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.

Effect of aminoguanidine on sciatic functional index, oxidative stress, and rate of apoptosis in an experimental rat model of ischemia-reperfusion injury.

This study was conducted to investigate the potential protective effects of aminoguanidine (AG) on sciatic functional index (SFI), oxidative stress status, and apoptosis index using a rat model of experimental sciatic nerve ischemia-reperfusion injury (I/R). Treatment groups received 150 mg AG/kg body mass, 24 h after the induction of ischemia. After reperfusion for 2, 4, 7, 14, and 28 days, we evaluated measured SFI, plasma antioxidant enzymes, total antioxidant capacity (TAC), malondialdehyde (MDA), and index of apoptosis. SFI was significantly improved on the 7th and 14th day of reperfusion in the AG-treated groups. AG treatment resulted in the significant reduction of MDA levels on the 7th and 14th day of reperfusion. TAC was only increased after 7 days of reperfusion compared with the untreated group. SOD activity was decreased in both the untreated and AG-treated groups by comparison with the control, but did not show a significant change. GPx activity decreased only after 7 days of reperfusion. The maximal rate of apoptosis occurred on the 7th day of reperfusion. Treatment with AG significantly reduced this enhancement. AG exhibits positive effects against sciatic nerve I/R injury, possibly in part because of the protective effects of AG against apoptosis and I/R-induced oxidative stress.

The preventive effect of cannabinoids on reperfusion-induced ischemia of mouse kidney.

Artery occlusion of an organ results in ischemia. When the occlusion is opened and blood flow reinstated there will be tissue injuries identified as reperfusion-induced ischemia (RII). It has been suggested that cannabinoids (CBs) may be involved in the RII. In this study, we assessed the effect of different doses of anandamide analogs and CB receptor agonists: arachidonylcyclopropylamide (ACPA, a CB1 agonist) and JWH133 (a CB2 agonist) in the RII of the mouse kidney. Three doses (0.2, 1 and 5mg/kg, i.p.) of ACPA or JWH133 were used 30min prior initiation of RII. Kidneys were removed 2 and 24h following RII and checked histologically for the grading of ischemic injury. Appropriate control groups were used as well. RII produced lesion comparable with that of ischemia. Different doses of ACPA or JWH133 prevented RII-induced lesions. It is suggestive of the CB system involvement in the kidney RII in mice.

Papaver Rhoeas L. Hydroalcoholic Extract Exacerbates Forced Swimming Test-Induced Depression in Mice.

INTRODUCTION: Depression is one of the most frequent psychiatric disorders in the world with occurs with higher incidence in women. In the present study, the effect of water-alcoholic extract of Papaver rhoeas L. on forced swimming test (FST) in Swiss-Webster mice were examined. METHODS: We used Swiss-Webster mice (20-25 g) to execute FST on them. The plant extract (1, 10, 30, and 100 mg/kg) was injected to the animals 30 minutes before each session. Fluoxetine (20 mg/kg) was used as standard antidepressant drug. In another group of animals, 30 minutes after extract administration, blood samples were taken from retro-orbital sinus for corticosterone assay. Yet in third group, the drugs were injected to the animals and 30 minutes later, their activities were tested in an open field apparatus. RESULTS: Our experiments showed that the extract efficiently reduced FST time both in male and female mice dose-dependently. This effect was comparable with fluoxetine. In addition, corticosterone assay indicated that plasma corticosterone in animals which received extract was higher than those amounts in fluoxetine and saline controls. Moreover, the animals did not show any motor activity deficit in all doses of the extract and fluoxetine compared to saline control. CONCLUSION: The extract of Papaver rhoeas can reduce immobility time which is comparable to the effect of fluoxetine. Also the effect of the extract is contrary to its effects on plasma corticosterone level and or animals' activity.

GABA(A) receptors in the basolateral amygdala are involved in mediating morphine reward.

In the present study, the effects of intra-basolateral amygdala (BLA) injection of GABA(A) receptor agonist and antagonist on morphine-induced conditioned place preference (CPP) in male Wistar rats have been investigated. Subcutaneous (s.c.) administration of different doses of morphine sulfate (1-9 mg/kg) produced a dose-dependent CPP. Using a 3-day schedule of conditioning, it was found that the GABA(A) receptor agonist, muscimol (0.125, 0.25 and 0.5 microg/rat) or the GABA(A) receptor antagonist, bicuculline (0.125, 0.25 and 0.5 microg/rat), did not produce a significant place preference or place aversion. Intra-BLA administration of muscimol (0.25 and 0.5 microg/rat) decreased the acquisition of CPP induced by morphine (6 mg/kg). On the other hand, intra-BLA injection of bicuculline (0.25 and 0.5 microg/rat) in combination with an ineffective dose of morphine (1 mg/kg) elicited a significant CPP. The response of different doses of muscimol was attenuated by bicuculline (0.125 and 0.25 microg/rat). Furthermore, intra-BLA administration of bicuculline but not muscimol before testing significantly decreased the expression of morphine (6 mg/kg)-induced place preference. The administration of the higher doses of bicuculline (0.25 and 0.5 microg/rat) during acquisition and the higher dose of muscimol (2 microg/rat) on the test day decreased the locomotor activity of the animals on the testing phase. It can be concluded that GABA(A) receptors in the amygdala are involved in morphine reward.

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.

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.

Circumferential resonance modes of solid elastic cylinders excited by obliquely incident acoustic waves.

When an immersed solid elastic cylinder is insonified by an obliquely incident plane acoustic wave, some of the resonance modes of the cylinder are excited. These modes are directly related to the incidence angle of the insonifying wave. In this paper, the circumferential resonance modes of such immersed elastic cylinders are studied over a large range of incidence angles and frequencies and physical explanations are presented for singular features of the frequency-incidence angle plots. These features include the pairing of one axially guided mode with each transverse whispering gallery mode, the appearance of an anomalous pseudo-Rayleigh in the cylinder at incidence angles greater than the Rayleigh angle, and distortional effects of the longitudinal whispering gallery modes on the entire resonance spectrum of the cylinder. The physical explanations are derived from Resonance Scattering Theory (RST), which is employed to determine the interior displacement field of the cylinder and its dependence on insonification angle.