Correlation between flow cytometry and molecular findings in autosomal recessive chronic granulomatous disease: A cohort study from Oman.

BACKGROUND: Chronic granulomatous disease (CGD) is an X-linked (XL) or autosomal recessive (AR) primary immunodeficiency disease. Respiratory burst assessment by flow cytometry is a rapid test of granulocyte stimulation, and results predict the underlying genotype. This study aims to describe the immune-phenotypic profile of patients with CGD diagnosed in our center and correlate that with underlying genetic mutations. METHODS: Immuno-phenotypic and genetic data on all patients with CGD diagnosed at Sultan Qaboos University Hospital (SQUH) were reviewed. RESULTS: A total of 32 patients were diagnosed with CGD using molecular studies. Genetically confirmed individuals included 1 patient with XL-CGD (a large deletion involving the CYBB and XK genes resulting in a McLeod phenotype), 27 patients with AR-CGD with a c.579G>A (p.Trp193X) mutation at the NCF1 gene, and 4 patients with AR-CGD with a c.784G>A (p.Gly262Ser) mutation at the NCF1 gene. Flow cytometry and molecular results were available for comparison in 26 patients with AR-CGD. The patients with AR-CGD had a range of flow cytometry-generated fluorescent patterns as follows: reduced neutrophil stimulation with a sharp peak (12/26), reduced neutrophil stimulation with a broad peak (11/26), and a complete lack of neutrophil stimulation (3/26). No consistent flow cytometry-generated fluorescent pattern was observed in either of the 2 AR mutations identified in our patients. CONCLUSION: Flow cytometry is a robust test of CGD diagnosis. However, results should be interpreted with caution when predicting the underlying probable genotype, and results need to be complemented with definitive molecular studies.

[RALP: comparison of the oncological and functional outcomes of the intrafascial and the interfascial approaches]. / Résultats carcinologiques et fonctionnels de l'abord interfascial de la prostatectomie robotique comparé avec l'abord intrafascial.

INTRODUCTION: Due to its technical ease and greater precision Robotic Assisted Laparoscopic radical Prostatectomy (RALP) allows a better preservation of the neurovascular bundles, thereby improving functional outcomes. The intrafascial dissection has been proposed to allow a more complete preservation of these bundles. However, this technique harbors a high rate of positive surgical margins, justifying another trend: the interfascial approach. To date, there are still few publications directly comparing these 2 techniques and our study is the first to offer a 2-year follow-up. MATERIALS AND METHODS: Our study focused on a two-hundred patients population divided into two consecutive groups. All the patients were continent preoperatively and had a satisfactory IIEF5 score: (1) Group 1 consisted of 100 patients who underwent RALP with the intrafascial approach. They had a mean age of 60.3 years (45-70). The majority of cancers were of the low or moderate risk group of d'Amico. The mean PSA was 7.43ng/ml. Seventy-five patients had a pT2, 24 a pT3 and one patient had a pT4. (2) Group 2 included 100 patients who underwent RALP with the interfascial technique. Patients had a mean age of 61.6±5.96 years (45-72), and their cancers were mostly of the low or moderate risk groups of d'Amico. The mean PSA was 6.3ng/ml. Seventy-four patients had a pT2, 22 a pT3a, and 4 had a pT3b. All patients were evaluated after one and two years of follow-up. RESULT: Rates of positive surgical margins were 45% and 19% respectively for groups 1 and 2 (P<0.0001). The rates of biochemical failure (PSA>0.2ng/ml) at 2 years were 10% and 3%, respectively for groups 1 and 2 (P=0.0447). At 2 years, 2 patients in group 1 and one patient in group 2 were using 2 or more urinary pads. Erection with or without oral medication was maintained in 65 (65%) and 31 (31%) patients respectively for groups 1 and 2 at one year. At 2 years 86 and 65 patients were having spontaneous erection, respectively in groups 1 and 2 (P=0.0006). In addition, 65 and 55 patients were also capable of sexual penetration, respectively in groups 1 and 2 (P=0.0045). CONCLUSION: The intrafascial approach exposed to a very high rate of positive surgical margins while offering only a little benefit in the erectile function preservation at 2 years compared to the interfascial variant. In our series, we did not notice any significant difference between the two techniques concerning the urinary continence. LEVEL OF EVIDENCE: 5.

[Ipsilateral dual kidney transplantation: a monocentric experience about 15 cases and literature review]. / Bi-transplantation rénale par abord ipsilatéral: expérience d'un centre à propos de 15 patients opérés consécutivement et revue de la littérature.

OBJECTIVE: Our study aimed to support the viability of the concept of Ipsilateral Dual Kidney Transplantation (DKT) by presenting our initial experience and proposing a review of the literature in this subject. METHODS: Fifteen ipsilateral DKT were performed at Nice University Hospital between August 2010 and March 2012. We have described our skin incision preferences, the vascular anastomoses, and the uretero-vesical reimplantation. We have analyzed the operative duration, the cold ischemia time (CIT) of both transplants, the blood transfusion volume, the intraoperative and postoperative complications, the time to diuresis recovery, the hospital stay, and the kinetics of the creatinine clearance until the third postoperative month. We have compared our results with those of the literature. RESULTS: The average CIT of the first transplant (T1) was 17.5 ± 3.3 hours, and that of the second (T2) was 18.4 ± 3.3 hours. The mean operating time was 234 ± 67 minutes. Patients received an average of 2 units of blood during surgery [0-4] and 1.8 units in the postoperative period [0-15]. The complications rate was 26.7% and included an intraoperative T2 artery thrombosis and 3 postoperative complications consistent with a hematoma, a T2 ureteric necrosis and a T2 venous thrombosis. Two transplants were lost (6.7%) and one death (6.7%) was reported on day 40. The average length of hospital stay was 20.9 ± 7.8 days. The mean creatinine clearance values were 12.6 mL/min at D2, 35.6 mL/min at D7, 44.9 mL/min on discharge, and 48.2 mL/min at D90. CONCLUSION: Our results supported the viability of the dual kidney transplantation concept. Furthermore the ipsilateral approach shortened the procedure and limited the surgical trauma by preserving the contralateral iliac fossa, without compromising renal function recovery or increasing morbidity.