Thrombin activatable fibrinolysis inhibitor and its fibrinolytic effect in normal pregnancy

We investigated changes in both thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels and its functional effect on in vitro fibrinolysis in normal pregnancy. 152 pregnant women and 31 women in the immediate postpartum period were studied, with pregnancy divided into 6 windows at 4 weekly intervals. As TAFI influences and is in turn influenced by components of the protein C (PC) pathway, its measurements were correlated with levels of soluble thrombomodulin, PC, protein S (PS) and the overall phenotype of activated PC resistance (APCR). Compared with mean TAFI levels at booking gestation (6.6 +/- 1.2 microg/ml), levels peaked at 35-39 weeks gestation (9.6 +/- 2 microg/ml, p = 0.001), followed by a significant drop within 24 hours of delivery (7.2 +/- 1.1 microg/ml). In functional terms, the mean clot lysis time (CLT) (101 +/- 13 min at booking) also peaked at 35-39 weeks gestation (141 +/- 42 min, p = 0.007) and dropped after delivery (99 +/- 33 min), and was significantly correlated with gestational age (r = 0.410, p = 0.001) and could be abrogated in the presence of an inhibitor to TAFI activation. A significant negative correlation was found between TAFI levels and APCR (r = -0.478, p <0.001), APCRV (r = -0.598; p <0.001), PS (r = -0.490, P <0.001) and PC (r = -0.198, p = 0.02). In summary, there is a significant increase in TAFI levels, which translates into increased CLT during pregnancy. Furthermore, changes in TAFI contribute to the increasing APCR of pregnancy.     

Expression profiling and genetic alterations of the selenoproteins GI-GPx and SePP in colorectal carcinogenesis

The trace element selenium is discussed as a chemopreventive agent in colorectal carcinogenesis. Selenocysteine-containing proteins, so-called selenoproteins, represent potential molecular targets for nutritive selenium supplementation. Due to their antioxidative potential, the selenoproteins gastrointestinal glutathione peroxidase (GI-GPx) and selenoprotein P (SePP) are considered to provide protection against reactive oxygen species (ROS), thereby reducing DNA damage and preventing development of colon cancer. GI-GPx and SePP are abundantly expressed in normal colon mucosa. Recently, we demonstrated both reduced SePP expression and increased GI-GPx expression in colorectal adenomas. In this study, we investigated the expression of SePP and GI-GPx in colorectal cancers compared with corresponding normal mucosa. Further, the occurrence of genetic alterations within the SePP and GI-GPx genes was analyzed. We observed a significant reduction or loss of SePP mRNA expression in colon cancers, whereas GI-GPx mRNA and protein expression varied between different tumor samples. In addition, we identified novel polymorphisms within the SePP and GI-GPx genes with so far unknown relevance for protein function. Our results argue against a general decrease of selenoprotein expression in colorectal carcinogenesis but imply specific differential regulation of expression of individual selenoproteins.     

A prospective comparative study on IVF outcomes with either purified FSH or human menopausal gonadotrophin in downregulated normogonadotrophic women

OBJECTIVE: In compare the use of purified follicle-stimulating hormone with that of a preparation containing follicle-stimulating hormone and luteinizing hormone in infertile females undergoing IVF. DESIGN: Open-labelled prospective controlled single-center study. SETTING: Nile Badrawy IVF unit. PARTICIPANTS: 153 infertile females undergoing their first cycle of IVF divided into 2 groups. Interventions: Ovarian stimulation was done with either highly purified FSH for group 1 (n = 75) or human menopausal gonadotrophin group 2 (n = 78) after pituitary desensitization commenced in the midluteal phase of the preceding cycle. Monitoring was performed by ultrasound transvaginal oocyte retrieval followed by IVF and transfer of three embryos. OUTCOMES: Number of oocytes >18 mm at day of hCG, fertilization rate, embryo transfer rate, clinical pregnancy rate and incidence of ovarian hyperstimulation syndrome. RESULTS: The response to ovarian hyperstimulation was similar in both groups. The number of follicles >18 mm achieved at day of hCG was 12.3 +/- 0.9 (mean +/- SEM) following stimulation with 38.3 +/- 0.9 ampoules of Fostimon The Menogon-treated group needed 39.1 +/- 0.8 ampoules to produce 11.6 +/- 0.7 follicles. Fertilization rate (2PN/cell) was 58.6 vs. 64.2% in the Fostimon and Menogon group, respectively (p > 0.05). The number of embryos transferred per woman was 3.1 +/- 0.1 in the Fostimon group and 3.6 +/- 0.1 in the Menogon group. The pregnancy rate per woman was 33.3 vs. 25.6% in the Fostimon- and Menogon-treated groups, respectively (p > 0.05). Miscarriage rate was 16 vs 20%, respectively. However, the incidence of multiple pregnancies was significantly higher in the Fostimon-treated group (32%) vs. 10% only in the Menogon-treated group (p < 0.01). CONCLUSION: Purified FSH yields similar clinical outcome to hMG in terms of oocytes retrieved and clinical pregnancies in a standard IVF regimen.     

Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: "D-CHRAMPS syndrome"

We here report a rather novel syndrome of dysmorphic features, short stature, microcephaly, alopecia, psychomotor retardation, retinitis pigmentosa and secondary amenorrhoea. This may present a new complex multisystem disorder distinct from those reported in the literature and we propose the acronym D-CHRAMPS for this novel disorder.     

Recent advances in the diagnosis and treatment of deep vein thrombosis: a regional consensus

Considerable progress has been made in the understanding of the risk factors for venous thromboembolism (VTE). The clinical applications of molecular techniques have allowed identification of important inherited, yet not uncommon, risk factors for VTE, such as mutations that cause Factor V Leiden and prothrombin G20210A. However, advances in our understanding have raised several questions regarding the need for, and duration of anticoagulation. At the end of the treatment period, low molecular weight heparins have become the drugs of choice and standard-of-care for VTE. In this review, cost effective diagnostic approaches for patients with suspected deep vein thrombosis, and recommended treatment options using evidence-based approaches, are described.     

Vertebroplasty success in a case of aggressive hemangioma

Vertebral hemangioma is a vascular tumor most oftenly asymptomatic and of casual radiological discovery. More rarely, it can be aggressive, causing neurological complications and therefore requiring a convenient and sustained therapy where vertebroplasty is of essential importance. In this context, we report a case of an aggressive vertebral angioma of L4 which was responsible for lumbocruralgy. She underwent verterbroplasty and then had a very good outcome. In this way we deal with the the different technics of vertebroplasty, their advantages compared to other therapeutic medical, and or surgical methods, as well as their complications.     

Correlation between p53 mutations and HPV in bilharzial bladder cancer

Alterations of the p53 tumor suppressor gene are the most common genetic changes detected in human cancers as well as in papillary and invasive bladder cancer. Several studies have demonstrated an association between HPV infection and urological malignancies. In the present work, the p53 gene status was studied together with the frequency of HPV in 99 cases of Bilharzial bladder cancer [BBC] in Egypt and both were correlated to the clinicopathological features of the patients. SSCP and sequencing were used to screen the p53 gene for mutations at exons 4-10 and IHC was performed to detect protein overexpression. PCR was used for detection and typing of HPV-DNA in tumor samples. p53 mutations were detected in 33.3% of the studied cases whereas protein overexpression was detected in 35.6% of the cases. The highest concordance rate was observed in cases harboring mutations at exon 4 [87.5%]. Bilharzial infestation was obvious in 72.2% of the cases that showed mutations. Exon 8 showed the highest rate of mutation [32%] followed by exons 4 and 5 [22% each]. The commonest mutational event was G:C transversion [15/50] especially at CpG dinucleotides. A mutational hot spot was detected at exon 4, codons 72-73. HPV-DNA was detected in 48.97% of the cases the majority of which [64.6%] were of type 16. Significant correlation was found between p53 mutation and the pathological stage as well as p53 overexpression and tumor grade. Our results demonstrate that the mutational spectrum in BBC is different from that of bladder cancer in Western countries in many aspects and suggest an etiological role of HPV in this type of neoplasm. However, both HPV infection and p53 gene abnormalities may contribute to Bilharzial bladder carcinogenesis in an independent way.     

Defense styles, impulsivity and suicide attempts in major depression

BACKGROUND: The aim of our study was to identify if defense mechanisms are associated with impulsivity and lifetime suicide attempts in depressed patients. SAMPLING AND METHODS: The Defense Style Questionnaire, the Impulsivity Rating Scale and the Impulse Control Scale were used in 77 depressed inpatients. RESULTS: Impulsivity was correlated positively with immature and neurotic styles and negatively with mature style. Some but not all defense mechanisms were relevant in this respect. The number of lifetime suicide attempts was positively correlated not only with impulsivity, but also with immature style and to a lesser extent with neurotic style. Several defense mechanisms were involved in these correlations: undoing, projection, passive aggression, acting out, splitting and somatization. CONCLUSIONS: Like impulsivity, defense styles may be relevant to discriminate recurrent suicide attempters in depression. Prospective assessment of defense styles and suicide attempts in depression is needed.     

Intraoperative monitoring of facial EMG responses during microvascular decompression for hemifacial spasm. Prognostic value for long-term outcome: a study in a 33-patient series

Lateral spread responses (LSR), an electrophysiological characteristic of hemifacial spasm (HFS), can be recorded during surgery. This work aims at evaluating the prognostic value of the persistence or suppression of the LSR at the end of the microvascular decompression (MVD) procedure of the facial nerve. Thirty-three patients with HFS, which had been evolving for 5.5 years, underwent MVD with intraoperative EMG. Monitoring required the placement of a needle in the frontalis and mentalis muscles. Responses were recorded after stimulation of inferior or superior branches of the facial nerve to search for abnormal ephaptic LSR. Preoperative abnormal LSRs were present in all patients. In 23 patients, LSR disappeared with vascular decompression and was not present upon closure. Among those patients, 20 were considered clinically cured and three still presented with mild/moderate spasm at 3-month follow-up. At late follow-up, 22 patients were free of spasm. One patient had recurrence of spasm at month 10. On the contrary, 10 patients had persistent abnormal LSR upon closure. Among those, seven were cured at early follow-up (3 months on average), whereas spasm disappeared at late follow-up (12 to 36 months) in the other three patients. The prognostic value of LSR monitoring is questionable; a good clinical result may be obtained in patients who presented with persistent LSR at the end of MVD. Delayed cure strongly supports the hypothesis that HFS is not only due to the mechanical pulsations of the elongated artery against the root exit zone of the facial nerve, but also to demyelination of the nerve and/or hyperactivity of the facial motornucleus generated by the neurovascular compression.