Genetic characterization of four Algerian cattle breeds using microsatellite markers.

Cattle plays a very important role in agriculture and food security in Algeria. In the present study, the genetic diversity and structure of Algerian indigenous cattle populations were evaluated by microsatellite markers. A total of 138 individuals belonging to four cattle breed populations were characterized using 22 microsatellite markers. A total of 360 alleles was detected across studied all loci. Results obtained for the mean number of alleles (16.36), expected heterozygosity (0.84) and polymorphic information content (0.82) indicated that the total analyzed populations are characterized by noticeable genetic variability. It can be said that there is a low genetic differentiation in the cattle populations studied considering obtained mean FST value (0.039). It was revealed 97.10% of the total genetic variation can be explained by genetic differences among individuals while 2.90% among populations. The structure, factorial correspondence analysis results and dendrogram showed that cattle populations studied are clustered in three groups. The present study has revealed an important knowledge about the genetic diversity and the relationship between some native cattle breeds raised in Algeria. The results showed that the breeds studied have a high genetic diversity. Moreover, it can be said that microsatellite markers used can be successfully used to determine genetic diversity and population structure in Algerian cattle breeds.

A systematic review of contemporary management of oligometastatic prostate cancer: fighting a challenge or tilting at windmills?

PURPOSE: Amongst the unanswered questions regarding prostate cancer (PCa), the optimal management of oligometastatic disease remains one of the major concerns of the scientific community. The very existence of this category is still subject to controversy. Aim of this systematic review is to summarize current available data on the most appropriate management of oligometastatic PCa. EVIDENCE ACQUISITION: All relevant studies published in English up to November the 1st were identified through systematic searches in PubMed, EMBASE, Cochrane Library, CINAHL, Google Scholar and Ovid database. A search was performed including the combination of following words: (prostate cancer) and (metastatic) and [(oligo) or (PSMA) or (cytoreductive) or (stereotaxic radiotherapy) or (prostatectomy)]. 3335 articles were reviewed. After title screening and abstract reading, 118 papers were considered for full reading, leaving a total of 36 articles for the systematic review. EVIDENCE SYNTHESIS: There is still no consensus on the definition of oligometastatic disease, nor on the imaging modalities used for its detection. While retrospective studies suggest an added benefit with the treatment the primitive tumor by cytoreductive prostatectomy (55% survival rate vs 21%, p < 0.001), prospective studies do not validate the same outcome. Nonetheless, most studies have reported a reduction in local complications after cytoreductive prostatectomy (< 10%) compared to the best systemic treatment (25-30%). Concerning radiotherapy, an overall survival benefit for patients with a low metastatic burden was found in STAMPEDE (HR 0.68, 95% CI 0.52-0.90; p = 0.007) and suggested in subgroup analysis of the HORRAD trial. Regarding the impact of metastases-directed therapy (MDT), the STOMP and ORIOLE trials suggested that metastatic disease control might improve androgen deprivation therapy-free survival (in STOMP: 21 vs 13 months for MDT vs standard of care). Nonetheless, the impact of MDT on long-term oncologic results remains unclear. Finally, oligometastatic disease appears to be a biologically different entity compared to high-burden metastatic disease. New findings on exosomes appear to make them intriguing biomarkers in the early phases of oligometastatic PCa. CONCLUSION: Oligometastatic PCa is today a poorly understood disease. The implementation of new imaging techniques as whole-body MRI and PSMA PET/CT has increased exponentially the number of oligometastatic patients detected. Data of available trials suggest a benefit from cytoreductive prostatectomy to reduce local complication, though its impact on survival remains unknown. Radiotherapy may be beneficial for patients with low-burden metastatic PCa, while MDT may delay the need for androgen deprivation therapy. Results from ongoing trials data are eagerly awaited to draw reliable recommendations.

[Prognostic of older age for patients with invasive-muscle-bladder cancer and treated by radical cystectomy]. / L'âge avancé est-il un facteur de mauvais pronostic pour les patients atteints de tumeur de vessie infiltrant le muscle et traités par cystectomie ?

INTRODUCTION: Bladder tumor is a disease of older persons, but can also occur in young adults, because certainly an influence of environmental factors and a change of lifestyle. The aim of our retrospective analysis is to assess and evaluate the extent of the prognostic impact of age on the carcinological prognosis of invasive-muscle-bladder cancer treated by total cystotomy. METHODS: To evaluate the association of patient age with pathological characteristics and recurrence-free and disease survival, we retrospectively reviewed 345 patients with invasive bladder cancer between January 2000 and January 2015. RESULTS: We divided our patients into two groups: patients under 65 years of age=150 cases (group 1), patients aged 65 years and over=195 cases (group 2). The 3-year survival rates for patients according to the age groups were 88% and 64% respectively, end the recurrence-free survival 66% and 28%. When age was analysed as a categorical variable, was associated with hydronephrosis (P=0.001), advanced pathological stage (P=0.034), high grade (P=0.026), nodal involvement (P=0.011) and lymphovascular invasion (P=0.008). The multivariate Cox model analysis showed that hydronephrosis and pathological stage was prognostic factors of survival (P=0.012 and P=0.035, respectively). Higher age is significantly associated with the risk of pathologically advanced disease and poorer global survival. CONCLUSION: This work allowed us to assert that advanced chronological age is significantly associated with an advanced pathological stage of the disease (volume, pT, grade, lymph nodes) and a low overall survival rate. This could be useful for selecting subjects who would require adjuvant therapy, as well as for planning early complementary therapies. LEVEL OF EVIDENCE: 3.

A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole-exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with 2 affected fetuses. RNA studies and histopathological analysis was performed for further delineation. WES lead to identification of a homozygous nonsense mutation c.256C>T (p.Arg86*) in CEP55 (centrosomal protein of 55 kDa) in the affected fetus. The variant has previously been identified in carriers in low frequencies, and segregated in the family. CEP55 is an important centrosomal protein required for the mid-body formation at cytokinesis. Our results expand the list of centrosomal proteins implicated in human ciliopathies and provide evidence for an essential role of CEP55 during embryogenesis and development of disease.

Identification of G2607A mutation in EGFR gene with a significative rate in Moroccan patients with Bladder Cancer.

The epidermal growth factor receptor (EGFR) is involved in the regulation of several cellular processes and in the development of many human cancers. Somatic mutations of EGFR at tyrosine kinase domain have been associated with clinical response to tyrosine kinase inhibitors (TKIs) in lung cancer patients. In this study, we evaluated the frequency of point mutations in EGFR for future use of TKI in clinical treatment of bladder cancer. A total, 50 Moroccan patient specimens with bladder cancer and 48 healthy controls were analysed for EGFR mutations in the region delimiting exons 18-21 by PCR amplification and direct sequencing. Our results showed the absence of mutations in the EGFR kinase domain in these exons in all analysed specimens. However, sequence analysis of the EGFR-TK domain, revealed the presence of (G2607A) polymorphism at exon 20. Statistical analysis showed significant difference in the frequencies of G2607A polymorphism between cancer cases and healthy controls (p=0.0001) and the frequencies of the GG and GA/AA genotypes among the cancer cases were 28% and 72%, respectively. Moreover, allelic frequencies of G2607A polymorphism showed significant difference between cancer cases and healthy controls (p=0.0025). Data analysis showed no significant association between G2607A polymorphism and patients' age, clinical stage and tumor grade (p > 0.05). However, a significant difference was found between this polymorphism and patients' sex that could be a sampling bias due to the very limited number of women with bladder cancer. Our findings highlight that, mutations in EGFR kinase domain is a rare event in bladder cancer, suggesting, that treatment of bladder cancer patients with TKI may not be effective. However, the EGFR G2607A polymorphism in exon 20 is frequent in bladder cancer cases and must be further explored for its relevance in the treatment of this disease.

Association between GPX1 Pro189Leu polymorphism and the occurrence of bladder cancer in Morocco.

Worldwide, Bladder cancer is the most frequent male malignancy. It is the third most common male malignancy in Morocco. The risk factors for developing bladder cancer are multiples including dietary conditions, environmental exposure and oxidative stress. GPX1 gene encoding for the human cellular antioxidant enzyme glutathione peroxidase1 is a key factor in the cell detoxification process. GPX1 Pro198Leu polymorphism is associated with a decrease of enzyme activity and may contribute to bladder cancer susceptibility. The present case-control study was planned to assess the presence of GPX1 Pro198Leu polymorphism in Moroccan population to determine whether it is associated with the risk of developing bladder cancer in Moroccan patients. A total of 32 patients with bladder cancer and 40 healthy controls were enrolled. Genotyping of the GPX1 Pro198Leu polymorphism was carried out by PCR amplification and DNA sequencing. Pro198Leu polymorphism was observed in both bladder cancer patients and healthy controls. No significant association between the polymorphism and bladder cancer occurrence was found (Pro/Leu vs. Pro/Pro: p=0.425; Leu vs. Pro: p=0.435). For the analysis of Pro198Leu polymorphism and progression of bladder cancer, no association was observed neither for stages (Pro/Leu vs. Pro/Pro: p=0.500; Leu vs. Pro: p=0.500) nor grades (Pro/Leu vs. Pro/Pro: p=0.415; Leu vs. Pro: p=0.427). Our results clearly showed no significant association between Pro198Leu polymorphism and risk of bladder cancer in our population, suggesting that the effect of this polymorphism on bladder cancer development might be a result of a combination with other genetic alterations and/or non-genetic variables such as diet and lifestyle factors.

Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children.

BACKGROUND: The Fat mass and obesity-associated gene (FTO) was the first gene reliably associated with body mass index in genome-wide association studies on a population level. At present, the genetic variations within the FTO gene are still the common variants that have the largest influence on body mass index. METHODS: In the current study, we amplified the entire FTO gene, in total 412 Kbp, in over 200 long-range PCR fragments from each individual, from 524 severely obese and 527 lean Swedish children, and sequenced the products as two DNA pools using massive parallel sequencing (SOLiD). RESULTS: The sequencing achieved very high coverage (median 18 000 reads) and we detected and estimated allele frequencies for 705 single nucleotide polymorphisms (SNPs) (19 novel) and 40 indels (24 novel) using a sophisticated statistical approach to remove false-positive SNPs. We identified 19 obesity-associated SNPs within intron one of the FTO gene, and validated our findings with genotyping. Ten of the validated obesity-associated SNPs have a stronger obesity association (P<0.007) than the commonly studied rs9939609 SNP (P<0.012). CONCLUSIONS: This study provides a comprehensive obesity-associated variation map of FTO, identifies novel lead SNPs and evaluates putative causative variants. We conclude that intron one is the only region within the FTO gene associated with obesity, and finally, we establish next generation sequencing of pooled DNA as a powerful method to investigate genetic association with complex diseases and traits.

[Translation and linguistic validation in classical Arabic of the urinary symptom profile (USP) questionnaire]. / Traduction et validation linguistique en Arabe classique du questionnaire de l'urinary symptom profile (USP).

OBJECTIVE: The objective was to translate and linguistically validate in classical Arabic; the French version of the Urinary Symptom Profile (USP), the scale adapted to vesico-sphincter disorders. PATIENTS AND METHODS: Prospective study of 30 patients suffering the vesico-sphincter disorders. The translation was obtained by the method: translation back-translation. Patients completed the final questionnaire on day 0 and day 15. The feasibility, acceptability, internal consistency using Cronbach's alpha and test-retest repeatability by the interclass correlation coefficient (ICC) with the confidence interval (CI) were studied. RESULT: The sample consisted of 30 subjects including 20 men (66.6%) and 10 women (33.3%). The mean age was 48±18, 14 years ranging from 25 to 70 years. The questionnaire was feasible and acceptable. The Cronbach's alpha of the three dimensions, urinary stress incontinence, overactive bladder and voiding difficulties was respectively 0.9880, 0.9774 and 0.9683, respectively; the ICC was 0.9762 (95% CI: 0.9307-0.9919), 0.9558 (CI 95%: 0.8738-0.9849) and 0.9385 (95% CI: 0.8274-0.9789). CONCLUSION: The Arabic version of the classic USP had excellent internal consistency and excellent repeatability enable a full assessment of all urinary disorders and their severity.

Epigenetic alterations of adenomatous polyposis coli (APC), retinoic acid receptor beta (RARß) and survivin genes in tumor tissues and voided urine of bladder cancer patients.

The CpG promoter methylation has been reported to occur frequently in bladder cancer. Moreover, analysis of gene methylation has been shown to be feasible from voided urine and can be detected with a high degree of sensitivity. The aim of this present study is to determine how methylation patterns of APC, RARβ and Survivin genes change during bladder carcinogenesis and to evaluate whether DNA methylation could be detected in urine sediment. Using the sensitive assay of MSP, we explored the promoter methylation status for the three genes in tumor specimens and urine sediment DNA from 32 bladder cancer patients. Methylation frequencies of the tested genes in tumor specimens were 100%, 75% and 84.4% for APC, RARβ and Survivin, respectively. Hypermethylation of APC was found in all pathological grades and stages of bladder cancer. More frequent promoter hypermethylation of RARβ and Survivin was observed in high grade tumors and the hypermethylation increased from low to high stages, but there was no significant correlation between stages/grades and hypermethylation of these two gene promoters. In order to investigate clinical usefulness for noninvasive bladder cancer detection, we further analyzed the methylation status in urine samples of bladder cancer patients. Methylation of the tested genes in urine sediment DNA was detected in the majority of cases that were hypermethylated in tumor samples (93.7%) and the frequencies were 79.3% 70.8% and 96.3% for APC, RARβ and Survivin, respectively. Our results indicate that methylation of APC, RARβ and Survivin gene promoters is a common finding in patients with bladder carcinoma. The ability to detect methylation not only in bladder tissue, but also in urine sediments, suggests that methylation markers are promising tools for noninvasive detection of bladder cancer.

[US-guided transrectal drainage of prostatic abscesses]. / Aspiration échoguidée transrectale des abcès prostatiques.

Prostatic abscess is rare and most commonly occurs as a complication of acute prostatitis. Because of the wider use of antibiotics, the clinical presentation is becoming less typical. Diagnosis is useful for diagnosis. Based on a review of 3 cases, the authors report their experience with US-guided transrectal drainage of prostatic abscesses and review other therapeutic options.

[Renocolic fistula following abdominal trauma: a case study]. / Les fistules rénocoliques post-traumatiques : à propos d'une observation.

The renocolic fistula is a rare entity, which has occurred exceptionally in a traumatic not iatrogenic context, we report a case of renocolic fistula complicating penetrating abdominal trauma from a gunshot.

[3D representation of skull and soft tissues. Usefulness in orthodontic and orthognathic surgery]. / Modélisation 3D du viscéro-crâne. Applications en orthodontie et chirurgie orthognatique.

Three D Modeling of the human face. The method combines the use of DICOM CT scan or cone beam data, anatomical informations and a mathematical tool, the axes of inertia, in order to create a 3D model for cephalometric analysis of the human face. The balance and symmetry of the model are stable enough to define normality for each individual, even when there are differences in ethnic and cultural origins. Imbalance and asymmetry characterize pathologies. Follow up shape and size of models allow growth prediction and modeling. An original statistical study of the 3D model variability using the "geometry morphometrics method" (GMM) is introduced. This 3D model is in the process of becoming an indispensable reference for all of those who are interested in studying the human face such as Orthodontists, Surgeons, Anatomists, Anthropologists and Forensic Medical Practitioners.

[Role of polyvidone-iodine ablation in the management of symptomatic renal cysts]. / Place de la ponction-sclérothérapie à la polyvidone-iodine dans le traitement des kystes rénaux simples symptomatiques.

OBJECTIVE: To assess prospectively the results of percutaneous sclerotherapy with povidone-iodine of symptomatic renal cysts in adults. METHODS: Fifty two patients were included in this study from august 2004 to november 2006. The operative indication was: pain (41 cases), urinary tract compression (8 cases), and very large cyst (3 cases). The preoperative assessment (site and dimensions of the cyst) always included ultrasonography. CT scan, for morphological assessment, was performed in 39 cases. RESULTS: The mean age of patients was 63 years (47-75 years). The mean diameter was 76 mm. The cysts were punctured in all the cases directly under local anaesthesia and guided by sonography. The procedure was very well tolerated in every case, with external drainage for 72 hours. Clinical regression was complete in 48 cases (92%), with total ultrasonographic disappearing of the cysts in 31 cases (60%) with a mean follow-up of 14 months (3-29 months). CONCLUSION: Percutaneous sclerotherapy with povidone-iodine is a safe, effective and reproducible treatment of symptomatic renal cysts in adults.

[Dental implant news: from help to diagnosis to help to surgery]. / Nouveautés en implantologie: de l'aide au diagnostic à l'aide à la chirurgie.

Imaging has always been a part of dental implant procedures from its beginning. Initially, imaging was performed by dentists. The introduction of CT scan at the end of the seventies was revolutionary. Radiologists then played a major role in image generation and distribution. For the last two years, a revolution is occurring with the availability of "cone beam" CT machines in dental offices with implant planning software. The dentist can sometimes administer the entire delivery of care: choice of imaging technique, generation and distribution of imaging data, implant planning and treatment. The radiologist's role is now only conceivable as a specialist in dental imaging, attuned to the evolution of dental implant techniques.

[Primitive neuroectodermal tumor (PNET) of the upper-urinary tract]. / Tumeur neuro-ectodermique primitive (TNEP) de la voie excrétrice supérieure.

Primitive neuroectodermal tumors (PNETs) are rare and aggressive malignant small round cell sarcomas. Primitive urogenital location of PNETs is rare and occurs most frequently in the kidney. PNETs of the upper-urinary tract are exceptional (only one case reported in the literature). Its diagnosis is almost postoperative within pathological study of the operatory specimen, supported by immunohistochemistry and cytogenetics. Treatment is similar in all to that of Ewing's sarcoma and involves surgery, chemotherapy and radiotherapy. We report a new case of upper-urinary tract PNET and discuss the diagnostic and therapeutic problems posed by this particular tumor.

Pelvic salvage (SBRT) radiotherapy based on 68Ga-PSMA PET/CT: About a case.

Very few patients with a biochemical failure after radical prostatectomy respond to prostatic bed irradiation. In this setting, 68Ga-PSMA PET/CT seems to be a useful tool for the detection of lesions remaining occult to conventional imaging work-up, changing the treatment strategy in a significant percentage of patients. we report the case of a patient in whom the PSMA PET allowed orientation of the SBRT. To date the patient has no recurrence.

[Value of relative cerebral blood volume measurement using perfusion MRI in glioma management]. / Intérêt de la mesure du volume sanguin régional cérébral relatif par IRM de perfusion dans la prise en charge des gliomes.

INTRODUCTION: Neoangiogenesis is a critical feature that can differentiate high-grade from low-grade glioma. Conventional MR imaging does not assess this histological feature accurately. The goal of this study was to evaluate the gain in relative cerebral blood volume measurement using perfusion MRI in the management of cerebral gliomas. MATERIALS AND METHODS: Between 1998 and 2001, 32 histologically proven glial tumors were assessed by perfusion MRI using echoplanar imaging (EPI) and gradient-echo techniques. Relative cerebral blood volume (rCBV) was measured in all patients and compared to histological data. RESULTS: rCBV values were significantly correlated to histological grading in all 32 patients (P<0.001). Mean rCBV values were 8.74 (+/-3.79) for glioblastomas, 7.37 (+/-2.83) for anaplastic gliomas and 0.84 (+/-0.61) for low-grade gliomas. Mean rCBV values were significantly different between low- and high-grade gliomas, making it possible to determine a threshold (2.5-3) that can separate these two types of lesion. In determining the histological grading, rCBV was shown to be significantly more accurate than conventional MRI (P<0.005). CONCLUSION: Perfusion MRI using the EPI technique reliably assesses tumoral neoangiogenesis in gliomas preoperatively. The specificity and sensitivity of this technique make this radiological modality a valuable tool in the assessment of cerebral gliomas.

[Traumatic dissection of the left renal pedicle in a young adult]. / Dissection traumatique de l'artère rénale gauche chez un adulte jeune.

Blunt trauma rarely causes renal pedicle dissection. Clinical signs are minimal and inconsistently reported. The diagnosis is based on computed tomographic angiography; arteriography is still useful when revascularization is considered. We report here a case of traumatic dissection with thrombosis of a juxta-aortic renal pedicle monitored in the intensive care unit. An endovascular procedure could not be proposed because of the juxta-aortic localization.

Pathological outcomes and agressiveness of low-risk prostate cancer in Northern African men. / Resultados patológicos y agresividad del cáncer de próstata de bajo riesgo en los hombres del norte de África.

BACKGROUND: Northern African (NAf) men show a high incidence of advanced prostate cancer (PCa) at diagnosis. Several studies suggested the existence of ethnic differences in the PCa aggressiveness and this has led to some concerns related to the inclusion of some ethnic groups into active surveillance protocols. OBJECTIVE: To evaluate pathological outcomes and aggressiveness of low risk PCa treated by radical prostatectomy in a NAf ethnic group. SUBJECTS AND METHODS: Data of 147 NAfs, who underwent radical prostatectomy for low risk PCa diagnosed via a 12-core biopsy in 2 academic centers between 2011 and 2015, were reviewed retrospectively to assess rates of worse pathological outcomes defined as: Gleason score upgrade to at least 3+4, upstage to pT3a or higher or pN1, and positive surgical margins. RESULTS: Overall significant upstage and/or upgrade occurred in 20.2% and positive surgical margins occured in18.3%. In multivariate logistic regression analysis, independent variables that predicted for upstage and/or upgrade or positive surgical margins in the entire cohort were: NCCN risk group (low risk>very low risk), advanced age>60 years, PSA>6ng/ml, PSA density≥0.15, more than 2 positive cores in biopsy, more than 50% cancer involvement in positive cores, clinical stage (T2a>T1c) and UCSF-CAPRA-S score>3. CONCLUSIONS: Our study found that, at least pathologically, NAf men do not have more aggressive disease than Caucasians and African Americans in both low and very low risk PCa. Thus, we think that active surveillance is a suitable approach for selected patients since there is no definitive data that show a more aggressive natural history of PCa in NAf men.

Mitral reconstructive operations. A series of 130 consecutive cases.

Between January, 1975, and January, 1982, 130 patients underwent mitral valvuloplasty for pure or predominant mitral insufficiency. Mean age at operation was 30 +/- 17 years. Twenty-five patients were under 15 years of age. Mitral insufficiency was mainly (112/130) due to rheumatic disease. Fifty-nine patients (45.4%) had another diseased valve which necessitated a surgical correction (tricuspid in 36 and aortic in 23). Surgical technique for mitral valvuloplasty varied according to the lesions. Three patients died in the first month after operation (2.3%). Five patients are lost to follow-up. The mean follow-up period for the 122 remaining patients is 38 +/- 27 months. Seven patients required reoperation and three of them died. An additional patient died without reoperation. Therefore, the late mortality was 3.1% (4/122). Almost all (116/118) of the remaining patients are in Class I (105) or II (11) of the New York Heart Association. Mean cardiothoracic ratio decreased from 60.6% +/- 7.7% preoperatively to 53.7% +/- 6.2% postoperatively (p less than 0.001). Thromboembolic episodes were noted in four patients, all of them in atrial fibrillation. Actuarial curves including hospital mortality showed a 92.0% survival rate at 7 years for the overall series (1.0% +/- 0.5%/patient-year), 93.7% +/- 4.9% at 7 years for isolated mitral reconstruction and 89.9% +/- 5.6% for mitral-tricuspid valvuloplasty at 5 years. The embolism-free rate at 7 years was 91.2%, with a rate of thromboembolic episodes of 1.0 +/- 0.5%/patient-year. Eighty-eight percent were free of reoperation at 7 years, with a rate of reoperation of 1.7 +/- 0.7%/patient-year. This system of mitral repair can provide stable functional results, low surgical and late mortality, and an acceptable rate of reoperation.