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Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects and has a multifactorial etiology that includes both genetic and environmental components. MYH9, the gene coding for the heavy chain of non-muscle myosin II, has been considered as a good candidate gene in NSCL/P on the basis of its expression profile during craniofacial morphogenesis. Reports in an Italian sample, as well as in an ethnically mixed North American sample, of a positive association between single-nucleotide polymorphisms in the MYH9 gene and NSCL/P have provided further support for the role of MYH9 in the development of NSCL/P. In the present study, we aimed to replicate these findings by conducting a family-based association study with seven single nucleotide polymorphisms in MYH9 using a sample of 248 NSCL/P patients and their parents. Single marker analysis resulted in a highly significant association for rs7078. In haplotype analysis, the most significant result was obtained for the SNP combination (rs7078; rs2071731; rs739097; rs5995288). Our results thus confirm the potential involvement of MYH9 in the etiology of NSCL/P in our patients of Central European origin, although further studies are warranted to determine its exact pathogenetic role.

We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10(-24). The odds ratio was 2.57 (95% CI = 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.

Whereas Dysbindin is considered a schizophrenia vulnerability gene, there is no consistency of findings. Phenotype refinement approaches may help to increase the genetic homogeneity and thus reconcile conflicting results. Premorbid adjustment (PMA) has been suggested to aid the phenotypic dissection. Gornick et al. (J Autism Dev Disord 35:831-838, 2005) reported an association between Dysbindin and PMA in US-Caucasian individuals with childhood-onset psychosis. In a sample of 222 adult-onset schizophrenia inpatients from Germany, we could not detect an association between PMA and 36 SNPs in Dysbindin. Our results suggest that genetic variation in Dysbindin may not contribute to the schizophrenia phenotype with an onset beyond childhood. Further studies including even larger samples and more SNPs may be warranted to clarify the relationship between Dysbindin and PMA.

We carried out a genome-wide association study in 296 individuals with male-pattern baldness (androgenetic alopecia) and 347 controls. We then investigated the 30 best SNPs in an independent replication sample and found highly significant association for five SNPs on chromosome 20p11 (rs2180439 combined P = 2.7 x 10(-15)). No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway.

Objective: Since the discovery of the tryptophan hydroxylase 2 gene (TPH2) several studies reported the association of TPH2 genetic variation with bipolar I (BPI) disorder. Our first objective was to replicate the recently described association of a rare functional single nucleotide polymorphism (SNP) (rs17110563) and of a haplotype covering the 5' region of TPH2 with BPI in a sample from the Romanian population. The second objective was to investigate the influence of the phenotypic traits 'age-of-onset' , 'family history', and 'parent-of-origin', defined according to clinical criteria, on the degree of association between TPH2 and BPI., Method: Sixteen TPH2 SNPs were genotyped in a Romanian sample of 198 BPI patients and 180 controls screened for psychiatric disorders. Statistical analysis of the data was performed with Haploview v.3.32 and FAMHAP., Results: The functional SNP rs17110563 (encoding a Pro206Ser substitution) was present in one Romanian BPI patient and absent in controls. SNPs located in the 5'-region (rs11178997, rs11178998, rs7954758) that had earlier been found to be significantly associated with BPI in a German sample were not associated with BPI in the overall Romanian sample at the single-marker level, but gave evidence for association in a subgroup of patients with paternal transmission of the disease at the haplotypic level. Further evidence of association was identified between haplotypes located in the 3'-region of TPH2 and BPI in the overall sample as well as in the subgroups of familial cases, the patient group with paternal transmission, and the patient group with age of onset below or equal to 25 years., Conclusion: These data provide further support for the involvement of genetic variation in TPH2 in the etiology of BPI.

The strobilurin class of fungicides comprises a variety of synthetic plant-protecting compounds with broad-spectrum antifungal activity. In the present study, we demonstrate that a strobilurin fungicide, F 500 (Pyraclostrobin), enhances the resistance of tobacco (Nicotiana tabacum cv Xanthi nc) against infection by either tobacco mosaic virus (TMV) or the wildfire pathogen Pseudomonas syringae pv tabaci. F 500 was also active at enhancing TMV resistance in NahG transgenic tobacco plants unable to accumulate significant amounts of the endogenous inducer of enhanced disease resistance, salicylic acid (SA). This finding suggests that F 500 enhances TMV resistance in tobacco either by acting downstream of SA in the SA signaling mechanism or by functioning independently of SA. The latter assumption is the more likely because in infiltrated leaves, F 500 did not cause the accumulation of SA-inducible pathogenesis-related (PR)-1 proteins that often are used as conventional molecular markers for SA-induced disease resistance. However, accumulation of PR-1 proteins and the associated activation of the PR-1 genes were elicited upon TMV infection of tobacco leaves and both these responses were induced more rapidly in F 500-pretreated plants than in the water-pretreated controls. Taken together, our results suggest that F 500, in addition to exerting direct antifungal activity, may also protect plants by priming them for potentiated activation of subsequently pathogen-induced cellular defense responses.

Background: Antibiotic prophylaxis in necrotizing pancreatitis has recently gained acceptance. Published studies, however, used different antibiotic regimes and some antibiotics penetrated pancreatic tissue or pancreatic necroses only poorly. The aim of this study was to assess the penetration of ciprofloxacin (CIP) into necrotic pancreatic and peripancreatic tissue., Patients and Methods: Serum, pancreatic necroses, peripancreatic fat tissue necroses and infected omental fluid levels of CIP were measured after 51 operations in 14 patients., Results: The median penetration ratio of CIP was 137.5% (range 11-196%) in infected omental bursa fluid, 59.6% (3-214%) in pancreatic necroses and 67.1% (1-250%) in peripancreatic necroses. Chemotherapeutical ratios of CIP as a marker for antimicrobial potency were high against most relevant pathogens in necrotizing pancreatitis., Conclusion: Due to its antimicrobial spectrum and the good penetration into the relevant compartments, CIP may be useful in preventing local infection in necrotizing pancreatitis.

Objective: To review the different aspects of epididymal tumors, with special reference to adenomatoid tumor of the epididymis (mesothelial neoplasm). Two such cases are reported herein., Methods: Two cases of adenomatoid tumor of the epididymis are described. The clinical features, diagnosis and treatment are discussed, within the context of the algorithm recently presented by Pellicé and co-workers., Results/conclusion: Most of the epididymal tumors are benign and treatment using a scrotal approach will suffice. However, inguinotomy should be performed when the benign nature of the tumor cannot be established unequivocally.

Objectives: An uncommon case of clinically occult Leydig cell tumor of the testis is described. The literature is reviewed with special reference to the difficulty encountered in making the diagnosis., Methods/results: The clinical data of a patient with occult Leydig cell tumor of the testis, whose only remarkable feature was a long history of gynecomastia, are presented., Conclusions: A hormonal study and scrotal ultrasound evaluation are essential in the diagnosis of this tumor type and should be performed even in the absence of testicular anomalies on palpation.

Presentation of one case of fibrous pseudotumor of epididymis in a 33 year-old patient. Final diagnosis was achieved after surgical exeresis and its pathoanatomical examination. Etiopathogeny, clinic presentation and therapeutical approach are reviewed. Considering, in general, the clinical inespecificity of intrascrotal processes, we believe it is important to know this entity in order to be in a position to address differential diagnosis with truly neoplastic processes.

A patient with a previous history of left renal colic and no evidence of passing calculi was admitted to hospital for exacerbation of the urinary condition. The IVP and US evaluation revealed a ureteral stop which appeared to be extrinsic on retrograde uretero-pyelography. Surgery disclosed a large urinoma in the lumbar fossa. The compromised ureteral segment was removed and the pathological analysis of the surgical specimen revealed infiltration from adenocarcinoma. A primary tumor was sought early postoperatively due to irregular constipation referred by the patient. Finally, adenocarcinoma of the sigmoid colon was found. Only 8 similar cases of urinoma from extravasation due to ureteral obstruction secondary to a tumor have been reported in the literature up to 1982.

Presentation of one case of bilateral, retroperitoneal, intracystic and spontaneous renal haematoma in a patient with acquired renal cystic disease (ARCD) and renal transplantation with functioning graft. A literature review is made with regard to the association of ARCD and spontaneous renal haematoma in dialysed patients; also an analysis of the etiopathogenic factors, as well as diagnostic and therapeutical approaches to the above association. No reference has been found in the literature of concomitant ARCD, bilateral spontaneous renal haemorrhage and renal transplantation with functioning graft.

We report on a female patient that had undergone extracorporeal shock wave lithotripsy for a staghorn stone. We describe the endourological maneuvers that were performed, but had failed to avoid nephrectomy due to renal fistula with urinoma.

Herein we report a case of pulmonary fibrosis secondary to chronic administration of nitrofurantoin following radical surgery for a bladder tumor and urinary intestinal diversion. The patient developed pulmonary superinfection and acute respiratory failure. She initially responded to treatment, but relapsed after two weeks. She died from the underlying disease.

Leiomyoma of the renal capsule is rare and very difficult to diagnose preoperatively. We report on a patient in whom a solid renal mass had been incidentally detected during ultrasound evaluation for a gastroenterological condition. A CT scan confirmed the presence of a solid mass. The intraoperative biopsy showed it was a benign tumor and conservative surgery was performed. According to the literature, this tumor type has, as yet, not been diagnosed preoperatively. However, some angiographic features may indicate the presence of this condition. This is the fourth case of leiomyoma of the renal capsule reported in the literature and the second case treated by conservative surgery.

A review is made on the characteristics presented by the 45 cases of renal oncocytomas published in the specialized literature in our country, which are compared to major publications on the subject in the international literature in which a recent review reports 200 cases. Also, two new cases are presented. These tumours are included within the 17 benign renal tumours accumulated in our centre (11.7%) accounting for 2.27% of all renal tumours diagnosed by our group. The renal oncocytoma opens a significant controversy with regard to its definitive identity and, therefore, with regard to its possible therapy whether radical or conservative.

Reporting 2 cases of paratesticular embryonal rhabdomyosarcoma with different locations, one epididymal and one in the testicle tunic vaginalis. In both cases a retroperitoneal disease was present at the time of diagnosis. Although the treatment was similar the clinical evolution has been very different. One patient died 3 years after diagnosis with pulmonary metastasis, the other one is still disease-free 7 years after diagnosis. Discussion of the clinical presentation, differential diagnosis and most important the multidisciplinary therapy used in this type of tumours.

A case of solitary, contralateral, asynchronous adrenal metastasis that appeared 5 years following nephrectomy is described herein. To our knowledge, ours is the fifth case reported in the world literature.