Effect of SAMe-TT2R2 score and genetic polymorphism on the quality of anticoagulation control in Qatari patients treated with warfarin

Journal of Thrombosis and Thrombolysis - There is no strong evidence on pharmacogenetics role on the quality of INR control after the initiation phase and on the maintenance of stable INR on the...     

Vitamin D receptor gene polymorphism as possible risk factor in rheumatoid arthritis and rheumatoid related osteoporosis

Objective

To study the role of VDR polymorphisms as risk factor for RA and osteoporosis, and whether osteoporosis complicating RA is due to RA or VDR polymorphisms.

Methods

VDR gene polymorphisms ApaI, TaqI, BsmI and FokI were typed by RFLP for 128 RA patients, 30 postmenopausal osteoporotic females and 150 healthy controls.

Results

Significant differences were found between patients and healthy controls in the frequency of BsmI and TaqI (Pc < 0.05) but no significant associations were found for FokI and ApaI polymorphisms except for aa genotype (Pc < 0.001). Titers of RF were higher with aa and bb genotypes. Anti-CCP and CRP levels were higher with aa genotype and more bone loss was associated with Bb genotype. Ff genotype frequency was higher in RA patients with osteoporosis than those without osteoporosis.

Conclusions

The ApaI, BsmI and TaqI polymorphisms may be a susceptibility risk factors for RA and the Ff genotype may be responsible for development of osteoporosis in RA Egyptian patients. However, the present study needs to be replicated in a large number of patients from allover the Egypt and also in multi-ethnic populations.     

Adapalene gel 0.1% vs ketoconazole cream 2% and their combination in treatment of pityriasis versicolor: A randomized clinical study

Pityriasis versicolor (PV) is a chronic superficial fungal infection. Management using azole drugs leads to drug resistance. The present study aimed to compare the clinical outcome of 0.1% adapalene gel vs 2% ketoconazole cream and their combination in PV. This randomized double‐blinded study was conducted on 90 PV patients divided into three equal groups. GI was treated with topical ketoconazole 2% cream twice daily and placebo, GII was treated with topical 0.1% adapalene gel twice daily and placebo and GIII was treated with topical combination of 0.1% adapalene gel (at night) and ketoconazole 2% cream (in the morning). All patients received medications for 4 weeks. Evaluation was done at 2 and 4 weeks and included clinical assessment, laboratory assessment, and patient satisfaction. We found that after 4 weeks of treatment, all groups showed significant improvement. There was better response in GIII in terms of lower rate of positive potassium hydroxide staining, higher rate of significantly improved cases and higher rate of well‐satisfied patients. However, the difference fell short of statistical significance. We concluded that a combination of adapalene gel and ketoconazole cream is very effective in treatment of PV with no or mild side effects.     

Bone marrow manifestations in multicentric Castleman disease

This study aimed to document the morphological and immunophenotypic features, and describe the diagnostic features of bone marrow (BM) involvement in human herpes virus 8 Multicentric Castleman disease (HHV8‐MCD). BM trephine biopsy (BMTB) specimens from 28 patients were revisited. Samples were evaluated for expression of CD3, CD20, CD138, CD68R, glycophorin C, CD42b, HHV8‐latency‐associated nuclear antigen (LANA1), Epstein–Barr virus‐encoded small RNA and light chains. Presence of significant numbers of HHV8‐LANA1⁺ lymphoid/plasmacytic cells, noted in 10/28 cases, was indicative of BM involvement and was associated with low CD4 and CD8 counts in peripheral blood. The characteristic morphological appearance of MCD seen in lymph nodes is a rare finding in BMTB. 4/5 cases with lymphoid aggregates were involved by MCD, whereas 6/23 cases without lymphoid aggregates were involved by MCD (P = 0·023). 9/18 cases with hypercellular marrow were involved by MCD, whilst only 1/8 cases with normo/hypocellular marrow showed involvement by MCD (P = 0·070). While 9/21 cases with increased marrow reticulin were involved by MCD, none of the cases with no increase in reticulin were involved by MCD (P = 0·080). Reactive plasmacytosis is a frequent finding. We conclude that bone marrow is involved in a significant proportion of patients with MCD (36%), and involvement can be identified by HHV8‐LANA1 immunohistochemistry.     

Laparoscopic radical nephroureterectomy: results of an international multicenter study

OBJECTIVE: To report a multicenter analysis after laparoscopic radical nephroureterectomy for pathologically confirmed upper tract transitional cell carcinoma. MATERIALS AND METHODS: A total of 116 patients (72 males; mean age 68 years) underwent laparoscopic radical nephroureterectomy at five international institutions: 51 transperitoneally, 65 retroperitoneally. Location of the primary tumor was pelvicalyceal in 70 patients (60%), ureteral in 27 (23%), and multifocal in 19 (17%). In 18 patients (15%), transurethral resection was performed for concomitant bladder tumor. The median follow-up time was 25 months (range 3-93). A minimum follow-up of 1 and 2 years was available in 77 and 41 patients, respectively. RESULTS: Five patients (4%) were converted to open surgery. The specimen was extracted intact in all 116 patients: using an Endocatch bag in 78 patients, a Lapsac in 5, and manually in 33. Pathologic staging was pTis in 5 (4%), pTa in 41 patients (35%), pT1 in 31 (26%), pT2 in 18 (15%), pT3 in 16 (13%), and pT4 in 5 (4%). Pathological grade was grade I in 26 patients (23%), grade II in 41 (35%), grade III in 34 (29%) and grade IV in 15 (12%). Histopathology revealed a positive surgical margin in five patients (4.5%): renal hilum (one), periureteral soft tissue (two), distal edge of the ureter/ bladder cuff (two). Local recurrence was noted in two patients (1.7%). Bladder recurrence was noted in 28 patients (24%) with a mean time to recurrence of 13.9+/-11.5 months. Distant metastases occurred in 11 patients (9%): lung (5), liver (3), bones (2), adrenal (1); mean time to metastasis was 13 months. Overall, 23 patients (20%) died. One-year and 2-year cancer-specific survival was 92% and 87%, respectively. Two-year cancer-specific survival according to pathologic stage was 89% for patients with pT1 disease, 86% for pT2, 77% for pT3, and 0% for pT4 (p=0.0001). Two-year survival according to pathologic grade was 88% for grade I, 90% for grade II, 80% for grade III, and 90% for grade IV (p>0.05). CONCLUSION: Laparoscopic radical nephroureterectomy appears to be an effective minimally invasive treatment for select patients with upper tract transitional cell carcinoma. Although the 2-year survival data reported herein are encouraging, longer follow-up is needed before laparoscopy can be considered as a standard treatment.     

Neurokinin A level in hypoxic–ischemic encephalopathy

Background: The present study was performed to investigate the effect of neonatal hypoxic–ischemic encephalopathy (HIE) on the neurotransmitter neurokinin A (NKA) and determine its relation to the severity of neonatal hypoxia. Methods: Eighteen neonates suffering from HIE were compared to 10 clinically healthy full‐term neonates acting as the control group. Maternal history of each neonate was collected, then deliveries were attended, resuscitation details including the Apgar score and thorough clinical examination of the neonates were performed. Routine laboratory work‐up was done for the enrolled neonates, including complete blood count and C‐reactive protein as well as estimation of NKA by enzyme‐linked immunosorbent assay in the cord blood and after clinical stabilization. Results: NKA was significantly lower in HIE patients compared to the controls at delivery with improvement in the follow‐up sample. Additionally, the maximum decrease was detected in the neonates who suffered severe hypoxia compared to those who suffered mild hypoxia. Significant positive correlations were demonstrated between NKA at birth and Apgar scores at the 10th and 15th min. Regression showed that stage of HIE was the strongest determinant factor for the level of NKA at birth. Conclusion: NKA levels are decreased in HIE and this is more profound in the severe degrees of hypoxia compared to the mild ones. This emphasizes its role in pathogenesis of HIE and further proves that an imbalance in the central neuropeptide system results from HIE in the neonatal period.     

Neuromuscular scoliosis treated by segmental third-generation instrumented spinal fusion

We aimed to investigate whether the outcome and complications of surgical treatment of neuromuscular curves with segmental third-generation instrumentation could compare with those reported with standard second-generation instrumentation. The clinical and radiologic data of a single surgeon's consecutive series of patients with neuromuscular scoliosis treated with two types of newer-generation instrumentation and posterior or anteroposterior approaches were retrospectively and independently reviewed. The results of this study support the concept that third-generation instrumentation is able to provide at least as good results as second-generation instrumentation in the treatment of neuromuscular scoliosis patients, at the expense of a lower complication rate.