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1.
Surg Radiol Anat ; 46(4): 543-550, 2024 Apr.
Article En | MEDLINE | ID: mdl-38429406

PURPOSE: Our aim was to study the anatomy of the left and right main adrenal veins (LAV and RAV) and to identify their anatomical variations in order to see the practical application of these findings to adrenal venous sampling (AVS). METHODS: Our work is based on dissection of 80 adrenal glands from fresh corpses in the forensic medicine department. We studied the number, the drainage, the direction and the level of termination of the main adrenal veins. RESULTS: The average length of the LAV was 21 mm. It ended in 100% of cases at the upper edge of the left renal vein with a mean connection angle of 70° and after an anastomosis with the lower phrenic vein in 36 cases(90%). The average length of the RAV was 9 mm. It ended in 100% of cases at the level of the retro hepatic inferior vena cava (IVC) mainly on its posterior face in 21 cases (53%) and on its right lateral border in 18 cases (45%). The mean angle of the RAV in relation to the vertical axis of the IVC was 40°, with extremes ranging from 15° to 90°. CONCLUSIONS: AVS seems to be easier on the left than on the right side because of the greater length of the adrenal vein (21 mm vs. 9 mm) and a greater angle of connection (70° with the left renal vein vs. 40° with the IVC), which explains the lower success rate of cannulation and the more frequent occurrence of blood sample contamination on the right side.


Adrenal Glands , Veins , Humans , Veins/anatomy & histology , Vena Cava, Inferior , Renal Veins/anatomy & histology , Retrospective Studies
2.
Ann Med Surg (Lond) ; 86(1): 240-244, 2024 Jan.
Article En | MEDLINE | ID: mdl-38222707

Background: Emphysematous pyelonephritis (EPN) is a rare and severe necrotizing infection of the kidney with a high rate of complications and mortality. Our aim was to investigate risk factors of urosepsis and mortality in case of EPN. Materials and methods: Between January 2010 and December 2022 the charts of patients diagnosed with EPN were retrospectively reviewed. Patients medical records were collected and data including demographics, BMI, EPN type, the organism causing the infection and biochemical variables were registered. The authors performed an univariate and multivariate logistic regression analysis for sepsis, septic shock, and mortality. Statistical significance was defined as a P-value of <0.05. Results: Our study included 68 patients (63% females, mean age 58.6 years old). Forty-eight patients (70.6%) had diabetes. Half of the patients (50%) presented with sepsis and 11 patients (16.2%) developed a septic shock. The following factors were associated with sepsis by univariate analysis: diabetes (P=0.01), higher blood sugar on admission (P=0.01), higher leukocytic count (P<0.001), higher lymphocytic count (P<0.001), and lower platelet to leukocytes ratio (P<0.001). Multivariate regression analysis revealed that the main risk factors of urosepsis were the leukocytic (OR: 85.7; 95% CI: 9.177-800.486; P<0.001) and lymphocytic count (OR: 6.65; 95% CI: 1.228-36.050; P=0.028). Neither of the variables was significantly associated with a higher risk of mortality. Conclusion: Leukocytic and lymphocytic count on admission are independent simple predictors for sepsis in patients with EPN.

3.
Endocrine ; 83(2): 483-487, 2024 Feb.
Article En | MEDLINE | ID: mdl-37932646

The adrenal gland is a retroperitoneal organ with intimate relationships with neighboring organs but also with the large retroperitoneal vessels. Our aim was to study the vascular relationships of the adrenal gland with the large abdominal vessels. Our work is an anatomical dissection of 80 fresh cadaveric adrenals. The subjects didn't have a history of retroperitoneal surgery. Dissection conditions were similar to those in the living. All measurements were made in situ. On the right side, the average distance between the adrenal gland and the renal vein (DR) was 13 mm (0-20). In one case, the adrenal gland laid directly on the right renal vein (DR = 0). The average length L, over which the right adrenal gland entered behind the inferior vena cava (IVC), was 8 mm (0-12). In 4 cases, the right adrenal was lateral to the IVC and in 6 cases the length L exceeded 10 mm. On the left side, the mean distance DL, separating the adrenal gland from the left renal vein was 8 mm with extremes ranging from 0 mm to 18 mm. In eleven cases, the adrenal gland laid directly on the left renal vein. The right adrenal gland has a close relationship with the IVC and is often located behind it. This close relationship helps to explain the increased incidence of IVC lesions during surgery. The left adrenal gland has an intimate relationship with the left renal vein and often lies on top of it. This explains the risk of injury to the left renal pedicle during left adrenal surgery.


Adrenal Glands , Vena Cava, Inferior , Humans , Adrenal Glands/blood supply , Vena Cava, Inferior/pathology , Vena Cava, Inferior/surgery , Renal Veins , Retroperitoneal Space , Cadaver
4.
World J Surg ; 47(11): 2776-2783, 2023 11.
Article En | MEDLINE | ID: mdl-37667066

BACKGROUND: Unilateral primary aldosteronism (UPA) is the most frequent surgically curable form of endocrine hypertension. Adrenalectomy is the cornerstone of treatment for UPA, but outcomes after surgery are variable. Aldosteronoma Resolution Score (ARS) is a four-item predictive score for the cure of hypertension after adrenalectomy for UPA and has been demonstrated to be valid in different populations. We aimed in this study to validate the accuracy of this score in a North-African population. METHODS: Between 2000 and 2021, the charts of 71 Tunisian patients who underwent laparoscopic adrenalectomy for UPA were retrospectively reviewed. Postoperative outcomes were assessed using the primary aldosteronism surgical outcome (PASO) criterion. The accuracy of the ARS was determined retrospectively by receiver operating characteristic curve and area under the curve. RESULTS: Thirty-four patients (48%) had complete clinical success according to the PASO criteria. Multivariate regression analysis revealed that the main determinants of complete clinical success were the absence of diabetes (OR: 5.205), a BMI <30 (OR: 4.930), a number of antihypertensive medications ≤2 (OR: 8.667), a plasma ARR >332 (OR: 4.554) and an ARS score ≥3 (OR: 2.056). Cure rates were, respectively, 21.1, 51.6, and 66.6% for patients with a score ARS 0-1, 2-3, and 4-5. The AUC of the ARS was 0.837. CONCLUSION: The ARS is a sufficiently predictive score in our North-African population. It may be used preoperatively to predict the outcome after adrenalectomy in these populations.


Adrenocortical Adenoma , Hyperaldosteronism , Hypertension , Humans , Retrospective Studies , Adrenalectomy , Adrenocortical Adenoma/surgery , Hypertension/etiology , Hypertension/surgery , Hyperaldosteronism/diagnosis , Hyperaldosteronism/surgery , Treatment Outcome
5.
Int J Surg Case Rep ; 110: 108735, 2023 Sep.
Article En | MEDLINE | ID: mdl-37657389

INTRODUCTION AND IMPORTANCE: Our study aims to expose the experience of our department in dealing with bladder leiomyosarcomas and illustrate the management tools of this rare pathology. CASE PRESENTATION: We present a retrospective study of 4 cases of bladder leiomyosarcoma, gathered in the Department of Urology during the period of 1996-2022. All our patients were exclusively male and aged between 35 and 73 years. No history of pelvic irradiation nor chemotherapy was found in our patients. Three patients had high-grade leiomyosarcoma and pT2 stage whereas only one had a low-grade tumour. Three patients underwent radical treatment by cystoprostatectomy with extensive bilateral pelvic lymph node dissection and one patient was treated by endoscopic re-resection and endoscopic monitoring. We noticed 2 lymph nodes and liver metastasis recurrences in 2 patients treated by radical surgery while 2 patients didn't present recurrences at two years of follow-up. CLINICAL DISCUSSION: To date, there is no clear and precise therapeutic approach for the treatment of bladder leiomyosarcoma. Little is known about the long term survival associated with these tumours. All studies agree that the prognosis for bladder leiomyosarcoma is poor, if not diagnosed early, especially those presenting with an undifferentiated tumour grade, distant metastatis and treated without surgical therapy. CONCLUSION: Bladder leiomyosarcoma is a rare and highly aggressive tumour. The anatomopathological examination provides diagnosis and prognosis assessment. Radical surgery remains the most suitable therapeutic approach.

6.
Front Endocrinol (Lausanne) ; 14: 1205988, 2023.
Article En | MEDLINE | ID: mdl-37635962

Introduction: Unilateral primary aldosteronism (UPA) is the most frequent surgically curable form of endocrine hypertension. Adrenalectomy is the cornerstone of treatment for UPA, but outcomes after surgery are variable. The cause of resistant hypertension after surgery is still a matter of debate. Our aim was to investigate cure rates after surgery and to evaluate preoperative factors that might influence the surgical outcome. Methods: Between 2000 and 2021, the charts of 71 Tunisian patients who underwent laparoscopic adrenalectomy for UPA were retrospectively reviewed. Preoperative medical records were collected and follow-up data (1-158 months) were registered. Antihypertensive medication doses were calculated using defined daily doses (DDD) and postoperative outcomes were assessed using the Primary Aldosteronism Surgical Outcome (PASO) criterion. Results: Of 91 enrolled patients, 71 (59% women, mean age 46 years, median length of follow-up 21 months) were suitable for evaluation. Thirty-four patients (48%) had complete clinical success according to the PASO criteria. The most relevant factors associated with complete clinical success on univariate analysis were: absence of diabetes (p= 0.007), low body mass index (BMI) (p= 0.001), lower preoperative DDD (p= 0.01), preoperatively controlled blood pressure (p= 0.024), higher plasma aldosterone to renin ratio (ARR) (p= 0.001), adenoma subtyping (p <0.001) and aldosteronoma resolution score (ARS) (p= 0.002). Multivariate regression analysis showed that the major predictors of complete clinical success were absence of diabetes (OR: 5.205), a BMI < 30 (OR: 4.930), a plasma ARR > 332 (OR: 4.554) and an ARS ≥ 3 (OR: 2.056). Conclusion: Complete and partial clinical response rates were achieved in respectively 48 and 43% of cases. The main predictors of complete resolution of hypertension were absence of diabetes, low BMI, high plasma ARR and high ARS. Taking these factors into account may help identify patients at risk of persistent postoperative hypertension who may require long-term surveillance and medication.


Adrenocortical Adenoma , Hyperaldosteronism , Hypertension , Humans , Female , Middle Aged , Male , Adrenalectomy , Retrospective Studies , Hyperaldosteronism/surgery , Hypertension/etiology
7.
Urolithiasis ; 51(1): 108, 2023 Aug 23.
Article En | MEDLINE | ID: mdl-37612572

In the present study, we aimed to report our single-center experience in encrusted ureteral stent management and to compare the utility of two different scoring systems in patient management. This is a retrospective study of patients who underwent various surgical procedures to remove encrusted ureteral stent. Encrusted stent grading was performed using KUB and FECal grading sytems. FECal grading system scored from Grade 1 to Grade 5 according to stone size, location, and degree of stent incrustation and the KUB score is the sum of the stone burden scores of three different parts of an encrusted stent within the kidney, ureter, and bladder determined using a scale from 1 to 5 according to the maximal diameter of encrustation. We compared these two classifications for the prediction of perioperative outcomes. Fifty patients were included in the study (52% female, mean age 48 years). The mean time from ureteral stent insertion until diagnosis of encrustation was 11.4 ± 13.6 months. High-grade incrustations (FECal Grade 3, 4, and 5) accounted for 62% of cases. The mean KUB score was 9.8 ± 2.7. The average number of procedures required to remove the stent was 1.71 ± 1.38. Multimodal surgery was required to remove 42% of the stents. Both, a total KUB score ≥ 9 and high-grade FECal classification were found to be significant predictors of longer operative time (> 100 min), need for multiple surgeries, and need for invasive surgery. While high-grade FECal classification showed a significant association with need for multimodal surgery (OR 6.92, p = 0.008), a total KUB score ≥ 9 showed no association (OR 2.91, p = 0.086). These two scores seem to be good indicators in predicting difficulties for surgical management of encrusted ureteral stent with a clear advantage of the FECal score in terms of prediction of multimodal surgery.


Ureter , Humans , Female , Middle Aged , Male , Ureter/diagnostic imaging , Ureter/surgery , Retrospective Studies , Kidney , Urinary Bladder , Stents/adverse effects
8.
Patient Saf Surg ; 17(1): 21, 2023 Jul 26.
Article En | MEDLINE | ID: mdl-37496033

BACKGROUND: Intraoperative iatrogenic ureteral injuries represent rare technical surgical complications with the potential for adverse patient outcomes, particularly when the diagnosis is delayed. Ideally, these technical complications are recognized and repaired intraoperatively. This study was designed to investigate the root causes and outcomes of missed intraoperative ureteral injuries at a tertiary urology referral centre in Tunisia. METHODS: This is a retrospective cohort study in a tertiary urology referral centre in Tunis from January 1st, 2015, to December 31st, 2020, including all patients with iatrogenic ureteral injury, not diagnosed intraoperatively. The factors associated with the success of endoscopic treatment and those associated with the unfavourable evolution were investigated. RESULTS: A total of 40 iatrogenic ureteral injuries were included. Gynaecological surgery was responsible for 85% of ureteral injuries, mainly during hysterectomies (55%). The symptoms were dominated by low back pain (37.5%) and pyelonephritis (25%). Endoscopic treatment was attempted in 22 cases, it was sufficient in 12 cases. Ureteral injury required surgical treatment in 24 cases, and ureteroneocystostomy was performed in 16 cases. Nephrectomy was performed in eight cases, representing 20% of injuries, including three cases as the first treatment for late-diagnosed cases with a destroyed kidney. In the analytical study, endoscopic treatment was sufficient in 50% in case of ureteral fistula versus 27% in case of ureteral stenosis (p = 0.04). Nephrectomy was performed in 10% of cases when ureteral injury was diagnosed within the first month postoperatively compared to 60% of cases when this delay exceeded one month (p = 0.004). CONCLUSION: Iatrogenic ureteral injuries discovered postoperatively are mostly secondary to gynaecologic surgery. Although endoscopic treatment is usually performed as a first treatment, a more aggressive surgical is often necessary, with a nephrectomy rate of 20%.

9.
Ann Med Surg (Lond) ; 85(6): 2432-2436, 2023 Jun.
Article En | MEDLINE | ID: mdl-37363469

Pathological kidney trauma is a special entity. Congenital or acquired lesions may interfere with clinical presentation, radiological imaging, and the therapeutic approach. Objective: Our objective was to determine the clinical, radiological, and therapeutic features of this entity. Materials and methods: The medical records of 37 observations were retrospectively collected from January 1992 to February 2022. All cases were explored by a kidney ultrasound and/or a computed tomography scan, and classified according to the American Association of Surgery of Trauma. Pre-existing renal abnormalities were found in 37 patients among 203 (18.2%). The most common underlying lesion were urolithiasis (37.8%) followed by pyelo-ureteral junction syndrome (32.4%). Surgical abstention was decided in 11 cases, four nephrectomies were performed as a matter of urgency, and seven nephrectomies were performed remotely. The cure of uropathy was performed after an average delay of 3 months. Conclusion: Kidneys with underlying pathology are habitually more susceptible to trauma. Contusions are often benign contrasting with a high nephrectomy rate.

10.
Ann Med Surg (Lond) ; 85(4): 722-726, 2023 Apr.
Article En | MEDLINE | ID: mdl-37113869

Hydatid disease is an endemic zoonosis in regions with temperate climates where pastoral farming is common. Retrovesical localization is rare. Given the rarity of this entity, the lack of personal clinical experience, and the difficulty with detecting early symptoms, the diagnosis remains elusive for years. Methods: This is a 30-year retrospective, descriptive and analytic study of seven patients who were hospitalized and operated on in the Department of Urology during 30 years (1990-2019). Outcomes: The average patient age was 54 years (range: 28-76). Signs of bladder irritation were the predominant presenting complaint. No cases of hydaturia were noted. Preoperative diagnosis was based on ultrasonography and serology tests. Hydatid serology was positive for three patients. In three cases, a hydatid cyst of the liver was associated. A partial cystopericystectomy was performed for five patients, it was total for one patient. The resection of the prominent dome was realized once. No cystovesical fistula was found. The mean postoperative stay was 16 days. The postoperative course was uneventful for five patients. Urinary fistula occurred in one patient. One case of infection of the residual cavity was observed. One patient had a retroperitoneal cyst recurrence requiring reoperation. Conclusion: The preoperative diagnosis of retrovesical hydatid cysts is based mainly on ultrasonography. Open surgery is the treatment of choice. Different approaches are possible. Given the rarity of this entity, management should be guided by experienced experts.

11.
Urol Case Rep ; 47: 102371, 2023 Mar.
Article En | MEDLINE | ID: mdl-36910506

Air rifle, although considered as a toy, can cause injuries ranging from trivial to very grievous. The severity of injuries depends on the type of air rifle, the distance of firing, and the anatomic site at which the bullet hits. We present a case involving a young boy, who was accidently hit by an air rifle while playing. The Bullet penetrated the penis through the glans to be lodged in between the distal extremities of the corpus cavernosum behind the urethra. The surgical treatment was performed and the results were good.

12.
J Clin Lab Anal ; 36(9): e24606, 2022 Sep.
Article En | MEDLINE | ID: mdl-35853090

BACKGROUND: Several studies have interrogated the molecular pathways and their interacting genes underlying bladder cancer (BCa) tumorigenesis, yet, the role of homeobox genes is still poorly understood. Specifically, HOXA13, which plays an important role as a major actor in the urogenital tract's development. METHODS: Immunohistochemical (IHC) staining was performed to inspect the differential expression of HOXA13 protein in non-muscle-invasive bladder cancer (NMIBC) and non-tumoral tissues. A semiquantitative scoring system was adopted to evaluate the IHC labeling. Correlation to clinical parameters was performed by descriptive statistics. Overall survival was estimated by the Kaplan-Meier method and Cox regression model. The functional HOX A13 protein association networks (PPI) were obtained using String 11.0 database. RESULTS: HOX A13 exhibited cytoplasmic and nuclear staining. Its expression levels were lower in high-grade NMIBC (HG NMIBC) compared to low-grade ones (LG NMIBC). The expression of HOX A13 was correlated to tumor grade (LG/HG) (p = 0.036) and stage (TA/T1) (p = 0.036). Nevertheless, its expression was not correlated to clinical parameters and was not able to predict the overall survival of patients with HG NMIBC. Finally, PPI analysis revealed that HOX A13 seems to be a part of a molecular network holding mainly PBX1, MEIS, ALDH1A2, HOX A10, and HOX A11. CONCLUSION: The deregulation of HOX A13 is not associated with the prognosis of BCa. It seems to be rather implicated in the early initiation of urothelial tumorigenesis and thus may serve as a diagnostic marker in patients with NMIBC. Further experimentations on larger validation sets are mandatory.


Urinary Bladder Neoplasms , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Carcinogenesis , Humans , Neoplasm Invasiveness , Prognosis , Urinary Bladder Neoplasms/diagnosis , Urinary Bladder Neoplasms/genetics , Urinary Bladder Neoplasms/pathology
14.
J Surg Case Rep ; 2022(1): rjab621, 2022 Jan.
Article En | MEDLINE | ID: mdl-35070268

Liposarcoma of the spermatic cord (LSC) is a rare tumor with no consensus on therapeutic management. This study reports six new cases of LSC. The patients' age ranged from 56 to 80 years. All patients presented with a scrotal mass, and it was ultrasound that oriented the diagnosis. The initial treatment consisted of an inguinal orchiectomy. Anatomopathological study coupled with immunohistochemistry using the anti-MDM2 antibody confirmed that the tumors were well-differentiated LSC in four cases and dedifferentiated LSC in the other two cases. Adjuvant radiotherapy was performed in two patients. No recurrence was noted in these two patients at 14 and 34 months of follow-up. The only recurrence we had was local and occurred at 44 months of follow-up in a patient who had a dedifferentiated form ofLSC.

15.
Urol Case Rep ; 42: 101992, 2022 May.
Article En | MEDLINE | ID: mdl-35059297

Ejaculatory duct reflux is rare and few investigations have focused on this entity, which is usually described in children. This study reports a new case of unilateral ejaculatory reflux in a 32-year-old patient, with a history of urethroplasty at the age of 5 for hypospadias, who presented for right chronic scrotal swelling. Urethrocystscopy showed an anterior urethral stricture and a gaping opening of the right ejaculatory duct. CT scan with opacification through the right ejaculatory duct, showed a dilated right seminal vesicle, associated to a reflux in the right deferent vas and epididymis, which was dilated explaining the scrotal swelling.

16.
Mol Biol Rep ; 49(2): 1233-1258, 2022 Feb.
Article En | MEDLINE | ID: mdl-34854013

BACKGOUND: Bladder cancer (BCa) is a heterogeneous disease caused by the interaction between environmental and genetic risk factors. The goal of this case-control study was to evaluate the implication of a selected SNP panel in the risk of BCa development in a Tunisian cohort. We were also interested in studying the interaction between this predictive panel and environmental risk factors. METHODS: The case/control cohort was composed with 249 BCa cases and 255 controls. The designed Bladder cancer hereditary panel (BCHP) was composed of 139 selected variants. These variants were genotyped by an amplification-based targeted Next-Generation Sequencing (NGS) on the Ion Torrent Proton sequencer (Life Technologies, Ion Torrent technology). RESULTS: We have found that rs162555, rs2228000, rs10936599, rs710521, rs3752645, rs804276, rs4639, rs4881400 and rs288980 were significantly associated with decreased risk of bladder cancer. However the homozygous genotypes for VPS37C (rs7104333, A/A), MPG (rs1013358, C/C) genes or the heterozygous genotype for ARNT gene (rs1889740, rs2228099, rs2256355, rs2864873), GSTA4 (rs17614751) and APOBR/IL27 (rs17855750) were significantly associated with increased risk of bladder cancer development compared to reference group (OR 2.53, 2.34, 1.99, 2.00, 2.00, 1.47, 1.96 and 2.27 respectively). We have also found that non-smokers patients harboring heterozygous genotypes for ARNT/rs2864873 (A > G), ARNT/ rs1889740 (C > T) or GSTA4/rs17614751 (G-A) were respectively at 2.775, 3.069 and 6.608-fold increased risk of Bca development compared to non-smokers controls with wild genotypes. Moreover the ARNT CT (rs1889740), ARNT CG (rs2228099), ARNT TC (rs2864873) and GSS GA genotypes were associated with an increased risk of BCa even in absence of professional risk factors. Finally the decision-tree analysis produced a three major BCa classes. These three classes were essentially characterized by an intensity of tobacco use more than 20 pack years (PY) and the CYP1A2 (rs762551) genotype. CONCLUSIONS: The determined association between environmental factors, genetic variations and the risk of Bca development may provide additional information to urologists that may help them for clinical assessment and treatment decisions. Nevertheless, the underlying mechanisms through which these genes or SNPs affect the clinical behavior of BCas require further studies.


Transcriptome/genetics , Urinary Bladder Neoplasms/diagnosis , Urinary Bladder Neoplasms/genetics , Aged , Aged, 80 and over , Case-Control Studies , Cohort Studies , Female , Gene Expression/genetics , Gene Expression Profiling/methods , Gene Expression Regulation, Neoplastic/genetics , Genetic Predisposition to Disease/genetics , Genetic Testing/methods , Genotype , High-Throughput Nucleotide Sequencing/methods , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics , Risk Factors , Tunisia/epidemiology , Urinary Bladder/pathology
17.
J Clin Lab Anal ; 36(1): e24129, 2022 Jan.
Article En | MEDLINE | ID: mdl-34799866

BACKGROUND: Angiotensin-converting enzyme (ACE) plays a pivotal role in several pathologies including cancers. The association of insertion/deletion (I/D) polymorphism of the ACE gene with prostate cancer (PC) risk remains controversial. We aimed to investigate for the first time, to our Knowledge, in North Africa the potential relationship between ACE I/D polymorphism with PC susceptibility and clinical outcomes of PC patients. METHODS: This case-control study included 143 healthy individuals and 124 patients diagnosed with PC. Using genomic DNA, the samples were genotyped for ACE I/D polymorphism by polymerase chain reaction (PCR). RESULTS: We found that The D allele is significantly associated with an increased risk of PC and D/D + D/I genotypes were at 3 times increased risk of PC ([p = 0.005], OR = 2.95, IC 95% = 1.26-7.09) compared with I/I genotype (p = 0.003, OR = 0.3, IC 95% = 0.12-0.74). We observed an association between D/D and D/I genotypes with advanced age (≥70 years) (p = 0.014; r2  = 0.22). Furthermore, there is a significant prediction of advanced Gleason score ≥8 based on epidemiological parameters and ACE genotype (p = 0.000; R2  = 0.349), although no significant association was observed with stage and metastasis. CONCLUSION: The ACE I/D polymorphism is likely to predispose to PC and could play a role in PC progression and aggressiveness.


Genetic Predisposition to Disease , INDEL Mutation/genetics , Peptidyl-Dipeptidase A/genetics , Prostatic Neoplasms , Aged , Aged, 80 and over , Alu Elements/genetics , Case-Control Studies , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Humans , Male , Middle Aged , Polymorphism, Genetic/genetics , Prostatic Neoplasms/epidemiology , Prostatic Neoplasms/genetics , Tunisia
18.
Mol Genet Genomic Med ; 9(11): e1819, 2021 11.
Article En | MEDLINE | ID: mdl-34549902

BACKGROUND: NAD (P) H: quinone oxidoreductase (1) (NQO1-HGNC: 2874) and myeloperoxidase (MPO-HGNC: 7218) are two enzymes involved in phase II of the xenobiotic metabolism pathway. METHODS: In this study, a case-control analysis was conducted to investigate the relationship between genetic variations in the NQO1 (C609T, rs1800566; IVS1-27 C >G, rs689452) and MPO (G463A, rs2333227) genes and the risk for bladder cancer among Tunisian population. RESULTS: We have found that the MPO 463GA genotype was associated with a decreased risk of developing bladder cancer (p = 0.049; OR = 0.696; 95% CI 0.484-0.999). In contrast, we have found that the NQO1 609CT genotype could increase the risk of bladder cancer patients (p = 0.0039; OR = 1.454; 95% CI = 1.017-2.078). Moreover, patients with "NQO1 609 CT/IVS1-27 CG" genotype show a 2.180-fold increasing risk for developing bladder cancer in comparison to the control group with wild genotype. This OR is estimated at 5.6-fold in smokers patients with "NQO1 609 CT/IVS1-27 CG" genotype. Lastly, study findings suggest that the NQO1 IVS-27 *CG genotype (rs689452) is associated with a risk of progression to muscle invasive bladder cancer. CONCLUSION: Our study suggests that environmental risk factors in association to NQO1 genotypes (NQO1 609 CT/IVS1-27 CG) play an important role in the development of bladder cancer in Tunisian population.


Urinary Bladder Neoplasms , Case-Control Studies , Genetic Predisposition to Disease , Genotype , Humans , NAD(P)H Dehydrogenase (Quinone)/genetics , Polymorphism, Genetic , Urinary Bladder Neoplasms/genetics
19.
Ann Diagn Pathol ; 54: 151808, 2021 Oct.
Article En | MEDLINE | ID: mdl-34438192

PURPOSE: Lamin A is a major component of the nuclear lamina maintaining nuclear integrity, regulation of gene expression, cell proliferation, and apoptosis. Its deregulation in cancer has been recently reported to be associated with its prognosis. However, its clinical significance in non-muscle invasive bladder cancer (NMIBC) remains to be defined. MATERIAL/METHODS: Immunohistochemical staining and RT-qPCR were performed to screen the expression patterns of Lamin A/C protein and Lamin A mRNA respectively in 58 high and low grade NMIBC specimens. RESULTS: Lamin A/C protein was expressed only in the nucleus and less exhibited in NMIBC tissues compared to non-tumoral ones. On the other side, Lamin A mRNA was up-regulated in NMIBC compared to controls. Nevertheless, both expression patterns (protein and mRNA) were not correlated to clinical prognosis factors and were not able to predict the overall survival of patients with high-grade NMIBC. CONCLUSIONS: The deregulation of A-type Lamin is not associated with the prognosis of NMIBC, but it could serve as a diagnostic biomarker distinguishing NMIBC patients from healthy subjects suggesting its involvement as an initiator event of tumorigenesis in our cohort.


Lamins/metabolism , Neoplasm Invasiveness/genetics , Neoplasm Invasiveness/pathology , Neoplasm Recurrence, Local/genetics , Urinary Bladder Neoplasms , Biomarkers, Tumor/metabolism , Female , Gene Expression Regulation, Neoplastic/genetics , Humans , Lamins/genetics , Male , Middle Aged , Neoplasm Recurrence, Local/diagnosis , Neoplasm Recurrence, Local/pathology , Prognosis , RNA, Messenger/genetics , Urinary Bladder Neoplasms/diagnosis , Urinary Bladder Neoplasms/genetics , Urinary Bladder Neoplasms/metabolism
20.
J Surg Case Rep ; 2021(5): rjab195, 2021 May.
Article En | MEDLINE | ID: mdl-34055288

Cancers of extra bladder origin represent between 2 and 12% of bladder neoplasms and are most often secondary to contiguous bladder invasion. Metastasis from distant organs is exceptional, especially from pulmonary adenocarcinoma with <10 cases identified over the last 20 years. We report here a new case of a 55-year-old patient with a recently diagnosed pulmonary adenocarcinoma referred to the urology department for macroscopic hematuria. Computed tomography scan showed, in addition to the lung mass of the right lower lobe with a right mediastinal adenopathy, a thickening of the right lateral bladder wall. Cystoscopy showed inflammatory lesions on the bladder mucosa, which biopsy with immunohistochemical examination revealed to be tumoral proliferation in the lamina propria realizing the same immunohistochemical profile of the primary lung tumor (CK7+/TTF1+/CK20-/PSA-). The patient was treated with palliative platinum-based chemotherapy and unfortunately died 5 months after diagnosis.

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