Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.

BACKGROUND: Osteopetrosis is a group of geneticall heterogeneous disorders resulting from impaired osteoclast function and bone resorption. The identification of specific genetic mutations can yield important prognostic and therapeutic implications. Herein, we present the diagnosis and successful application of hematopoietic stem cell transplantation (HSCT) in a patient with osteopetrosis caused by carbonic anhydrase II deficiency (Intermediate osteopetrosis). CASE PRESENTATION: Herein, we describe a 2.5-year-old male patient born to consanguineous parents who presented at 8-month-old with hydrocephaly, brain shunt, and developmental delay. Later at 9 months old, he was found to have eye disorder such as nystagmus, fracture of the elbow, abnormal skeletal survey, normal cell blood count (CBC), and severe hypocellularity in the bone marrow. Further evaluation showed renal tubular acidosis type 2. Whole-exome sequencing revealed a pathogenic homozygous variant in intron 2 of the carbonic anhydrase 2 gene (CA2) gene (c.232 + 1 G>T). The diagnosis of intermediate autosomal recessive osteopetrosis was established, and allogenic HSCT from his mother, a full-matched related donor (MRD), was planned. The conditioning regimen included Busulfan, Fludarabine, and Rabbit anti-thymocyte globulin. Cyclosporine and Mycophenolate Mofetil were used for graft-versus-host-disease prophylaxis. He Engrafted on day +13, and 95% chimerism was achieved. He is currently doing well without immunosuppressive therapy, now 12 months post HSCT, with normal calcium level and improving visual quality and FISH analysis revealed complete donor chimerism. DISCUSSION: HSCT could be a promising curative treatment for intermediate osteopetrosis and can provide long-term survival. Ongoing challenges in various aspects of HSCT remain to be addressed.

TVT vs. TOT: a comparison in terms of continence results, complications and quality of life after a median follow-up of 48 months.

AIM: To compare the tension-free vaginal tape (TVT) and obturator tape (TOT) procedures in terms of continence results, complications and quality of life after a median follow-up of 48 months. PATIENTS AND METHODS: Two hundred and eight female patients suffering from urodynamically proven urinary incontinence underwent TVT or TOT. The clinicopathologic parameters of the patients included age, body mass index, type of incontinence, onset of incontinence, previous pelvic surgery, parity, menopausal statement, perioperative and postoperative complications and outcome in terms of continence and quality of life. RESULTS: TVT was performed on 48.6% of patients and TOT on 51.4%. The median age was 63.4 and median follow-up period was 48 months. Prior to surgery, stress urinary incontinence (SUI) was diagnosed in 75.7% of patients and mixed incontinence (SUI and urge incontinence) with a predominant SUI in 24.3%. An objective cure rate in patients who underwent TOT was observed in 77.7% of cases and in those who underwent TVT in 81%. The quality of life improved in 80% of cases. There was no significant difference between the procedures in terms of continence results and quality of life. The rate of the complications was significantly higher with the TVT procedure when compared to that of the TOT procedure. CONCLUSIONS: Although there were no significant differences between the two types of procedures in terms of continence results and quality of life, the TOT procedure demonstrates significantly better results in terms of the rate of complications, making it, if indicated, our first choice.

Pyelovesical bypass graft for palliative management of malignant ureteric obstruction: optimizing the technique by percutaneous access to the bladder using a split Amplatz sheath.

OBJECTIVES: To introduce a simple modification to the original technique of pyelovesical bypass graft placement to make the procedure more minimally invasive. METHODS: During the study period 2 patients with malignant ureteric obstruction underwent pyelovesical bypass graft placement using Detour stent (Mentor-Porges). The technique simply comprised tract dilatation of the previously placed percutaneous nephrostomy to place the proximal end of the graft in the renal collecting system, making a subcutaneous tunnel from a 1-cm suprapubic incision to the flank area, percutaneous access to the bladder under fluoroscopic guide and placement of the distal end of the stent into the bladder through a split Amplatz sheath. The operative outcome was analyzed prospectively. RESULTS: Both patients tolerated the procedures well with no intra- and postoperative complications. Renal function remained stable during the follow-up period with acceptable urine output through the urethra. Abdominal wall complications such as fistula formation or pain along the subcutaneous tract as well as stent encrustation did not occur during the follow-up period. CONCLUSIONS: Despite our small sample size and short follow-up period, percutaneous access to the bladder using a split Amplatz sheath during placement of the Detour stent, may be considered as a promising simple modification to optimize the technique by obviating the need for open cystostomy incision.