Emphysematous Pyelonephritis With Scrotal Extension: An Unusual Case Presentation.

Emphysematous pyelonephritis (EPN) is a suppurative necrotizing form of renal infection with abscess and gas formation in the renal parenchyma and perirenal tissue. EPN with scrotal extension is rare; if not recognized and treated promptly, the clinical course can be severe and life-threatening. The most common causative organism is Escherichia coli and association with diabetes mellitus has been found in almost all cases. Prompt control of blood sugar and intravenous antibiotics are essential steps in management. Here, we report a rare form of extensive EPN extending from the right kidney to the scrotum retroperitoneally in a 47-year-old male with uncontrolled blood sugar. The patient was managed with a right percutaneous perinephric drain with right double J (DJ) stenting. His blood sugar was controlled by subcutaneous insulin. The patient was discharged on day 7 in satisfactory general condition with right percutaneous drainage and right DJ stent in situ.

SPATA16 promoter hypermethylation and downregulation in male infertility.

Spermatogenesis associated 16 (SPATA16) gene plays an important role in acrosome formation. In this study, we analysed SPATA16 promoter methylation in 29 oligozoospermic infertile and 16 normozoospermic fertile sperm samples and in testicular biopsy from 16 non-obstructive azoospermic and 2 obstructive azoospermic individuals. Next, we analysed SPATA16 level in sperm from 8 oligozoospermic infertile, 6 normozoospermic fertile, 9 IVF failed normozoospermic and 10 IVF successful normozoospermic samples by immunoblotting. This was followed by the analysis of SPATA16 expression in testicular biopsy from azoospermic individuals (n = 8) in comparison to normozoospermic individuals (n = 2). Oligozoospermic infertile sperm samples showed significantly higher methylation in the SPATA16 promoter region. Similarly, testicular biopsy from azoospermic men also showed significantly higher level of DNA methylation. Sub-group analysis of infertile sperm and testicular biopsy samples showed a direct correlation between DNA methylation and the degree of spermatogenic impairment. Oligozoospermic infertile samples and IVF failed samples showed reduced SPATA16 expression in comparison to normozoospermic fertile and IVF successful samples, respectively. Human biopsy analysis showed a significant decrease in SPATA16 expression in hypospermatogenesis, maturation arrest and Sertoli cell only syndrome. In conclusion, hypermethylation in SPATA16 promoter shows a highly significant correlation with infertility, which is consistent with its down-regulation in infertility.

Qualitative and quantitative assessment of sperm miRNAs identifies hsa-miR-9-3p, hsa-miR-30b-5p and hsa-miR-122-5p as potential biomarkers of male infertility and sperm quality.

BACKGROUND: In contrast with the preceding stages of the germ cells, spermatozoa are unusually rich in small non-coding RNAs in comparison to the coding RNAs. These small RNAs may have had an essential role in the process of spermatogenesis or may have critical roles in the post-fertilization development. Sporadic efforts have identified a few differentially expressed miRNAs in infertile individuals, which do not replicate in other studies. METHODS: In order to identify miRNAs signatures of infertility or poor sperm quality, we compared miRNA differential expression data across nine datasets, followed by their analysis by real-time PCR in a case-control study. This was followed by the validation of potential biomarkers in yet another set of cases and controls. For this, total RNA was isolated from 161 sperm samples. miRNA expression levels in infertile cases and fertile controls were measured using TaqMan real-time PCR. Meta-analyses of two miRNAs (hsa-miR-9-3p and hsa-miR-122-5p) were performed using Comprehensive Meta-Analysis Software (version 2). All statistical analyses were performed with the help of GraphPad Prism Software (version 8). RESULTS: Literature search identified seven miRNAs (hsa-let-7a-5p, hsa-miR-9-3p, hsa-miR-22-5p, has-miR-30b-5p, hsa-miR-103-3p, hsa-miR-122-5p and hsa-miR-335-5p) showing consistent dysregulation in infertility across a minimum of four studies. In the discovery phase, six miRNAs showed strong association with infertility with four (hsa-miR-9-3p, hsa-miR-30b-5p, hsa-miR-103-3p and hsa-miR-122-5p) showing consistent differential regulation across all sub-groups. Receiver operating characteristic (ROC) curve analysis showed that the area under curve of > 0.75 was achieved by three (hsa-mir-9-3p, hsa-miR-30b-5p and hsa-miR-122-5p) miRNAs. In the validation phase, these three miRNAs showed consistent association with infertility (hsa-mir-9-3p, hsa-miR-30b-5p, and hsa-miR-122-5p). Meta-analysis on hsa-miR-122-5p showed its significant quantitative association with infertility [Hedge's g = -2.428, p = 0.001 (Random effects)]. CONCLUSIONS: Three miRNAs (hsa-miR-9-3p, hsa-miR-30b-5p and hsa-miR-122-5p) have strong linkage with infertility and a high potential as sperm quality biomarkers.

Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.

The aim of this study was to investigate the association of 24 functionally important single nucleotide polymorphisms (SNPs) with male infertility. In this cross-sectional study, we genotyped 24 functionally important single nucleotide polymorphisms in 24 infertility candidate genes in 500 oligo-/astheno-/oligoastheno-/normo-zoospermic infertile men with idiopathic infertility. Sequenom iPlex gold assay was used for genotyping. Sperm count and motility were compared between prevalent genotypes at each test locus. We did not observe any significant difference in the average sperm count between the alternate genotypes for the loci in the KLK3, LRRC6, MEIG1, HSF2, ESR2 and PTIP genes. However, we observed a significant difference in sperm motility between the alternate genotypes for the loci in the LRRC6, MEIG1, HSF2 and PTIP genes. Polymorphisms in the LRRC6 (rs200321595), MEIG1 (rs150031795), HSF2 (rs143986686) and PTIP (rs61752013) genes show association with sperm motility.

Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.

PURPOSE: To identify the contribution of mutations in the Desert Hedgehog (DHH) gene to the disorders of sexual differentiation (DSD) and male infertility. METHODS: The study included a total 430 subjects, including 47 gonadal dysgenesis cases, 6 patients with undescended testis and infertility characterized by azoospermia, 125 infertile male patients characterized by oligoasthenozoospermia, 24 patients with oligoasthenoteratozoospermia, and 200 ethnically matched normozoospermic fertile men who had fathered a child in the last two years. Sequencing of the complete coding region of the DHH gene was undertaken to find its contribution to the DSD and male infertility. RESULTS: We observed four novel mutations in the DHH gene in the cases with different reproductive anomalies. A synonymous substitution, c. 543C>T (p.His181His) was observed in 6.6% oligoasthenozoospermic infertile males and 1.5% normozoospermic fertile control samples (RR = 4.4077, 95%CI 1.19-16.29). Another synonymous substitution, c.990G>A (p.Ala330Ala) was observed in an infertile patient with unilateral undescended testis (case #12). Insertion of G at c.1156insG (p.Arg385fs) was observed in a case with bilateral undescended testis and azoospermia (case #23). In gonadal dysgenesis category, two mutations, insertion of G at c.1156insG (p.Arg385fs) and c.997A>G (p.Thr333Ala) substitution were observed in one case (case #34). These mutations were completely absent in control samples. CONCLUSION: Mutations in the DHH gene impact reproduction with mild mutations affecting fertility, and severe or multiple mutations resulting in gonadal dysgenesis.

Male infertility is not liked with HSF1, HSF2 and UBE2I gene polymorphisms among Indian subjects.

We analysed the polymorphisms at rs78202224 (C/A) for HSF1 gene, rs139496713 (C/T) and rs45504694 (C/A) for HSF2 gene and rs116868327 (G/A) for UBE2I gene in 547 infertile cases (non-obstructive azoospermia = 464, asthenozoospermia = 83) and 419 proven fertile controls of similar age group and ethnicity. SNP genotyping was done using AgenaMassARRY platform (Agena Bioscience, CA). Common, heterozygous, rare genotypes and allelic frequencies were analysed using dominant, recessive and co-dominant models. Data shows no significant association between HSF1, HSF2 polymorphisms and male infertility. However, under dominant (GG vs GA+AA) and co-dominanat (GG vs GA) model, polymorphism at the rs116868327 (G/A) locus in UBE2I gene was found to be linked with asthenozoospermia in males with a significant odd-ratio of 6.91 (confidence interval at 95% was 1.52-31.46; p=0.017). Moreover, frequency of rare allele was higher (2.4%) compared to controls (0.4%). Thus, this data showed a significant risk of developing asthenozoospermic condition in males (Odds ratio= 6.75; Confidence interval at 95%= 1.50-30.49; P= 0.018]. Hence, more number of genotyping studies along with the functional assay in multiple cohorts is needed to validate potential variants associated with male infertility.

Increased Gonadotropins and prolactin are linked to infertility in males.

Infertility has become a significant issue among married couples worldwide. The association of variations in reproductive hormones with infertility is evaluated at a tertiary care hospital in North India. A total of 220 infertile males having infertility longer than one year (cases) and 220 age-matched fertile males with confirmed paternity in past two to three years (controls) were enrolled for the study. Serum levels of LH, FSH, testosterone and PRL were measured by Roche e411 autoanalyzer using electrochemiluminescense immunoassay technique. Significant higher levels of serum hormone (mean±SD) were found in cases vs. controls; LH (9.02±7.81 vs. 5.22±1.45 mIU/ml), FSH (11.45±14.02 vs. 4.09±1.62 mIU/ml) and PRL (199.08±80.79 vs. 127.23±81.64 µIU/ml). However, the serum testosterone level was significantly low in cases associated with male infertility (4.62±2.03 vs. 6.82±2.79 ng/ml). LH, FSH and PRL levels were significantly increased in azoospermic, oligozoospermic and asthenozoospermic infertile males while FSH and PRL were significantly elevated in normozoospermic infertile group. Conversely, mean serum testosterone levels were significantly low in all infertile subgroups in comparison to fertile controls. PRL showed a significant prediction of Normozoospermia (AUC=0.836, Z=4.916, p<0.001) in ROC analysis. Data presented here is interesting, requiring further confirmation using larger samples of multiple cohorts.

Duplication mutation in CHIT1 gene is associated with poor response to medical therapy in patients affected with filarial chyluria.

We explore the impact of CHIT1 gene mutation on clinical, biochemical parameters and response to outcome (remission/failure) of medical treatment in North Indian filarial chyluria (FC) patients. Data of 101 subjects of FC treated medically between March 2013 and April 2016 in whom CHIT1 gene polymorphism was determined were analyzed. Filarial etiology was confirmed by DEC-provocative test, immuno-chromatographic test and IgG/IgM-combo rapid antibody test. CHIT1 gene polymorphism was genotyped by polymerase chain reaction. Of 101 patients (mean age, 36.9±10.28 years; male: female, 3:1.2), 66 experienced remission (Group-A) while 35 experienced relapse or failed to respond (Group-B). A significant association was observed between CHIT1 genotypes and higher grade of disease (p= 0.001). Wild-type, heterozygous and homozygous mutant frequencies of CHIT1 genotypes were 78.6%, 72.5% and 27.8% in remission and 21.4%, 27.5% and 72.2%, in recurrence/failure, respectively. Our results showed that patients with mutant genotype (TT) of CHIT1 gene showed significantly higher rate of recurrence or failure to medical therapy than wild type (HH) genotypes [OR (95% CI) = 9.53 (1.84-49.21), p=0.011]. This preliminary study showed the impact of CHIT1 gene variants on treatment outcome in FC patients. This observation needs to be confirmed using studies with larger numbers of FC patients.

Assessment of long term outcomes after buccal mucosal graft urethroplasty: the impact of chronic kidney disease.

OBJECTIVES: To compare and assess various outcomes and success of buccal mucosal graft urethroplasty (BMGU) in patients with CKD versus patients having normal renal function. MATERIAL AND METHODS: This was a retrospective, single centre study, during period 2013 to 2017. Patients were grouped into two groups. Group 1 had patients with estimated Glomerular Filtration Rate (eGFR)>60mL/min/1.73m2 while group 2 had patients with eGFR <60mL/min/1.73m2. eGFR was calculated according to the MDRD equation. The two groups were compared with regard to various outcomes like length, location of stricture, technique of graft placement, intra-operative blood loss (haemoglobin drop), duration of hospital stay, post-operative complications and recurrence. RESULTS: A total of 223 patients were included in study with group 1 had 130 patients and group 2 had 93 patients. Mean age of patients with CKD were higher (47.49 years versus 29.13 years). The mean follow-up period was comparable between both groups (23.29 months and 22.54 months respectively). Patients with CKD had more post-operative Clavien Grade 2 or higher complications (p=0.01) and a greater recurrence rates (p<0.001) than in non-CKD patients. On multivariate analysis, age and CKD status was significant predictor of urethroplasty success (p=0.004) (OR= 14.98 (1.952-114.94, 95% CI). CONCLUSIONS: CKD patients are more prone to post-operative complications in terms of wound infection, graft uptake and graft failure and higher recurrence rates following BMGU.

Assessment of long term outcomes after buccal mucosal graft urethroplasty: the impact of chronic kidney disease

ABSTRACT Objectives To compare and assess various outcomes and success of buccal mucosal graft urethroplasty (BMGU) in patients with CKD versus patients having normal renal function. Material and Methods This was a retrospective, single centre study, during period 2013 to 2017. Patients were grouped into two groups. Group 1 had patients with estimated Glomerular Filtration Rate (eGFR)>60mL/min/1.73m2 while group 2 had patients with eGFR <60mL/min/1.73m2. eGFR was calculated according to the MDRD equation. The two groups were compared with regard to various outcomes like length, location of stricture, technique of graft placement, intra-operative blood loss (haemoglobin drop), duration of hospital stay, post-operative complications and recurrence. Results A total of 223 patients were included in study with group 1 had 130 patients and group 2 had 93 patients. Mean age of patients with CKD were higher (47.49 years versus 29.13 years). The mean follow-up period was comparable between both groups (23.29 months and 22.54 months respectively). Patients with CKD had more post-operative Clavien Grade 2 or higher complications (p=0.01) and a greater recurrence rates (p<0.001) than in non-CKD patients. On multivariate analysis, age and CKD status was significant predictor of urethroplasty success (p=0.004) (OR= 14.98 (1.952-114.94, 95% CI). Conclusions CKD patients are more prone to post-operative complications in terms of wound infection, graft uptake and graft failure and higher recurrence rates following BMGU.

Primary prostatic extra-gastrointestinal stromal tumor causing giant prostatomegaly.

Prostatic extra-gastrointestinal stromal tumors (E-GIST) are rare mesenchymal tumors with only 9-cases reported in the English literature so far. We herein describe a case of E-GIST causing massive enlargement of the prostate gland. A 55-year-old male was diagnosed with localized prostatic E-GIST causing massive prostatomegaly (1230 cc) during workup for lower urinary tract symptoms (LUTS). The patient was managed with Imatinib mesylate therapy as high anesthetic risks precluded surgery. Given the rarity, E-GISTs should be included in the differential diagnosis of patients presenting with LUTS as it may influence the treatment decisions.

Chyluria in pregnancy: Etiology, diagnosis, and management perspective.

Chyluria is clinically described as passage of milky urine. Chyle is absorbed by intestinal lacteals and is composed of emulsified fats, few proteins, and fibrin in varying proportions. Parasitic chyluria is caused mainly by Wuchereria bancrofti infection. The incidence of chyluria in pregnancy is not uncommon in endemic regions. The literature pertaining tomedical management of chyluria in pregnancy is scant. The antifilarial drugs have potential teratogenic risk and are not recommended in pregnant patients. Hence, there is a management dilemma for managing patients with chyluria during pregnancy. In this review, we have tried to highlight the evidence-based diagnosis and management of chyluria in pregnancy.

Role of Percutaneous Nephrostomy in Bladder Carcinoma with Obstructive Uropathy: A Story Revisited.

OBJECTIVE: To evaluate the role of percutaneous nephrostomy (PCN) in patients of carcinoma bladder presenting with obstructive uropathy. MATERIAL AND METHODS: We evaluated medical records of 33 patients of bladder cancer with obstructive uropathy that presented to a tertiary care hospital in north India from January 2015 to December 2016. Outcome measures included technical success rates, change in blood urea and serum creatinine (measured on Day 1, 7, and 14); and complications of PCN according to Society of Interventional Radiology Guidelines for Percutaneous Nephrostomy. RESULTS: PCN was done in 30 patients. The mean age of patients was 51 years (range 42-67). 24 patients were male and 6 patients were female. The technical success rates for PCN placement were 93.33%. In 12 patients there was no improvement after PCN insertion. Improvement in clinical condition/kidney function occurred in 18 patients. Out of these 6 patients underwent radical cystectomy with ileal conduit formation and palliative radiotherapy/chemotherapy was given to 5 cases. In the remaining 7 patients, after an initial improvement that lasted for 2 weeks after PCN progressive renal dysfunction developed due to malignancy. Minor complications of PCN were seen in 16.6% of patients and major complications were seen in 10 % of cases. CONCLUSION: In selected patients with bladder carcinoma with obstructive uropathy, PCN insertion may improve kidney function tests to normal levels and enable them to receive tumor-specific curative/palliative treatment.

Quick Sequential (Sepsis Related) Organ Failure Assessment: A high performance rapid prognostication tool in patients having acute pyelonephritis with upper urinary tract calculi.

Purpose: To analyze the utility of quick Sequential Organ Failure Assessment (qSOFA) in patients with uro-sepsis due to acute pyelonephritis (APN) with upper urinary tract calculi, we conducted this study. The role of qSOFA as a tool for rapid prognostication in patients with sepsis is emerging. But there has been a great debate on its utility. Literature regarding utility of qSOFA in uro-sepsis is scarce. Materials and Methods: Ours was a retrospective study including 162 consecutive patients who were admitted for APN with upper urinary tract calculi over a 3 and half years (total 42 months) period. We evaluated the accuracy of qSOFA in predicting inhospital mortality and intensive care unit (ICU) admissions and compared this with the predictive accuracy of systemic inflammatory response syndrome (SIRS). We used the Area Under Curve (AUC) of the Receiver Operator Characteristic curve to calculate it and also calculated the optimum cut off for qSOFA score. Results: The overall mortality and ICU admission rates were 7.4% and 12.9%, respectively. qSOFA had a higher predictive accuracy for in-hospital mortality (AUC, 0.981; 95% confidence interval [CI], 0.962-1.000) and ICU admissions (AUC, 0.977; 95% CI, 0.955-0.999) than SIRS. A qSOFA score of ≥2 was an optimum cut off for predicting prognosis. In a multivariate model qSOFA ≥2 was a highly significant predictor of in-hospital mortality and ICU admissions (p<0.001). Conclusions: qSOFA is a reliable and rapid bedside tool in patients with sepsis with accuracy more than SIRS in predicting inhospital mortality and ICU admissions.

Comparison of outcomes in malignant vs. non-malignant ischemic priapism: 12-year experience from a tertiary center.

OBJECTIVE: Data on outcome of patients with ischemic priapism (IP) due to malignant causes are scant. In this study, we compared outcome of patients with malignant vs. non-malignant IP in adult North Indian men. MATERIAL AND METHODS: We analyzed medical records of patients with IP who presented to a large tertiary care referral center from August 2005 to July 2017. RESULTS: Data of 71 patients were analyzed. The median age was 30 years (range 17-65). The average duration of symptoms was 4.39 days (range 1-10). Most common etiology was idiopathic in 29 (40.84%), chronic myeloid leukemia (CML) in 24 (33.80%), and drug-induced in 15 patients. Thirty-eight patients underwent distal shunts, while nine patients underwent proximal shunt procedure. Men with malignant priapism (CML) had significantly lower success rates with interventions, prolonged hospital stay, and higher complications (p<0.05). Most complications after shunt surgery were minor (Clavein grade 1 and 2). After shunt surgery, bleeding at shunt site was observed in 14 cases, and wound infection developed in five patients. Prevalence of erectile dysfunction in patients at follow-up was high. CONCLUSION: Men with malignant priapism (CML) had significantly lower success rates with interventions, prolonged hospital stay, and higher complications than men with non-malignant priapism.

Evaluation of resistive index of the prostate and bladder sonomorphologic parameters as replacements for urodynamics to predict bladder outlet obstruction in patients with lower urinary tract symptoms suggestive of benign prostatic hyperplasia.

OBJECTIVE: This study investigated whether the resistive index (RI) of prostate and bladder sonomorphologic parameters (total prostate volume [TPV], detrusor wall thickness [DWT], intraprostatic protrusion [IPP]) can be used instead of urodynamic studies (UDS) to predict bladder outlet obstruction (BOO) in benign prostatic hyperplasia (BPH) with lower urinary tract symptoms (LUTS). METHODS: Men aged ≥50 years with clinical BPH/LUTS were prospectively enrolled included. Basic evaluations, measurement of sonomorphologic parameters, and UDS were performed in accordance with the International Continence Society's Good Urodynamics Practices protocol. RESULTS: Data of 240 patients were divided into two groups based on the BOO index(BOOI). Group 1 consisted of patients negative for BOO (BOOI <40), whereas Group 2 consisted of patients positive for BOO (BOOI > 40). Patient age, International Prostate Symptom Score (IPSS), quality of life score and post-void residual volume were comparable between the two groups, whereas significant differences were evident in peak flow rate, TPV, DWT, RI, and IPP (P < 0.01 for all). Pearson correlation analysis revealed a significant correlation between BOOI and DWT (r = 0.198, P = 0.002), IPP (r = 0.450, P = 0.000), and RI (r = 0.334, P = 0.000). Multiple regression analysis revealed a significant correlation between BOOI and IPP (ß = 0.382, P = 0.000) and RI (ß = 0.226, P = 0.000). Receiver operating characteristic analysis showed that the area under curve was 0.785 for RI (95% confidence interval [CI] 0.703-0.867, P < 0.001) and 0.905 for IPP (95% CI 0.850-0.961, P < 0.001). At a cut-off value of 7.5 mm for IPP, the sensitivity was 86.9%, specificity was 83.3% and positive predictive value was 92.41%. CONCLUSION: IPP and RI may be the best non-invasive predictors for BOO in selected patients with LUTS/BPH.

Multiple Bladder Calculi in an Incarcerated Genitourinary Prolapse.

Background: Genitourinary prolapse is a common entity in women rarely needing emergency intervention. However, in the rare event of multiple vesicle calculi causing acute incarceration and obstructive uropathy surgical intervention should not be delayed. Case Presentation: We herein present case of a 65-year-old woman who presented with irreducible urogenital prolapse and eventually found to have multiple vesicle calculi with bilateral hydro-ureteronephrosis. The patient underwent an initial suprapubic cystolithotomy with subsequent hysterectomy and prolapse repair. Conclusion: Multiple vesicle calculi may be a cause for an irreducible genitourinary prolapse. For all cases of long-standing prolapse, an imaging in the form of radiographs, ultrasonography, or CT scan should be done to assess the entire urinary tract for other stones, obstruction, and dilatation. A multidisciplinary approach consisting of complete stone removal as well as repair of the prolapsed pelvic organs through a combined abdominal and vaginal route may be necessary to achieve an effective outcome.

Outcome of patients with failed pelvic fracture-associated urethral injury repair: A single centre 10-year experience.

OBJECTIVE: The management of recurrent posterior urethral strictures developing after pelvic fracture urethral injury (PFUI) is a challenging task. Despite availability of many surgical approaches, there is no consensus regarding the optimal approach. The objective of this study was to present our 10-year experience in the management of recurrent urethral strictures due to PFUI. MATERIAL AND METHODS: We did a retrospective single-institution review of patients who underwent surgical management for recurrent posterior urethral strictures from January 2006 to December 2016 using descriptive statistics. We included only those patients with PFUI who underwent some definitive surgical procedure for their previous failed repair(s). RESULTS: The final analysis included data of 50 male patients (10 adolescents and 40 adults). Mean age of the patients was 29.92±10.62 years. The average length of stricture was 3.02±1.47 cm. Progressive perineal urethroplasty (PPU) was done in 40 cases. Two patients with concomitant rectourethral fistula/false passage underwent transpubic urethroplasty (TPU). Three patients with complete bulbar necrosis were managed with single stage/staged preputial tube reconstruction. One patient underwent microsurgical urethroplasty using radial free forearm flap while in two patients each Mitrofanoff appendicovesicostomy and perineal urethrostomy was done. Majority of complications were minor (Clavien Grade 1 and 2). Overall success rate of PPU was 75%. Mean follow-up period was 29.46±10.68 months (range: 13-60 months). CONCLUSION: Most cases of recurrent posterior urethral strictures of <3 cm in length can be operated by PPU with reasonable success rates. Complex and long-segment (higher than 3 cm) strictures require use of ancillary procedures like TPU, substitution urethroplasty and Mitrofanoff appendicovescostomy.

Genetic association of MBL-2 gene polymorphisms with Filarial chyluria.

Lymphatic filariasis has become a significant public health issue in North India. The association of polymorphisms in MBL2 gene with filarial chyluria (FC) is evaluated in the North Indian patients for the first time. Hence, a tertiary care hospital based case-control study was conducted in north India where FC is endemic. Therefore, 186 confirmed patients of FC as cases and 210 age-, sex- and residence-matched subjects as controls were enrolled for the study. Filarial etiology was confirmed using diethylcarbamazine (DEC)-provocation test, immune chromatographic test and IgG/IgM antibody test. MBL2 gene polymorphisms at codon 54 and -221 promoter region were genotyped by PCR followed by RFLP. Wild-type, heterozygous and homozygous mutant frequencies of MBL2 genotype at the codon 54 were 57.5%, 32.8% and 9.7% in the case group and 62.9%, 30.5% and 6.7%, in controls, respectively. The same at the -221 position were 51.1%, 44.1% and 4.8% in FC patients and 44.3%, 40.0% and 15.7% in controls, respectively. Thus, results no significant association between MBL2 polymorphism at codon 54 and FC. However, polymorphism at the -221 promoter region is linked with FC with a significant odd-ratio of 0.27 (confidence interval at 95% was 0.12-0.59; p<0.001). This preliminary finding is intriguing for further confirmation using a larger study with more patients.

Does Harvey-Ras gene expression lead to oral squamous cell carcinoma? A clinicopathological aspect.

BACKGROUND: Harvey-Ras (H-Ras) is an important guanosine triphosphatase protein for the regulation of cellular growth and survival. Altered Ras signaling has been observed in different types of cancer either by gene amplification and/or mutation. The H-Ras oncogene mutations are well reported, but expression of the H-Ras gene is still unknown. OBJECTIVE: This study aimed to examine both protein and messenger-RNA (mRNA) expressions of H-Ras in oral squamous cell carcinoma (OSCC) and analyzed the association with risk habits and the clinicopathological profile of cases. METHODOLOGY: A total of 65 tissue specimens of OSCC (case group) and equal number of normal tissues (control group) were included in this study. H-Ras protein and mRNA expressions were analyzed using immunohistochemical and quantitative real time-polymerase chain reaction techniques, respectively. RESULTS: The H-Ras protein was significantly overexpressed in the oral carcinoma group compared to the normal group (P = 0.03). Most of the OSCC cases showed positive staining with moderate expression, while negative and moderate staining was high in the control group. The majority of H-Ras positive cases were found in individuals with multiple risk habits including tobacco chewing. The risk of H-Ras positivity was 1.46 times higher in smokers than non-smokers. H-Ras positivity increased in cases affected with buccal mucosa site and higher grade of carcinoma. Relative mRNA level of H-Ras was significantly elevated in oral carcinoma as compared with the control group (P ≤ 0.001). Protein and mRNA levels of H-Ras in case group was poorly correlated. CONCLUSION: H-Ras oncogene expression was markedly higher in oral carcinoma, and it can be a prognostic marker and target for an effective molecular therapy.