Breeding effects on durum wheat traits detected using GWAS and haplotype block analysis.

Introduction: The recent boosting of genomic data in durum wheat (Triticum turgidum subsp. durum) offers the opportunity to better understand the effects of breeding on the genetic structures that regulate the expression of traits of agronomic interest. Furthermore, the identification of DNA markers useful for marker-assisted selection could also improve the reliability of technical protocols used for variety protection and registration. Methods: Within this motivation context, 123 durum wheat accessions, classified into three groups: landraces (LR), ancient (OC) and modern cultivars (MC), were evaluated in two locations, for 34 agronomic traits, including UPOV descriptors, to assess the impact of changes that occurred during modern breeding. Results: The association mapping analysis, performed with 4,241 SNP markers and six multi-locus-GWAS models, revealed 28 reliable Quantitative Trait Nucleotides (QTNs) related to plant morphology and kernel-related traits. Some important genes controlling flowering time and plant height were in linkage disequilibrium (LD) decay with QTNs identified in this study. A strong association for yellow berry was found on chromosome 6A (Q.Yb-6A) in a region containing the nadh-ubiquinone oxidoreductase subunit, a gene involved in starch metabolism. The Q.Kcp-2A harbored the PPO locus, with the associated marker (Ku_c13700_1196) in LD decay with Ppo-A1 and Ppo-A2. Interestingly, the Q.FGSGls-2B.1, identified by RAC875_c34512_685 for flag leaf glaucosity, mapped less than 1 Mb from the Epistatic inhibitors of glaucousness (Iw1), thus representing a good candidate for supporting the morphological DUS traits also with molecular markers. LD haplotype block approach revealed a higher diversity, richness and length of haploblocks in MC than OC and LR (580 in LR, 585 in OC and 612 in MC), suggesting a possible effect exerted by breeding programs on genomic regions associated with the agronomic traits. Discussion: Our findings pave new ways to support the phenotypic characterization necessary for variety registration by using a panel of cost-effectiveness SNP markers associated also to the UPOV descriptors. Moreover, the panel of associated SNPs might represent a reservoir of favourable alleles to use in durum wheat breeding and genetics.

Genetic Characterization of Apulian Olive Germplasm as Potential Source in New Breeding Programs.

The olive is a fruit tree species with a century-old history of cultivation in theMediterranean basin. In Apulia (Southern Italy), the olive is of main social, cultural and economicimportance, and represents a hallmark of the rural landscape. However, olive cultivation in thisregion is threatened by the recent spread of the olive quick decline syndrome (OQDS) disease, thusthere is an urgent need to explore biodiversity and search for genetic sources of resistance. Herein,a genetic variation in Apulian olive germplasm was explored, as a first step to identify genotypeswith enhanced bio-agronomic traits, including resistance to OQDS. A preselected set of nuclearmicrosatellite markers allowed the acquisition of genotypic profiles, and to define geneticrelationships between Apulian germplasm and widespread cultivars. The analysis highlighted thebroad genetic variation in Apulian accessions and the presence of different unique genetic profiles.The results of this study lay a foundation for the organization of new breeding programs for olivegenetic improvement.

A comparison of intraoperative haemostatic techniques during tonsillectomy: Suture vs electrocautery-A study to assess postoperative pain scores and duration to resumption of normal diet.

OBJECTIVES: To assess postoperative pain and pattern of recovery to normal diet in children who underwent tonsillectomy. METHODS: Cold steel tonsillectomy (or adenotonsillectomy) was performed in 61 children. Haemostasis was attained with sutures in Group 1 (n = 30, 8 tonsillectomy and 22 adenotonsillectomy), and electrocautery in Group 2 (n = 31, 6 tonsillectomy and 25 adenotonsillectomy). Information obtained included postoperative pain scores and the number of postoperative days taken to resume normal diet. The pain score was evaluated with the Wong-Baker FACES® Pain Rating Scale (WBFS). RESULTS: Pain values in Group 1 (haemostasis with sutures) were significantly lower than those in Group 2 (haemostasis with cauterisation) from the 6th hour to the 7th postoperative day (P < .05). For both liquid and solid food, Group 1 returned to normal diet earlier, compared to Group 2 (P < .05). When comparing patients undergoing tonsillectomy vs adenotonsillectomy, resumption of normal diet was achieved later in the adenotonsillectomy patients (P < .05). In terms of postoperative bleeding, there were 2 significant events in Group 2 (electrocautery group), occurring on the 1st (severe) and 10th day (slight) in 2 children (6.5%). There were no postoperative bleeding events in Group 1. CONCLUSION: Our results showed that suture haemostatis causes less pain and faster resumption of normal diet compared to electrocautery. In view of this, we recommend the use of sutures for achieving intraoperative haemostasis in paediatric patients.

Impact of resection margin status on oncological outcomes after CO2 laser cordectomy.

The management of positive resection margins in micro-endoscopic glottic laser surgery remains a controversial and critical point. This study aims to assess the impact of margin status after transoral laser surgery on local control, survival and organ preservation rates; the decision-making process and treatment options in cases with positive margins are also discussed. We retrospectively reviewed the clinical and histological records of 308 consecutive patients with primary early glottic carcinoma (T1a, T1b, selected T2) and treated with endoscopic laser cordectomy. Recurrence rates and survival related to margin status were analysed using the Kaplan-Meier method. Local relapses and disease-free-survival rates were significantly related to excision margin status (p < 0.001). In the T1a category (n = 228) no significant differences were observed in disease-free-survival (p = 0.889) and overall survival (p = 0.426) between patients submitted to further treatment (revision endoscopic surgery or radiotherapy) for positive excision margins and patients who were left untreated. In 20 of 24 (83%) patients with positive margins that were surgically re-excised, no residual carcinoma was detected. Margin status (mainly multifocal and deep positive margins) at first surgery was significantly related to the final organ preservation rate (p < 0.001). Margin status during laser cordectomy in early glottic cancer has a prognostic impact on local control of disease without compromising survival. Patients with multifocal and deep positive borders should be surgically retreated and strictly monitored to increase the organ preservation rates. Careful preparation and mapping of the surgical specimen enhances the accuracy of pathological examination by reducing the risk of overestimate positive margins.

Genetic variation of a global germplasm collection of chickpea (Cicer arietinum L.) including Italian accessions at risk of genetic erosion.

Chickpea (Cicer arietinum L.) is one of the most important legumes worldwide. We addressed this study to the genetic characterization of a germplasm collection from main chickpea growing countries. Several Italian traditional landraces at risk of genetic erosion were included in the analysis. Twenty-two simple sequence repeat (SSR) markers, widely used to explore genetic variation in plants, were selected and yielded 218 different alleles. Structure analysis and hierarchical clustering indicated that a model with three distinct subpopulations best fits the data. The composition of two subpopulations, named K1 and K2, broadly reflects the commercial classification of chickpea in the two types desi and kabuli, respectively. The third subpopulation (K3) is composed by both desi and kabuli genotypes. Italian accessions group both in K2 and K3. Interestingly, this study highlights genetic distance between desi genotypes cultivated in Asia and Ethiopia, which respectively represent the chickpea primary and the secondary centres of diversity. Moreover, European desi are closer to the Ethiopian gene pool. Overall, this study will be of importance for chickpea conservation genetics and breeding, which is limited by the poor characterization of germplasm collection.

Genome-wide SNP discovery and population structure analysis in pepper (Capsicum annuum) using genotyping by sequencing.

BACKGROUND: Knowledge on population structure and genetic diversity in vegetable crops is essential for association mapping studies and genomic selection. Genotyping by sequencing (GBS) represents an innovative method for large scale SNP detection and genotyping of genetic resources. Herein we used the GBS approach for the genome-wide identification of SNPs in a collection of Capsicum spp. accessions and for the assessment of the level of genetic diversity in a subset of 222 cultivated pepper (Capsicum annum) genotypes. RESULTS: GBS analysis generated a total of 7,568,894 master tags, of which 43.4% uniquely aligned to the reference genome CM334. A total of 108,591 SNP markers were identified, of which 105,184 were in C. annuum accessions. In order to explore the genetic diversity of C. annuum and to select a minimal core set representing most of the total genetic variation with minimum redundancy, a subset of 222 C. annuum accessions were analysed using 32,950 high quality SNPs. Based on Bayesian and Hierarchical clustering it was possible to divide the collection into three clusters. Cluster I had the majority of varieties and landraces mainly from Southern and Northern Italy, and from Eastern Europe, whereas clusters II and III comprised accessions of different geographical origins. Considering the genome-wide genetic variation among the accessions included in cluster I, a second round of Bayesian (K = 3) and Hierarchical (K = 2) clustering was performed. These analysis showed that genotypes were grouped not only based on geographical origin, but also on fruit-related features. CONCLUSIONS: GBS data has proven useful to assess the genetic diversity in a collection of C. annuum accessions. The high number of SNP markers, uniformly distributed on the 12 chromosomes, allowed the accessions to be distinguished according to geographical origin and fruit-related features. SNP markers and information on population structure developed in this study will undoubtedly support genome-wide association mapping studies and marker-assisted selection programs.

Total thyroidectomy in Basedow-Graves' disease treatment: our experience.

In the present study the authors, after a short historical description of the Basedow-Graves' disease, describe their case-study gathered over the last five years. They mention the most widely accepted hypothesis regarding disease's etiology, strongly linked to autoimmune disorders, and the role that some viral agents (Coksackie B and HTLV-II) may have in initiating autoantibody production and T cells activation in genetically predisposed individuals. Basic and clinical aspects of the diagnosis and disease treatment, highlighting the use of thyroidectomy, are addressed. They conclude that total thyroidectomy represents today the treatment of choice, which, after appropriate preparation to reach the euthyroidism condition, can ensure a successful cure.

Parathyroid carcinoma: case report.

The authors present a case of parathyroid carcinoma in a patient with primary hyperparathyroidism. Following a literature review, the clinical and diagnostic profile, treatment and prognosis of this rare disease are discussed.

Toxic multinodular goitre. Personal case histories and literature review.

The authors reviewed their own case histories of surgical thyreopathy over the last 20 years in order to establish how many multinodular goitre (MNG) patients developed hyperthyroidism during the follow-up period. In agreement with the findings reported in literature, the authors observed that 220 out of 1117 patients with MNG developed hyperthyroidism caused by the appearance of hyperfunctioning nodules after 6-18 years from the initial diagnosis of MNG.

Pancreatic pseudocyst: case report and short literature review.

We report a case of pancreatic pseudocyst secondary to acute necrotizing pancreatitis treated with open cystogastrostomy. Following a literature review, we stress the enormous benefits offered by modern diagnostic techniques, and especially imaging techniques, for the diagnosis and monitoring of this disease. Treatment should be delayed for at least six weeks, following which the drainage by open surgery offers the best results and lowest morbidity and mortality, followed by laparoscopy and endoscopy, indicated in particular cases and in patients where open surgery is contraindicated.

Liver trauma. Diagnosis and treatment.

The authors summarize the essential steps in liver surgery. Modern imaging techniques are of great help in establishing a circumstantiated diagnosis of post-traumatic lesions of the intra-abdominal parenchymatous organs, and especially the liver. Such diagnosis must always be based on the AAST (American Association for the Surgery of Trauma) classification, essential for a correct approach. Each therapeutic choice must be based on a careful clinical evaluation to establish whether emergency exploration of the abdomen or simple patient monitoring is indicated. Organ injuries and consequent hemoperitoneum must be found and quantified. In any case, diagnosis and treatment must only begin once all measures have been taken to ensure the maintenance of vital functions and the normalization of the main blood chemistry parameters.

Mucocele of the appendix. Two case reports.

The authors present two cases of mucocele of the appendix and discuss them in relation to the literature and the clinical features of this disease. They clarify the definition of mucocele as an intraluminal accumulation of mucus in the appendix, and concentrate on the observable pathological processes, agreeing on the higher frequency of mucinous cystadenoma and the possibility that mucocele can develop into peritoneal pseudomyxoma or degenerate into cystadenocarcinoma. They also note that most diagnoses are made intra-operatively during appendectomy, and that, in cases suspected preoperatively, thorough investigation with imaging techniques is very important in order to plan the best treatment.

[Acute typhlitis associated with taxane-based chemotherapy]. / Tiflite acuta dopo trattamento chemioterapico con taxani.

A rare case of acute typhlitis is reported. The patient had undergone chemotherapy for a breast cancer. Clinical and diagnostic tools as well as general and topical care are examined.

[Recanalizing entero-rectal fistula post-colostomy for inoperable rectal cancer]. / Fistola entero-rettale ricanalizzante dopo colostomia sinistra definitiva per tumore del retto inoperabile.

The Authors report a case of a spontaneous intestinal 'recanalization' after 1 year since the palliative surgery (definitive colostomy) for rectal cancer in a 79 years-old patient.

Chondrosarcoma of the larynx: a case report.

Chondrosarcomas of the larynx are rare cancers and are more frequently located at cricoid cartilage level. They are characterised by a low tendency to metastatic diffusion (low grade). The treatment of choice is surgery, which may be endoscopic or "open partial surgery", if extension of the cancer is limited. Prognosis is generally good. In this report, a case of low malignancy chondrosarcoma of the larynx is presented, which was treated surgically with a glottic-hypoglottic laryngectomy according to Serafini-Bartual. Chondrosarcoma of the larynx shows a slow and painless growth, the first symptom is often an ingravescent dysphonia. Laryngoscopy reveals tumefaction of the larynx, covered by intact mucosa. Computerized tomography imaging with contrast and magnetic resonance imaging defines not only coarse calcifications, pathognomonic of chondromatous neo-formations but also the relationship of the neoformation with the surrounding tissues. However, histology remains the gold standard for diagnostic purposes. Treatment is essentially surgical; it must allow eradication of the cancer between specific safety margins and, it must, at the same time, be functional, if the lesion does not extend beyond half of the cricoid circle and if histological grade is low.

Amyand's hernia: case report and review of the literature.

The authors report a case of gangrenous acute appendicitis in the sac of an inguinal hernia (Amyand's hernia). After a review of the literature, they emphasise the extreme rarity of the case reported, they underline how the clinical picture is highly similar to that of a strangulated inguinal hernia. They affirm that appendicectomy and hernioplasty may be performed at the same time, since the repair of the hernia should be performed without prosthesis implantation due to the contamination of the operating field.

[Surgery of inguinal hernia in the elderly]. / La chirurgia dell'ernia inguinale nel paziente geriatrico.

The authors report their 14 years experiences with inguinal hernia repair in elderly. The result were compared with young (< 75 years old), and confirmed that there were no significant differences between the 2 groups. The study confirmed the safety and effectiveness of the "tension-free" technique under local anaesthesia, which is proposed as the treatment of choice in elderly.

[Indications for preventive tracheostomy in the surgical treatment of non-neoplastic thyroid disease]. / Indicazioni alla tracheostomia precauzionale nella chirurgia delle tireopatie non neoplastiche.

In thyroid surgery, an emergency tracheostomy is mandatory, as is well known, in acute pre- and postoperative asphyxia due to obstruction of the upper airways, especially in cases of malignant tumours. In particular conditions, in the presence of benign thyroid disease and when there is no reduction in the laryngo-tracheal lumen, tracheostomy has an important precautionary function following total thyroidectomy. The authors describe their experience with 6 patients treated by precautionary tracheostomy after total thyroidectomy for benign thyroid disease, analysing the indications and the advantages of this method.

Vascular complications of native arteriovenous fistulas for hemodialysis: role of microsurgery.

This article describes the treatment of 56 early and late vascular complications of native arteriovenous fistula (AVF) in patients with end-stage renal disease, between January 1987 and January 1999. Twenty-six were arteriovenous aneurysms and 2 pseudoaneurysms; 25 were thromboses. We also observed two cases of periarteritis associated with systemic lupus erythematosus (SLE) and one complex iatrogenic lesion caused by an attempt at percutaneous restoration of potency. We applied microsurgical principles, instruments, and techniques. It was possible to restore a vascular access at the original site, using the same vessels in 45 cases (80.4%). In 10.7% of cases, we were able to rescue the original AVF by microsurgical revision. A new vascular access had to be created proximally in the same limb or in the contralateral forearm in 11 cases of aneurysms (19.6% of the total, 42% of the aneurysms). After a minimum follow-up of 8 months, a total of four patients had to be reoperated for further complications (7.2%). Our data support the idea that microsurgical treatment of vascular complications of native AVF is highly successful compared with results obtained by conventional surgery and, in a defined subgroup of patients, permits salvage of the fistula.

[Internal abdominal hernia. Unusual cause of intestinal occlusion]. / Ernia addominale interna. Una insolita causa di occlusione intestinale.

Internal abdominal hernias are an unusual cause of intestinal occlusion. They are responsible for 2% of all the intestinal obstructions. Various types of hernia have been described. The diagnosis is difficult, but should be suspected in patients suffering from intestinal obstruction who have undergone earlier laparotomy. Diagnosis is even more difficult in cases of congenital internal hernia. The authors report a case of left paraduodenal hernia (congenital), and a case of transmesenteric hernia (acquired). Both patients complained of a short history of abdominal pain and characteristic symptoms of acute abdomen (nausea, vomit, cramps and obstipation). Emergency surgery using laparotomy enabled diagnosis and treatment. The authors underline the difficulty of diagnosing these hernias and emphasise the diagnostic and therapeutic importance of emergency surgery.