A comparative whole genome sequencing analysis identified a candidate locus for lack of operculum in cultivated gilthead seabream (Sparus aurata).

The gilthead seabream (Sparus aurata, Sparidae family) is commonly used for aquaculture. Despite its great economic value, several problems in its cultivation remain. One of the major concerns is the high frequency of morphological abnormalities occurring during the early developmental stages. Partial and/or total lack of operculum is the most frequent anomaly affecting the fish cranial region. The existence of genetic factors that can at least partially determine this defect has been hypothesized. In this work, two DNA pools of highly related fry, one composed of normal-looking (control) fish and the other lacking an operculum (case), were constructed and whole-genome resequencing data produced from the two were compared. The analysis revealed a 1 Mb region on chromosome 2 with higher heterozygosity in the lack of operculum DNA pool than in the control DNA pool, consistent with the enrichment, in the first DNA pool, of one or more haplotypes causing or predisposing to the defect together with other normal haplotypes. A window-based FST analysis between the two DNA pools indicated that the same region had the highest divergence score. This region contained 2921 SNVs, 10 of which, with predicted high impacts (three splice donor and seven stop-gained variants), were detected in novel genes that are homologous to calcium-sensing receptor-like genes, probably involved in bone development. Other studies are needed to clarify the genetic mechanisms involved in predisposing fry to this deformity and then to identify associated markers that could be used in breeding programs to reduce the frequency of this defect in the broodstock.

Identification of a major locus determining a pigmentation defect in cultivated gilthead seabream (Sparus aurata).

The gilthead seabream (Sparus aurata) is an important cultivated species in the Mediterranean area. A major problem for the gilthead seabream aquaculture sector derives from the high frequency of phenotypic abnormalities, including discolorations. In this study, we applied a whole-genome resequencing approach to identify a genomic region affecting a pigmentation defect that occurred in a cultivated S. aurata population. Two equimolar DNA pools were constructed using DNA extracted from 30 normally coloured and 21 non-pigmented fish collected among the offspring of the same broodstock nucleus. Whole-genome resequencing reads from the two DNA pools were aligned to the S. aurata draft genome and variant calling was performed. A whole-genome heterozygosity scan from single pool sequencing data highlighted a peak of reduced heterozygosity of approximately 5 Mbp on chromosome 6 in the non-pigmented pool that was not present in the normally coloured pool. The comparison of the non-pigmented with the normally coloured fish using a whole-genome FST analysis detected three main regions within the coordinates previously detected with the heterozygosity analysis. The results support the presence of a major locus affecting this discoloration defect in this fish population. The results of this study have practical applications, including the possibility of eliminating this defect from the breeding stock, with direct economic advantages derived from the reduction of discarded fry. Other studies are needed to identify the candidate gene and the causative mutation, which could add information to understand the complex biology of fish pigmentation.

Our Timing to Remove Peritoneal Catheter Dialysis After Kidney Transplant.

BACKGROUND: Patients on peritoneal dialysis treatment represent 15% of the global dialysis population. The major complication of peritoneal dialysis is catheter and peritoneal infection. Peritoneal dialysis patients who receive kidney transplants are at increased risk of infection because of immunosuppressive therapy. AIM: The purpose of this study is to show our ideal timing to remove peritoneal catheter after kidney transplant, which gives adequate security on renal function recovery and reduction of septic risk. METHOD OF STUDY: We analyzed the outcomes of 65 patients on peritoneal dialysis who underwent kidney transplant between 2000 and 2016. RESULTS: In 61 cases there was an immediate graft functional recovery. In 4 cases there was a delayed graft function (DGF), and we performed a hemodialysis with temporary placement of a venous catheter. In all patients we removed peritoneal dialysis catheter 30 to 45 days after transplant. There has been 1 case of catheter infection, which was treated with antibiotic therapy. DISCUSSION: Our average time to remove the peritoneal dialysis catheter was shorter than times in previous studies, between the 30th and 45th postoperative day. In the 4 cases in which there has been a DGF, we performed hemodialysis treatment to avoid, in the immediate postoperative period, direct insults to the peritoneum by local dialysis procedures. CONCLUSION: Our experience show that the 30th to 45th postoperative day is a good time frame, better yet a good watershed between the safe removal of peritoneal catheter when patients have a stabilized renal function and the possibility of leaving it in situ, to resume peritoneal dialysis in case of persistent DGF.

Prevalence of Sleep Bruxism in IBD Patients and Its Correlation to Other Dental Disorders and Quality of Life.

BACKGROUND: Patients with inflammatory bowel diseases could experience mouth and teeth disorders and alterations in psychological mood. Vice versa, the psychological status may influence the presence of oral diseases. AIM: To evaluate in inflammatory bowel disease patients the prevalence of sleep bruxism and its correlation with the presence of oral diseases, quality of sleep, and psychological disturbances. METHODS: Patients were consecutively recruited in our clinic and examined for temporomandibular disorders, dental enamel disorders, sleep bruxism, and recurrent aphthous stomatitis by two dentists. Patients also underwent Pittsburgh Sleep Quality Index and Beck Depression Inventory Scale questionnaires. RESULTS: 47 patients and 46 controls were included. Sleep bruxism and enamel wear disorders were more frequent in Crohn's disease patients when compared with ulcerative colitis patients and controls (p = 0.03 and p = 0.02, resp.). Among groups, no differences were noted for enamel hypoplasia, temporomandibular disorders, recurrent aphthous stomatitis, depression, and quality of sleep. We found a positive correlation between bruxism and temporomandibular disorders (Spearman 0.6, p < 0.001) and between bruxism and pathological sleep (Pittsburgh Sleep Quality Index > 5) (Spearman 0.3, p < 0.005). CONCLUSION: Bruxism and enamel wear disorders should be routinely searched in Crohn's disease patients. Moreover, the attention of healthcare givers to sleep disturbances should be addressed to all inflammatory bowel disease patients.

Dental care and dentistry practice in the Medieval Medical School of Salerno.

Even though dental care is sometimes erroneously considered a modern practice, written records from major ancient civilisation all around the world date back to several millennia BC. In particular, in the Middle Ages, among the tenth and thirteenth centuries, the illustrious Medical School of Salerno in Italy, the most important institution in the Western world for the diffusion of medical knowledge, disseminated through its precepts the importance of oral hygiene and practiced specific dental therapies for tooth decay, gingivitis, paradentosis and halitosis among others. Interestingly, several of the officinal plants and natural ingredients proposed for oral care by the school's most famous physicians recipes, notably those of the legendary Trotula De Ruggiero, considered the first female physician in history, are still in vogue in the twenty-first century.

Deaths with acute cerebral lesions in ICU: does the number of potential organ donors depend on predictable factors?

BACKGROUND: As the potentiality of deceased organ donation mostly depends on the number of brain deaths (BDs), the aim of this study is to quantify rates and probabilities of BD declaration in Italy. METHODS: Deaths with acute cerebral lesion (ACLDs) in the Italian ICUs have been prospectively collected. A total of 27,490 ACDLs occurred in 5 years. Age, gender, etiology, timing of death and ICU Region have been utilized for multivariate analysis. RESULTS: The global ratio of BD declarations to ACLDs was 39.9%. The rates of ACLDs, BD declarations and actual donors were 93.5, 37.3 and 19.7 pmp respectively. Wide variability resulted among Regions, with 148.2 ACLDs, 77.8 BD declarations and 42 donors pmp as benchmark. The probability of being BD declared was significantly higher in stroke compared with head injury (OR 1.6, P<0.001) and in females (OR 1.5, P<0.001), with half the Regions missing around 50% of BD declarations compared with the benchmark, particularly in elderly patients. CONCLUSION: Predictable factors associated with BD declaration can be identified in ACLD management. Positive factors leading to the identification of potential organ donors, i.e., the capacity of declaring BD in all the patients fulfilling BD criteria irrespective of age and etiology, could be captured in the best performing regions and reproduced throughout the Country. The implementation of simple indicators based on prospective ACLD monitoring, i.e. the declared BDs to ACLDs in ICU ratio, may be helpful in achieving efficiency targets and reliable comparisons of outcomes in the identification of BD potential organ donors.

Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population.

Idiopathic dilated cardiomyopathy (IDC) is a structural heart disease with strong genetic background. The different single nucleotide polymorphisms (SNPs) that constitute mitochondrial haplogroups could play an important role in IDC progression. The aim of this study was to test frequencies of mitochondrial haplogroups in healthy controls (n=422) and IDC patients (n=304) of a Caucasian Spanish population. To achieve this, ten major European haplogroups were identified. Frequencies and Odds Ratios for the association between IDC and haplogroups were calculated in both groups. We found that compared to healthy controls, the prevalence of haplogroup H was significantly higher in IDC patients (40.0% vs 50.7%, p-value=0.040).

In situ elongation patch in right kidney transplantation.

BACKGROUND: A short right renal vein complicates transplantation causing traction and difficulties during anastomosis. When we perform a kidney transplantation from a cadaveric donor, this problem may be resolved by using the vena cava to create a venous duct. This elongation technique is proposed to be performed during bench surgery. We propose a small change in the technique: execution of an "elongation patch" during harvesting and under cold perfusion. MATERIALS AND METHODS: From January 2004 to June 2006, we performed 12 in situ (during the harvesting procedure) vena cava elongation patches. In these cases, the right renal vein was too short. The elongation patch was used in only 8 transplantations. In the other 4 cases we sacrificed the patch to perform a direct venous anastomosis due to favorable recipient anatomical characteristics. RESULTS: The 8 transplantations performed with the elongation patch did not show vascular complications and the venous anastomosis was easy to perform. CONCLUSIONS: The "extension patch" was not associated with a greater incidence of vascular complications. Using the elongation patch during the harvest showed some advantages: performed during cold perfusion with a reduction in bench ischemia; the anatomical relationships are preserved so we can perform a calibrated suture; the perfusion of the organ allows us to observe the integrity of the anastomosis. This technique did not significantly increase the harvesting time.

Transplantation and young surgeons in Italy.

The relation between young surgeons and transplantation has always been a "love and hate" one. Until a few years ago this branch of surgery was seen as pioneering, with extreme and and extensive training, and was reserved to few elected members. Nowadays things are different. In this article we try to understand the true reasons that young Italian surgeons avoid transplantation surgery.

Lineage analysis of the olfactory epithelium using a replication-incompetent retrovirus.

We have analysed the lineage of olfactory receptor neurons using a replication-incompetent retrovirus injected beneath the olfactory epithelium of young rats. There are two major types of clusters of infected cells seen at 5--40 days after infection: (i) horizontal basal cells (HBCs); (ii) variable numbers of globose basal cells (GBCs), and immature and mature sensory neurons. Olfactory nerve lesion increased the frequency of the globose/sensory neuron clusters, as well as the number of cells/cluster, but did not change the number of HBC clusters or cells/cluster. No clusters contained sustentacular cells. These data indicate that, at least in young rats: (i) HBCs are not precursors of olfactory neurons; (ii) there is a lineage path from GBCs to mature neurons; and (iii) sustentacular cells arise from a separate lineage.

Globose basal cells are neuronal progenitors in the olfactory epithelium: a lineage analysis using a replication-incompetent retrovirus.

We have used a replication-incompetent retrovirus to analyze the lineage of olfactory receptor neurons in young rats. At 5-40 days after infection, clusters of infected cells comprised two major types: one consisted of 1-2 horizontal basal cells, and a second consisted of variable numbers of globose basal cells and immature and mature sensory neurons. Olfactory nerve lesion (which enhances neuronal turnover) increased the frequency of the globose-sensory neuron clusters as well as the number of cells in such clusters. No clusters contained both horizontal and globose basal cells, and none contained sustentacular cells. These data suggest, at least in young rats, that horizontal basal cells are not precursors of olfactory neurons, that there is a lineage path from globose cells to mature neurons, and that sustentacular cells may arise from a separate lineage.