Molecular heterogeneity of factor XI deficiency in Tunisia.

Factor XI (FXI) deficiency is a rare inherited bleeding disorder that is highly prevalent in Ashkenazi Jewish ancestry but sporadically observed in most ethnic groups. It is heterogeneous both in clinical presentation and in genetic causality. Although a large spectrum of mutations associated with this disorder has been reported in several populations, genetic data of FXI deficiency in Tunisia are poorly described. The purpose of this study was to determine the molecular basis of FXI deficiency among Tunisian patients. Fourteen index cases from nine unrelated families with FXI deficiency, referred to Hemophilia Treatment Center of Aziza Othmana Hospital, were included in this study. The patients' F11 genes were amplified by PCR and subjected to direct DNA sequencing analysis. Sequencing analysis of F11 genes identified three distinct mutations; the Jewish type II nonsense mutation E117X, one previously reported missense mutation E602Q and one novel missense mutation V271M, which led to the disruption of the third apple domain structure of FXI. Furthermore, seven polymorphisms previously described, were also detected: C321F, c. 294A>G, -138 A>C, p.D125D, p.T249T, p.G379G, p.D551D. This report represents the first genetic study analyzing the molecular characteristics of factor XI deficiency within Tunisian population. Identification of the Jewish type II mutation in two families, as well as one missense previously reported mutation and one novel mutation confirmed the genetic heterogeneity of this disorder. Screening a large number of Tunisian factor XI deficient would reveal the spectrum mutations causing factor XI deficiency in Tunisia.

Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency.

Congenital factor VII (FVII) deficiency is an autosomal recessive bleeding disorder characterized by a weak phenotypic and genotypic correlation. This study aimed to determine the genetic alterations of 40 Tunisian patients and to evaluate their relationships with the collected clinical and biological data. Forty FVII-deficient Tunisian patients have been included in this study. First, diagnosis of the FVII deficiency was made on the basis of FVII coagulant activity (FVII:c) levels performed using the prothrombin time assay. Then, clinical and anamnesis data were set up and filed out from the regional registry of bleeding disorders and the medical file of each patient. Finally, genetic alterations were determined by direct sequencing of the coding regions, intron/exons boundaries of the F7 gene. Clinical heterogeneity was noticed, and the direct sequencing allowed the identification of 13 F7 gene mutations of which one was a novel mutation. The clinical manifestations are variably associated with FVII activity FVII:c levels. Lack of relations between severity of clinical manifestations and genotypes was observed; however, a relationship between the nonpathogeneous mutations and clinical phenotypes was noticed. A wide phenotypic inter-individual variability was detected, which suggests the presence of other extra-genetic components influencing the expressivity of the deficiency.

Infected urachal cyst in an adult: A case report.

The urachus is an embryologic remnant which degenerates after the birth. An infected urachal cyst is one of a spectrum of presentations of urachal pathology, all of which are rare in adulthood. Infected urachal cyst is a rare pathology in adult women and it should be considered in the differential diagnosis of acute abdomen. We report here a case of a 50-year-old women with an infected urachal cyst reveled by an acute abdomen.

The clinical and prognostic value of miR-9 gene expression in Tunisian patients with bladder cancer.

There is a major need for the identification of biomarkers, which are able to guide personalized therapy for bladder cancer, in particular after resection of the primary tumor. Specifically, miR-9 upregulation has been preliminarily associated with a more aggressive phenotype of bladder cancer, namely muscle-invasive bladder cancer (MIBC) or high-grade non-muscle-invasive bladder cancer (HG NMIBC). In order to explore the potential utility of miR-9 as a biomarker in bladder cancer, we have investigated its expression pattern in a sample of Tunisian patients who have undergone primary resection. This is a retrospective study performed on BCa samples from 90 patients (44 specimens of HG NMIBC, 23 specimens of LG NMIBC, and 23 specimens of MIBC). Ten samples from the non-tumoral zone of cystectomy specimens were used as controls. For each specimen, we measured miR-9 expression and correlated it with the clinical characteristics of the patients. Overall, miR-9 was overexpressed in MIBC compared to NMIBC specimens (median fold change [FC]: - 8.89 vs 1.41, p = 0.001). Similarly, miR-9 expression was significantly different in LG NMIBC, HG NMIBC and MIBC subgroups (median FC: 0.68, 2.14 and 8.89, respectively; p = 0.001). ROC analysis showed that miR-9 expression pattern could be used as potential biomarker for distinguishing NMIBC subgroups: indeed miR-9 expression is relatively low in LG NMIBC and high in HG NMIBC. The thresholds are estimated at 0.063 and 21.597, respectively. Moreover, miR-9 was associated with a higher risk of progression. This study suggests the clinical value of miR-9 as a prognostic factor in bladder cancer after tumor resection. Should the prognostic ability of miR-9 be confirmed in larger studies, also on different ethnic groups, it would be useful to investigate whether urine sampling-which is easier to perform, less invasive and less costly-can provide the same results as analysis on surgical specimens.

Renal tuberculosis mimicking renal cell carcinoma: a case report.

BACKGROUND: Urogenital tuberculosis is still a frequent presentation, and it constitutes a current public health problem in endemic areas. The clinical presentation of this form of the disease may be misleading. The pseudotumoral type of renal tuberculosis is extremely uncommon. CASE PRESENTATION: We present a case of a 52-year-old African woman who presented with urogenital tuberculosis in its pseudotumoral form. This case was initially diagnosed and managed as renal cancer. Histopathology confirmed the diagnosis of pseudotumoral renal tuberculosis. CONCLUSIONS: The pseudotumoral form of urinary tuberculosis can be difficult to diagnose. Only bacteriological or histological confirmation allows diagnosis for adequate treatment.

Masson's tumor of the kidney: a case report.

BACKGROUND: Intravascular papillary endothelial hyperplasia (known also as Masson's tumor) is a benign vascular lesion that commonly occurs in the skin and is rarely found in solid organs, especially in the kidney. In what follows, we will look into the first case of an unexpectedly diagnosed Masson's tumor of the kidney presenting as a suspicious renal cyst. CASE PRESENTATION: A 61-year-old Arab man presented with a left renal cyst, incidentally revealed by ultrasonography. The laboratory values were unremarkable. Computed tomography and magnetic resonance imaging demonstrated a 38 mm left renal midportion Bosniak IV cyst. Our patient underwent a radical nephrectomy. Histopathology revealed the diagnosis of intravascular papillary endothelial hyperplasia. There was no recurrence detected after 9 years of follow-up. CONCLUSIONS: Renal intravascular papillary endothelial hyperplasia is a rare benign tumor which can mimic a suspicious renal mass on radiological findings. Thus, this entity should be considered more often in the thick of the diagnostic possibilities in order to avoid unnecessary nephrectomies.

Laparoscopic assisted foreign body extraction from the small bowel: A case report.

BACKGROUND AND AIM: Foreign body ingestion is a commonly seen accident in emergencies, only 1% of them will finally need surgery. Historically, exploratory laparotomy has been the mainstay of treatment for patients requiring surgery. However surgeons are more and more tempted to use laparoscopy in emergency setting.Through this case report we wanted to show in some selected cases the feasibility of laparoscopic assisted foreign body extraction from the small bowel leaving the patient with smaller scar, less morbidity and faster recovery. CASE PRESENTATION: A 30 year old male Inmate, ingested 40 days prior to his visit a bottom part of plastic bottle.Physical examination found an afebrile patient with a whole abdominal tenderness but no signs of peritonitis.The Abdominal Computed Tomography found a small bowel obstruction caused by a foreign body. No Radiological sign of perforation or peritonitis was found.First therapeutic strategy was to wait and see, for 24 h with no sign of improvement and the patient was taken to surgery. We opted for a laparoscopic approach y. The patient had bowel and gas movement the day after surgery. In the third day, the patient had developed a parietal abscess Treated medically. In the 10th day, after surgery the patient was discharged.Fourteenth month after the surgery, the patients is doing well with no late complication. CONCLUSION: Laparoscopic assisted foreign body extraction from the small bowel is a good therapeutic option however Large scale randomized controlled trials are needed before this can be used as a standard of care.