Association of candidate gene polymorphisms with milk technological traits, yield, composition, and somatic cell score in Italian Holstein-Friesian sires.

Advances in DNA-based marker technology have enabled the identification of genomic regions underlying complex phenotypic traits in livestock species. The incorporation of detected quantitative trait loci into genetic evaluation provides great potential to enhance selection accuracies, hence expediting the genetic improvement of economically important traits. The objective of the present study was to investigate 96 single nucleotide polymorphisms (SNP) located in 53 candidate genes previously reported to have effects on milk production and quality traits in a population of highly selected Holstein-Friesian bulls. A total of 423 semen samples were used to genotype the bulls through a custom oligo pool assay. Forty-five SNP in 32 genes were found to be associated with at least 1 of the tested traits. Most significant and favorable SNP trait associations were observed for polymorphisms located in CCL3 and AGPAT6 genes for fat yield (0.037 and 0.033 kg/d, respectively), DGKG gene for milk yield (0.698 kg/d), PPARGC1A, CSN1S1, and AGPAT6 genes for fat percentage (0.127, 0.113, and 0.093%, respectively), GHR gene for protein (0.064%) and casein percentage (0.053%), and TLR4 gene for fat (0.090%), protein (0.066%), and casein percentage (0.050%). Somatic cell score was favorably affected by GHR (-0.095) and POU1F1 (-0.137), and interesting SNP-trait associations were observed for polymorphisms located in CSN2, POU1F1, and AGPAT6 genes for rennet coagulation time (-0.592, -0.558, and -0.462 min, respectively), and GHR and CSN2 genes for curd firmness 30 min after rennet addition (1.264 and 1.183 mm, respectively). In addition to the influence of individual SNP, the effects of composite genotypes constructed by grouping SNP according to their individual effects on traits considered in the analysis were also examined. Favorable and significant effects on milk traits were observed for 2 composite genotypes, one including 10 SNP and the other 4 SNP. The former was associated with an increase of milk (0.075 kg/d), fat (0.097 kg/d), protein (0.083 kg/d), and casein yields (0.065 kg/d), and the latter was associated with an increase of fat (0.244%), protein (0.071%), and casein percentage (0.047%). Although further research is required to validate the identified SNP loci in other populations and breeds, our results can be considered as a preliminary foundation for further replication studies on gene-assisted selection programs.

Pattern of association between endemic Hawaiian fruit flies (Diptera, Tephritidae) and their symbiotic bacteria: Evidence of cospeciation events and proposal of "Candidatus Stammerula trupaneae".

Several insect lineages have evolved mutualistic association with symbiotic bacteria. This is the case of some species of mealybugs, whiteflies, weevils, tsetse flies, cockroaches, termites, carpenter ants, aphids and fruit flies. Some species of Tephritinae, the most specialized subfamily of fruit flies (Diptera: Tephritidae), harbour co-evolved vertically transmitted, bacterial symbionts in their midgut, known as "Candidatus Stammerula spp.". The 25 described endemic species of Hawaiian tephritids, plus at least three undescribed species, are taxonomically distributed among three genera: the cosmopolitan genus Trupanea (21 described spp.), the endemic genus Phaeogramma (2 spp.) and the Nearctic genus Neotephritis (2 spp.). We examined the presence of symbiotic bacteria in the endemic tephritids of the Hawaiian Islands, which represent a spectacular example of adaptive radiation, and tested the concordant evolution between host and symbiont phylogenies. We detected through PCR assays the presence of specific symbiotic bacteria, designated as "Candidatus Stammerula trupaneae", from 35 individuals of 15 species. The phylogeny of the insect host was reconstructed based on two regions of the mitochondrial DNA (16S rDNA and COI-tRNALeu-COII), while the bacterial 16S rRNA was used for the symbiont analysis. Host and symbiont phylogenies were then compared and evaluated for patterns of cophylogeny and strict cospeciation. Topological congruence between Hawaiian Tephritinae and their symbiotic bacteria phylogenies suggests a limited, but significant degree of host-symbiont cospeciation. We also explored the character reconstruction of three host traits, as island location, host lineage, and host tissue attacked, based on the symbiont phylogenies under the hypothesis of cospeciation.

GastroPanel® test for non-invasive diagnosis of atrophic gastritis in patients with dyspepsia.

AIM: Atrophic gastritis (AG), first step in the cascade leading to gastric adenocarcinoma, is related to Helicobacter pylori (H. pylori) infection. Currently, the gold standard for the diagnosis of AG is esophagogastroduodenoscopy (EGD) with histological examination of the biopsy specimens. However, since the latter are taken in random order and the distribution of AG is often patchy, histology is only representative of mucosal status. Considering this limitation, a test named GastroPanel®, that measures the blood concentrations of pepsinogen I and II, gastrin-17 and H. pylori antibodies, has been developed as a potential non-invasive biopsy. Aim of this study has been to assess the accuracy of GastroPanel® in patients with AG. METHODS: Forty-seven dyspeptic patients (24 males, mean age 52.2±9.3 years), in follow-up for antral or diffuse AG, were enrolled. All underwent at least two EGDs with random biopsies and blood collection for GastroPanel® parameters examination. RESULTS: Of the 47 patients, 16 (34.1%) had histological diagnosis of antral and 31 (65.9%) multifocal AG; 17 (36.2%) patients had mild and 30 (63.8%) had moderate-severe AG. H. pylori was detected in 39 (82.9%) and intestinal metaplasia was found in all patients. GastroPanel® showed 82.9% sensitivity for the diagnosis of AG and 53.8% for the diagnosis of H. pylori infection. The prediction of advanced atrophy was not sufficiently accurate, neither in patients with antral nor in those with multifocal AG. CONCLUSION: GastroPanel® can be useful for detecting patients with AG. However, it does not reflect the severity of atrophy.

Endoscopic mucosal resection in high- and low-volume centers: a prospective multicentric study.

BACKGROUND: Endoscopic mucosal resection (EMR) is an effective therapeutic technique well-standardized worldwide for the treatment of gastrointestinal neoplasm limited to the mucosal layer. To date, no study has compared technical and clinical differences based on the number of EMRs performed per year. This study aimed to compare EMR technical success, complications, and clinical outcome between low-volume centers (LVCs) and high-volume centers (HVCs). A total of nine endoscopic centers were included in the study. METHODS: This prospective study investigated consecutive patients with sessile polyps or flat colorectal lesions 1 cm or larger referred for EMR. RESULTS: A total of 427 lesions were resected in 384 patients at nine endoscopic centers. Males accounted for 60.4% and females for 39.6% of the patients. Most of the EMRs (84.8%) were performed in HVCs and only 15.2% in LVCs. All the lesions were resected in only one session. Argon plasma coagulation was performed on the margins of piecemeal resection in 15.7% of the patients in HVCs only. Complete excision was achieved for 98.6% of the lesions in HVCs and 98.8% of the lesions in LVCs. The complication rate was 4.4% in HVCs and 4.6% in LVCs (p = 0.94). Delayed bleeding occurred in 2.5% of the HVC cases and 3.1% of the LVC cases. Perforation occurred in 1.9% of the HVC cases and 1.5% of the LVC cases (p = 1.00). Recurrences were experienced with 15% of the lesions: 15.5% in HVCs and 14% in LVCs (p = 0.79). CONCLUSIONS: The study showed that EMR can be performed also in LVC.

Sentinel node mapping during laparoscopic distal gastrectomy for gastric cancer.

BACKGROUND: The goal of this study was to evaluate the feasibility and accuracy of sentinel node (SN) mapping with endoscopic submucosal blue dye injection during laparoscopic distal gastrectomy for gastric cancer. METHODS: Thirty-four patients affected by gastric adenocarcinoma without gross clinical serosal invasion and distant metastasis were prospectively enrolled. At the start of the surgery, 2 ml of 2% patent blue was endoscopically injected into the submucosal layer at four points around the site of the primary tumor. Sentinel nodes were defined as nodes that were stained by the blue dye within 5-10 min after the dye injection. After identification and removal of sentinel lymph nodes, each patient underwent laparoscopic distal gastrectomy with D1 (n = 2) or D2 (n = 32) lymphadenectomy. RESULTS: Of the 34 patients, 14 had positive nodules (41%). SNs were detectable as blue nodes in 27 (80%) of 34 patients. The mean number of dissected lymph nodes per patient was 31 +/- 10 (range = 16-64) and the mean number of blue nodes was 1.5 (range = 1-4). Only five (sensitivity 36%) of 14 N(+) patients had at least one metastatic lymph node among the SNs identified. In these 14 patients the sentinel node was traced in 12 cases. Sentinel node status diagnosed the lymph node status with 74% accuracy. In early gastric cancer (n = 18), three patients had lymph node metastasis. These early gastric cancer patients with nodal metastases had at least one metastatic lymph node among the SNs identified (sensitivity 100%). CONCLUSIONS: Blue dye SN mapping during laparoscopic distal gastrectomy seems to be a feasible and accurate diagnostic tool for detecting lymph node metastasis in patients with early-stage gastric cancer in which the accuracy of the method was 100%. However, in more advanced gastric cancer the results are not satisfactory. Validation of this method requires further studies on technical issues, including selection of the tracers.

Development and validation of a novel SNP panel for the genetic characterization of Italian chicken breeds by next-generation sequencing discovery and array genotyping.

The aim of this study was to compare the intra and inter genetic variability and population structure of 7 indigenous chicken breeds of the Veneto region, through a novel panel of 64 SNP, each located in an exonic region and mostly on different chromosomes. A total of 753 blood samples from 7 local chicken breeds (Ermellinata di Rovigo, Millefiori di Lonigo, Polverara, Pepòi, Robusta Lionata, Robusta Maculata, and Padovana) was collected and analyzed. Two strains of Polverara (Nera and Bianca) and Padovana (Dorata and Camosciata) were included in the study. The observed heterozygosity ranged from 0.124 (Pèpoi) to 0.244 (Ermellinata di Rovigo), and the expected heterozygosity varied from 0.132 (Millefiori di Lonigo) to 0.300 (Ermellinata di Rovigo). Global FIS results (0.114) indicated a low-medium inbreeding effect, with values ranging from 0.008 (Millefiori di Lonigo) to 0.223 (Ermellinata di Rovigo). Pairwise FST values (0.167) for all populations ranged from 0.020 (Polverara Nera and Polverara Bianca) to 0.193 (Robusta Lionata and Polverara Nera), indicating that the studied breeds were genetically highly differentiated. The software STRUCTURE was used to detect the presence of population substructures, and the most probable number of clusters (K) of the 10 chicken populations was at K = 8. The affiliation was successful in all Veneto chicken breeds. The present SNP marker results, compared with previous data obtained using microsatellites, provided a reliable estimate of genetic diversity within and between the studied breeds, and demonstrated the utility of the proposed panel as a rapid, efficient, and cost-effective tool for periodical monitoring of the genetic variability among poultry populations. In addition, the present SNP panel could represent a resource for a systematic approach with relevant impact on breeding program decisions and could turn out to be a reliable tool for genetic traceability of indigenous chicken meat. Adoption of a periodical monitoring system of genetic diversity is a fundamental tool in conservation actions and should increase the value of typical and niche products.

Expression of a highly conserved protein, p27BBP, during the progression of human colorectal cancer.

The highly conserved protein p27BBP is a cytoplasmic interactor of integrin beta4 expressed in epithelia. p27BBP is found in two pools: one nuclear pool enriched in the perinucleolar region, and one cytoplasmic pool. Deletion of p27BBP in yeast is lethal as a result of loss of the ribosomal 60S subunit. The aim of this study was to investigate the distribution of p27BBP in gut epithelium and its behavior during progression of human colorectal carcinomas. Results indicated that p27BBP is high in rapidly cycling cells and decreased in villous cells committed to apoptotic cell death. In dysplastic adenomas and carcinomas, p27BBP displayed a large increase of its nucleolar component that was superimposable to argyrophylic nucleolar organizing region-associated proteins and was associated with the nuclear matrix. Western blotting confirmed increased p27BBP in dysplastic adenomas and in carcinomas. In particular, p27BBP increased progressively from adenomas to carcinomas and, in the latter, was related to the tumor stage. The overexpression of p27BBP corresponded to mRNA up-regulation in carcinomas, supporting the idea of transcriptional or post-transcriptional regulation of its expression. Results suggested that p27BBP alterations are an early event in the transition from benign to malignant colorectal phenotypes and provide a novel tool in surgical pathology.

Prognostic significance of the histopathologic recognition of low- and high-grade components in stage I-II B-cell gastric lymphomas.

The prognostic value of histopathologic features was assessed in 83 patients with stage I-II gastric B-cell lymphomas (PGL). The following histotypes were considered: low-grade mucosa-associated lymphoid tissue (MALT)-type lymphoma (LGML; n = 35), diffuse large B-cell lymphoma with areas of MALT-type lymphoma (DLCLML; n = 20) and diffuse large B-cell lymphoma without areas of MALT-type lymphoma (DLCL; n = 28). Low-grade (LG) and high-grade (HG) components, lymphoepithelial lesions (LEL), size of cells giving rise to LEL, and amount and growth pattern of large cells (LC) were analyzed. Five-year cause-specific survival (CSS) for patients with LGML, DLCLML, and DLCL were 94%, 84%, and 64%, respectively (p = 0.05). LG component or LEL were associated with a significantly longer 5-year CSS, whereas the presence of an HG component, defined as clustered LC greater than 10% of neoplastic population, was significantly related to a shorter survival. Lymphomas with LC disposed in clusters were associated with a worse survival in comparison with cases with scattered LC. The presence of scattered LC 5%-10% appeared irrelevant in LGML. When analysis was limited to DLCLML/ DLCL patients, the presence of LG component or LEL was associated with a significantly longer 5-year CSS, whereas the existence of LEL formed by LC (HG LEL) did not modify survival. Multivariate analysis, adjusted by the main prognostic factors, confirmed the independent and significant association between histopathologic categorization and survival. Age, stage, lactate dehydrogenase (LDH) ratio, thrombocytopenia, and use of chemotherapy had independent prognostic value. In conclusion, histopathologic categorization is an independent prognosticator in PGL. The formation of compact clusters by LC, rather than their amount, is a true prognostic variable. The presence of scattered LC 5%-10% appears irrelevant in LGML. LG component and LEL are favorable predictors in HG lymphomas, helping to identify two subsets of DLCL with different prognosis.

Axonal elongation into peripheral nerve grafts between thalamus and somatosensory cortex of the rat. An experimental model.

After destruction of the thalamocortical projections of one side in 12 adult rats, the ipsilateral thalamic ventrobasal nucleus was connected with the contralateral somatosensory cortex through an autologous peripheral nerve graft. Three months after the implanting procedure, horseradish peroxidase was applied to the transected nerve. Retrograde labeling of cells occurred in all examined animals. Evidence of newly formed thalamocortical connections provides the experimental basis to a model suitable for functional evaluations.

Angiomas of the cerebellopontine angle.

Angiomas situated within the pontocerebellar cistern lie superficially on the ventrolateral aspect of the brain stem. Occasionally, minor extensions penetrate into the adjacent nervous structures. Five patients bearing such lesions were operated upon, using a microsurgical technique. Radical excision was performed in all cases. Within 2 to 12 months the patients had returned to their previous occupations, being fully able to work or attend school. There is increasing evidence for the effectiveness of surgical treatment of angiomas of the ventrolateral aspect of the brain stem and the cerebellopontine angle. The illness usually presents with hemorrhages of varying severity, ranging from mild to devastating. Impairment of consciousness, contralateral hemiparesis and ipsilateral cranial nerve palsies are the most frequent neurological signs after bleeding. The outcome following excision is primarily related to the preoperative condition. No additional deficits or only minor further impairment can be expected from surgical interference. Exploration is advisable whenever the malformation appears to lie on the surface rather than within the brain stem.

Low sensitivity of computed tomography in the staging of gastric lymphomas of mucosa-associated lymphoid tissue: impact on prospective trials and ordinary clinical practice.

The natural history and management of gastric lymphomas of mucosa-associated lymphoid tissue (MALTomas) are not completely understood. Most stage I cases are now entered into prospective trials to confirm the excellent results obtained with conservative treatment, whereas current therapeutic policies are based on accumulated experience. The limits of staging work-ups may have a significant impact on prospective trials and ordinary clinical practice. The authors explore the sensitivity of computed tomography scanning in detecting perigastric adenopathy in 20 patients with gastric MALToma treated by gastrectomy. Clinical staging identified 17 patients as having stage I MALTomas and three patients as having stage II1 MALTomas. Histopathologic staging showed that 8 of 17 patients formerly diagnosed with stage I MALToma had perigastric nodal involvement, whereas the three patients with clinical stage II1 were confirmed as such. Computed tomography scanning has low sensitivity in detecting perigastric lymphadenopathy in gastric MALTomas. This leads to understaging, with a significant impact on therapeutic decision, and distorts newly acquired knowledge about the disease's natural history and management, introducing a bias in prospective clinical trials. Endoscopic ultrasonography should be tested as a staging procedure both in prospective trials and in ordinary clinical practice.

Long-term results of surgery for hydatid disease of the spine.

Long-term results of the surgical treatment of 18 patients with hydatid disease of the spine are reported. Recurrent signs of cord compression, requiring reoperation, occurred in half of the cases. The infestation can be controlled occasionally for over decades after the first operation, allowing the patients to have an acceptable life with their disease.

Surgical treatment of arteriovenous malformations of the posterior fossa.

Nine cases of arteriovenous malformations of the posterior fossa were operated upon, using microsurgical techniques. The excision was radical in eight patients. Seven of them, as well as the sole patient who had a partial removal of the malformation, returned to their previous occupations without neurological signs. In one case the preoperative deficit was unchanged. Some lesions that appear to penetrate the brain stem actually lie on its surface and can be dissected through an extrapial plane of cleavage. Extension of the malformation into the cerebellar peduncles requires dissection of the tangle and opening of the IVth ventricle.

Redundant nerve roots of the cauda equina.

Four cases of redundant nerve roots of the cauda equina are reported, and the pertinent literature is reviewed. This disorder mainly affects males. The clinical history ranges from months to decades. The illness often starts with low back pain or sciatica, or both. Motor and sensory impairment of the legs dominate the further course of the disease. Serpentine filling defects in the column of contrast are a characteristic (but inconstant) feature on myelograms. Abatement of signs and symptoms occurs following adequate decompression of the redundant roots.

Subchoroidal approach to the third ventricle. Microsurgical anatomy.

The third ventricle can be approached by performing a few surgical maneuvers: (a) dividing the ependyma on the inferolateral aspect of the choroid plexus of the lateral ventricle; (b) separating leptomeningeal bundles within the tela chorioidea, and (c) dividing the roof of the third ventricle along the stria medullaris. Main landmarks are the thalamostriate vein and the direct lateral vein. Small subependymal veins or neural branches of the posterior medical choroidal artery, or both, occasionally cross the access route. The third ventricle is seen through both the opening in the roof and the foramen of Monro. A wider exposure can be obtained by cutting the terminal segment of the thalamostriate vein.

Cerebral blood flow in minor cerebral contusion.

Seventeen patients with minor cerebral contusion were selected from a series of patients with head injuries of various severity, who had undergone repeat evaluations of the regional cerebral blood flow. The mean global flow (expressed as mean global initial slope index) on early examination was found to be significantly lower, compared with that recorded in healthy volunteers. A tendency towards the recovery of higher flow values was apparent in repeat evaluations that were performed several weeks after the injury. Interhemispheric asymmetries of flow were a common occurrence, with lower perfusion and reduced attenuation values on computed tomography scans being, however, in good agreement only in approximately half of the cases.

Precancerous gastric lesions and Helicobacter pylori.

BACKGROUND/AIMS: Previous publications in the literature have reported an association between incidence of Helicobacter pylori (HP) infection and gastric cancer. The role of HP in precancerous gastric lesions or in their evolution towards neoplastic disease is not so clear. MATERIALS AND METHODS: We studied 174 patients with atrophic gastritis. RESULTS: Intestinal metaplasia (IM) was detected in 165 subjects of the patients and different grades of dysplasia were observed in 32 subjects. HP was found in 75 (52.8%) of 165 subjects with IM, in 7 (34.7%) with both IM and dysplasia and in 3 with dysplasia alone. There was no significant difference in the prevalence of HP infection in the three IM types, type I (47.7%), type II (54.7%) and type III (48.4%) (p = n.s.). In contrast, the prevalence of HP positive patients was significantly lower in dysplasia (10/32 vs 22/32; p < 0.005). At the same time, the frequency of HP was significantly lower for subjects with IM and dysplasia than for those with type I IM (41/83 vs 7/32; p = 0.01). CONCLUSIONS: At present, in our experience, HP infection is rather infrequent in type III IM and it is found less often in cases of dysplasia. We have taken these results to suggest that the modified gastric mucosa becomes inhospitable for HP and, consequently, that other factor are probably responsible for promoting gastric carcinogenesis.

Long-term survival of a patient with a giant-cell tumor of the sphenoid body: a case report.

Giant-cell tumors (osteoclastomas) of the sphenoid body are rare, histologically benign lesions that can grow in different directions within the bony structures of the skull base. To date, the precise role of the different surgical strategies (radical versus partial resection; biopsy) and of supplementary postoperative radiotherapy remains undefined due to the short follow-up of the majority of the reported cases. We present a patient who is alive without symptoms or signs of recurrence 44 years after a macroscopically radical excision of the neoplasm followed by radiotherapy.

[Anatomo-surgical classification and surgical treatment of arteriovenous malformations in the posterior cranial fossa]. / Classificazione anatomo-chirurgica e trattamento operatorio delle malformazioni artero-venose della fossa cranica posteriore.

An increasing number of arteriovenous malformations of the posterior cranial fossa can be radically extirpated with good functional results, by using microsurgical techniques. Extensive involvement of the brain stem represents the limit for effective surgery. An anatomo-surgical classification of these lesions is presented, and the surgical indications are discussed.

[Severe acute pancreatitis. Clinical and therapeutic contribution of diagnostic imaging]. / Pancreatitis aguda severa. Aporte clínico y terapéutico del diagnóstico por imágenes.

Ultrasonography and dynamic tomography are used in the study of acute pancreatitis, thus helping to interpret the diverse anatomophysiopathologic variables. We present 41 patients studied by ultrasonography, on admission and twenty-four hours later or more. After seventy-two hours, a dynamic tomography was performed. We did a clinicotomographic correlation assessing necrosis, and multiple Ranson criteria, being complemented with the anatomopathologic study of specimens both in the complications and in the elective biliary surgery. There were three puncture aspirates for bacteriology. Eight (19.5%) patients developed local complications and four (9.75%) presented organ failure. Ultrasonography showed biliopancreatic hypertension in 45% of cases of biliary pancreatitis and was reversible in nature. Dynamic tomography was important in defining morphology and pancreatic necrotic involvement. There were two patients with intrapancreatic necrosis, six with intra and extrapancreatic necrosis and eleven patients who presents a dissemination of the process into the extrapancreatic tissues. The prevalence of glandular necrosis was 24%. Both, ultrasonography and dynamic tomography allowed to the identify a spectrum of lesions representative of cavitated extrapancreatic necrosis and enzymatic pericholecystitis. Likewise, they contributed to define medical treatment as well as indications, opportunities and approaches in the surgical and/or percutaneous treatment of septic complications.