter inserted by the anterograde femoral route to the thrombus. After an initial bolus of 100,000 U of urokinase, 600,000 to 1,600,000 U was continuously infused over a period of 6 to 18 hr. Heparin sodium was administered throughout thrombolysis. Surgical revascularization was performed within 1 to 4 days (mean, 2 days) after thrombolysis by exclusion and bypass in 14 cases and percutaneous transluminal angioplasty with stenting in 1 case. The ensuing results showed that, if performed carefully, intraarterial thrombolysis can safely prepare patients presenting with occluded PAA with acute ischemia for surgical revascularization to restore distal runoff. We use this combined technique routinely in our department. Morbidity is low in comparison with the risks of amputation.