Pseudoaneurysm formation in surgically treated Behçet's syndrome--a case report

Beh?et's syndrome is a multisystem disorder with unknown etiology. Clinically it is mostly seen as a systemic vasculitis; almost 30% of the patients have vascular involvements, and most of these are venous thrombosis and arterial aneurysms. Obstructions of the femoral and tibial arteries have also been reported in the literature. The authors present here a patient with Beh?et's syndrome who had pseudoaneurysms on both femoral arteries after aortobifemoral bypass surgery.     

The association between dental wear and reduced vertical dimension of the face: A morphologic study on human skulls

Objective

The aim of this study was to explore the relationship between dental wear and facial morphology, with particular reference to the occlusal vertical dimension, in modern human skulls.

Design

One hundred and three skulls (52 men and 51 women) between the ages of 20 and 50+ years old were studied. The selected skulls were from a modern period (the 17th and the 18th centuries) and included at least one entire condyle and had at least 3 posterior teeth (premolar or molar) in each quadrant to allow for dental articulation. Occlusal wear was evaluated using ordinal scale (0–4) and vertical occlusal dimension was evaluated by measuring upper facial height (UFH), lower facial height (LFH), LFH-to-UFH ratio (L-U-R) and dental wear. Based on the occlusal wear score, two groups were defined: with and without significant wear.

Results

Significant relation was observed between age and dental wear (P < 0.01). No significant differences were found in the LFH (P = 0.847) or UFH (P = 0.108) between the two wear groups. In addition, no significant difference (P = 0.132) was demonstrated in the LFH-to-UFH ratio between the groups. No difference was observed in the dental wear score between genders (P = 0.321).

Conclusion

Within its limitations, this study demonstrated that dental wear does not influence the vertical dimension of occlusion. Our assumption is that the dento-facial complex fully compensates for the dental effects of wear throughout life.     

Heparanase procoagulant activity is elevated and predicts survival in non-small cell lung cancer patients

Background

Heparanase is implicated in angiogenesis and tumor progression. We had earlier demonstrated that heparanase may also affect the hemostatic system in a non-enzymatic manner. It forms a complex and enhances the activity of the blood coagulation initiator- tissue factor (TF). Although increased heparanase antigen level in the plasma and biopsies of cancer patients was previously demonstrated, in the present study we evaluated, for the first time, the heparanase procoagulant activity in the plasma of patients with lung cancer.

Materials and Methods

Sixty five patients with non-small cell lung cancer at presentation and twenty controls were recruited. Plasma was studied for TF / heparanase procoagulant activity, TF activity and heparanase procoagulant activity using chromogenic assay and heparanase antigen levels by ELISA.

Results

Heparanase antigen levels were higher in the study group compared to control (P = 0.05). TF / heparanase activity, and even more apparent, heparanase procoagulant activity were significantly higher in the study group compared to controls (P = 0.008, P < 0.0001, respectively). No significant difference was observed in the TF activity between the groups. Survival of patients with heparanase procoagulant activity higher than 31 ng/ml predicted a mean survival of 9 ± 1.3 months while heparanase procoagulant activity of 31 ng/ml or lower predicted a mean survival of 24 ± 4 months (P = 0.001). Heparanase procoagulant activity was higher than 31 ng/ml in the four cases of thrombosis detected during the follow-up period.

Conclusions

Elevated heparanase procoagulant activity in patients with lung cancer reveals a new mechanism of coagulation system activation in malignancy. Heparanase procoagulant activity can potentially be used as a predictor for survival.     

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3

Background. Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis. Aim. To identify the molecular basis of recessive EKV in a consanguineous family of Middle Eastern origin. Methods. Direct sequencing and site‐directed mutagenesis was used to search for the disease‐causing mutation and identify its molecular consequences. Results. A novel missense mutation (c.G88A) was found in the human GJB3 gene, resulting in substitution of the amino acid isoleucine for valine at position 30 (p.V30I). Under in vitro conditions, p.V30I prevents Cx31 reaching the cell membrane and taking part in gap‐junction formation. Conclusions. Autosomal recessive inheritance should be considered when providing genetic counselling to consanguineous families at risk for EKV.     

Reduced protein C Global assay level in infertile women prior to IVF-ET treatment

Purpose

In the last few years more robust evidence is emerging to point out at an increased rate of prematurity and low birth weight in singleton pregnancies following ART. Whether this increased rate is related to ART practice or to infertility per se, is still an open question. Our aim in this study was to explore this question by evaluating Protein C (ProC) Global assay in infertile women before ART treatment.

Methods

A cohort of 95 unselected and consecutive infertile women, eligible for ART, was prospectively recruited for the study. The control group included 77 matched healthy fertile women with a history of spontaneous conceptions. Pro C Global assay was evaluated in both groups. A full thrombophilic work-up was performed in the study group.

Results

ProC Global assay level was found to be significantly lower in the study as compared to the control group, corresponding to 0.78 ± 0.16 and 0.88 ± 0.16, respectively (P < 0.01). As well, abnormal ProC Global assay level of ≤ 0.8 was significantly higher in the study as compared to control group corresponding to 53 % and 29 %, respectively. ProC Global assay level was significantly lower in women within the study group found to have APCR, factor V Leiden and high factor VIII level, any thrombophilia or combined thrombophilia when compared to women without these thrombophilic risk factors.

Conclusions

Reduced ProC Global assay level is encountered in infertile women prior to ART treatment. This finding may suggest a unique anticoagulation Protein C pathway in infertile as compared to fertile women. Further studies are encouraged to explore this finding.     

Prophylactic therapy with enoxaparin in children with acute lymphoblastic leukemia and inherited thrombophilia during L-asparaginase treatment

Introduction

Thrombotic events (TE) are well documented in patients with acute lymphoblastic leukemia (ALL). They occur due to a combination of disease, host and treatment-related risk factors. Low molecular weight heparin (LMWH) has been found to be effective and safe in children with ALL during L-asparaginase treatment. At present, whether or not to give primary anticoagulant prophylaxis for TE during induction or reinduction courses to children with ALL is controversial. Our group investigated the use of LMWH as a prophylactic treatment for ALL children with a genetic prothrombotic predisposition.

Methods

Eighty consecutive children with ALL treated between the years 1999 and 2008 were studied. Genetic analysis of factor V Leiden (G1691A) and prothrombin (G20210A) gene mutations were done at diagnosis. LMWH was given once daily subcutaneously at a dose of 1 mg/kg, starting with the first dose of L-asparaginase (day 12 of induction, day 8 of consolidation) until one week after the last dose (day 40 of induction, day 25 of consolidation), to patients with inherited thrombophilia stemming from either factor V Leiden or prothrombin gene mutation.

Results

Eighteen patients were found to have a genetic predisposition for TE, all of them received prophylactic LMWH. Six of the 80 (7.5%) patients developed thromboembolic events. Three of these six had a prothrombin (PT) gene mutation and received prophylactic LMWH. No TE event occurred in patients with factor V Leiden mutation receiving prophylactic LMWH.

Conclusion

It is suggested that patients with ALL and PT gene mutation may have a higher risk of clotting complications in comparison to patients with factor V Leiden mutation. A randomized trial of LMWH should be performed to assess its safety and efficacy in preventing venous TE.