药物负荷超声与经胸超声测定冠状动脉储备在冠心病诊断中的价值

目的比较和评价药物负荷超声心动图与经胸多普勒超声测定冠状动脉血流储备(CFR)对冠心病的诊断价值。方法47例疑为冠心病患者于冠状动脉造影(CAG)前进行双嘧达莫药物负荷超声心动图检查,并用经胸多普勒技术测定左前降支(LAD)的CFR。结果根据CAG结果分为LAD显著狭窄组(A组,n=13)和非显著狭窄组(B组,n=34)。显著狭窄组的LAD供血区域室壁运动积分显著增高(P<0.001)而CFR显著降低(P=0.001)。两项技术结合,诊断LAD显著狭窄的敏感性、特异性和准确性分别达到92%、82%和85%。结论双嘧达莫负荷超声心动图结合CFR测定可提高诊断LAD显著狭窄的敏感性。     

Ex vivo immunomodulatory effect of all-trans-retinoic acid during Behçet’s disease: a study in Algerian patients

Uveitis, recurrent oral and genital ulcerations associated with skin lesions are the major symptoms of a chronic multisystemic inflammatory disorder known as Behçet’s disease (BD). High prevalence of this dreaded disease has been observed in the Mediterranean basin, including Algeria and along the Silk Road. Although the etiologic agent of this disease remains uncertain, many hypotheses have been advanced in its pathogenesis. Our team has previously reported high levels of nitric oxide (NO) in sera of BD patients, suggesting its deleterious effect during chronic inflammation. In our current study, the aim is to investigate the ex vivo immunomodulatory effect of all-trans-retinoic acid (ATRA) on NO pathway in Algerian BD patients. First, peripheral blood mononuclear cells isolated from active and inactive BD patients and healthy controls were cultured with different concentrations of ATRA. NO production was estimated with the Griess method. To elucidate the underlying mechanisms of ATRA effect on NO production, we analyze inducible nitric oxide synthase expression and nuclear factor-κB (NF-κB) activity by immunofluorescence test. Our results revealed a higher production of NO in active BD compared with the inactive stage and healthy controls. We observed that ATRA inhibits NO production in BD both in active and inactive stages and inhibits NF-κB translocation. In conclusion, we report a relationship between NO production and the disease activity. ATRA down-regulates NO production in BD patients. This immunomodulatory effect seems to be mediated through NF-κB pathway. All these findings suggest that ATRA could be considered as a promising therapy for BD.     

A new mutation identified in <Emphasis Type="Italic">SPATA16</Emphasis> in two globozoospermic patients

Purpose

The aim of this study is to identify potential genes involved in human globozoopsermia.

Methods

Nineteen globozoospermic patients (previously screened for DPY19L2 mutations with no causative mutation) were recruited in this study and screened for mutations in genes implicated in human globozoospermia SPATA16 and PICK1. Using the candidate gene approach and the determination of Spata16 partners by Glutathione S-transferase (GST) pull-down four genes were also selected and screened for mutations.

Results

We identified a novel mutation of SPATA16: deletion of 22.6 Kb encompassing the first coding exon in two unrelated Tunisian patients who presented the same deletion breakpoints. The two patients shared the same haplotype, suggesting a possible ancestral founder effect for this new deletion. Four genes were selected using the candidate gene approach and the GST pull-down (GOPC, PICK1, AGFG1 and IRGC) and were screened for mutation, but no variation was identified.

Conclusions

The present study confirms the pathogenicity of the SPATA16 mutations. The fact that no variation was detected in the coding sequence of AFGF1, GOPC, PICK1 and IRGC does not mean that they are not involved in human globozoospermia. A larger globozoospermic cohort must be studied in order to accelerate the process of identifying new genes involved in such phenotypes. Until sufficient numbers of patients have been screened, AFGF1, GOPC, PICK1 and IRGC should still be considered as candidate genes.

     

Influence of parity on bone mineral density and peripheral fracture risk in Moroccan postmenopausal women

The aims of the study were to determine: (1) the relationship between parity and bone mineral density (BMD); (2) the relationship between parity and osteoporotic peripheral fractures.

Material and methods

The group studied included 730 postmenopausal women. Patients were separated into four groups according to the number of fullterm pregnancies, group 1: nulliparae, group 2: one to three pregnancies, group 3: four to five pregnancies, and group 4: six and more pregnancies. Additionally, patients were separated into three groups according to their ages, as <50 years, 50–59 years and ≥60 years.

Results

The median parity was 4 [0–20]. All the patients with parity greater than six had spine and hip BMD values significantly lower than values in the other groups (p < 0.001). After adjustment for age and body mass index (BMI), decreased lumbar and total hip BMD were still associated to increased parity (analysis of covariance (ANCOVA), p = 0.04 and 0.023, respectively). The relation between parity and lumbar BMD was highly significant among women aged <50 years (age-adjusted p = 0.022), while there was no parity-spine BMD association in the other age groups. The relation between parity and hip BMD was seen only in the group 50–59 years (age-adjusted p = 0.042). A positive history for peripheral fractures was present in 170 (23%) patients. There was relationship between parity and peripheral fractures neither in the whole population nor in the sub-groups according to age.

Discussion

The present study suggests that the BMD of the spine and hip decreases with an increasing number of pregnancies, and this situation shows variations in different age groups. However, there was no correlation between parity level and peripheral fractures.