A comparison of genetic and genomic breeding values in Saanen and Alpine goats.

Nowadays, several countries are developing or adopting genomic selection in the dairy goat sector. The most used method to estimate breeding values is Single-Step Genomic Best Linear Unbiased Prediction (ssGBLUP) which offers several advantages in terms of computational process and accuracy of the estimated breeding values (EBVs). Saanen and Alpine are the predominant dairy goat breeds in Italy, and both have similar breeding programs where EBVs for productive traits are currently calculated using BLUP. This work describes the implementation of genomic selection for these two breeds in Italy, aligning with the selection practices already carried out in the international landscape. The available dataset included 3 611 genotyped animals, 11 470 lactation records, five traits (milk, protein and fat yields, and fat and protein percentages), and three-generation pedigrees. EBVs were estimated using BLUP, GBLUP, and ssGBLUP both with single and multiple trait approaches. The methods were compared in terms of correlation between EBVs and genetic trends. Results were also validated with the linear regression method excluding part of the phenotypic data. In both breeds, EBVs and GEBVs were strongly correlated and the trend of each trait was similar comparing the three methods. The average increase in accuracy across traits and methods amounted to +13 and +10% from BLUP to ssGBLUP for Alpine and Saanen breeds, respectively. Results indicated higher prediction accuracy and correlation for GBLUP and ssGBLUP compared to BLUP, implying that the use of genotypes increases the accuracy of EBVs, particularly in the absence of phenotypic data. Therefore, ssGBLUP is likely to be the most effective method to enhance genetic gain in Italian Saanen and Alpine goats.

The species and physiological diversity of Bifidobacterium genus in Gallus gallus domesticus are influenced by feeding model and niche adaptations.

Species diversity of the Bifidobacterium genus was scarcely explored in different rearing systems of poultry. The aim of the study was to isolate intestinal species and compare their physiological and traits for adaptation to the avian intestinal niche. Fourteen strains isolated from chickens of intensive rearing farms and free-range hens, were identified by 16S rDNA sequencing, rep-PCR fingerprinting, and carbohydrates fermentation. Strains belonged to species Bifidobacterium pseudolongum subsp. pseudolongum and subsp. globosum, B. pullorum, B. animalis subsp lactis, B. boum, B. thermacidophilum subsp. thermacidophilum and B. thermophilum. One strain of B. animalis and B. pullorum, and two of B. pseudolongum subsp. pseudolongum were obtained from chicks, while the others were from free-range adult hens. Growth (in MRSc) at the poultry physiological temperature, acids production in caecal water with raffinose (rCW), ex vivo adhesion (%) to avian intestinal epithelial cells (IEC), and auto-aggregation (%) were used for discrimination inter- and intra-specific. Significantly different acetic and lactic acids production and growth temperatures were observed in strains of the same species/subspecies. Remarkable auto-aggregation capability was observed in B. thermacidophilum subsp. thermacidophilum LET 406 (40.2 ± 1.1%), while adhesion property was highlighted in B. pseudolongum subsp. pseudolongum LET 408 (65.30 ± 4.75% in jejunum; 46.05 ± 2.80 in ileum). Scanning Electronic Microscopy of the interaction IEC-LET 408 revealed an irregular bacterial surface exhibiting vesicle-like arrangements and filaments that formed a network among bacteria cells and with the epithelial cells, as possible adaptative response to promote its persistence in the gut. These finds will be valuable for bacterial supplements design intended to intensive rearing.

National survey to update the diagnostic reference levels in interventional radiology procedures in Italy: working methodology.

Interventional Radiology (IR) deals with the diagnosis and treatment of various diseases through medically guided imaging. It provides unquestionable benefits to patients, but requires, in many cases, the use of high doses of ionizing radiation with a high impact on radiation risks to patients and to overall dose to the population. The International Commission on Radiological Protection introduced Diagnostic reference levels (DRLs) as an effective tool to facilitate dose verification and optimize protection for patients undergoing radiological procedures. In addition, EURATOM Council Directive 2013/59 and its Italian transposition (Legislative Decree 101/2020) have reiterated that DRLs must be established for many common radiological diagnostic procedures to compare the radiation dose delivered for the same diagnostic examination. Within this framework, Istituto Superiore di Sanità-Italian National Institute of Health (ISS)-, in collaboration with relevant Italian Scientific Societies, has provided documents on DRLs in radiological practices such as diagnostic and IR and diagnostic nuclear medicine. These reference documents enable National Hospitals to comply national regulation. The implementation of DRLs in IR is a difficult task because of the wide distribution of doses to patients even within the same procedure. Some studies have revealed that the amount of radiation in IR procedures is influenced more by the complexity of the procedure than by the weight of the patient, so complexity should be included in the definition of DRLs. For this reason, ISS promoted a survey among a sample of Italian Centers update national DRL in IR procedures with related complexity factors than can be useful for other radiological centers and to standardize the DRLs values. In the present paper the procedural methodology developed by ISS and used for the survey will be illustrated.

Accurate thermochemistry at affordable cost by means of an improved version of the JunChS-F12 model chemistry.

The junChS-F12 composite method has been improved by means of the latest implementation of the CCSD(F12*)(T+) ansatz and validated for the thermochemistry of molecules containing atoms of the first three rows of the periodic table. A thorough benchmark showed that this model, in conjunction with cost-effective revDSD-PBEP86-D3(BJ) reference geometries, offers an optimal compromise between accuracy and computational cost. If improved geometries are sought, the most effective option is to add MP2-F12 core-valence correlation corrections to CCSD(T)-F12b/jun-cc-pVTZ geometries without the need of performing any extrapolation to the complete basis set limit. In the same vein, CCSD(T)-F12b/jun-cc-pVTZ harmonic frequencies are remarkably accurate without any additional contribution. Pilot applications to noncovalent intermolecular interactions, conformational landscapes, and tautomeric equilibria confirm the effectiveness and reliability of the model.

Acute appendicitis in elderly during Covid-19 pandemic.

PURPOSE: During the past months, the Italian Government has reduced the restrictions and access to hospitals. Since then, up to 40% of non-traumatic abdominal emergencies have had unusual delayed treatment. Given the rapidly evolving situation and the absence of evidence to support recommendations during the pandemic, it is useful to assess how the current situation is influencing the management of elderly with acute appendicitis. METHODS: Between February 2020 and December 2020, all patients older than 68 years old undergone appendectomy were included. Surgical approach, hospital stay, post-operative complications, radiology reports, and histologic examination were included in the retrospective analysis and compared with a same sample of the same period before the pandemic. RESULTS: Twenty-seven patients underwent appendectomy for acute appendicitis during the pandemic and 34 patients in the pre-outbreak period. Laparoscopic approach was completed in 51.8% of the cases, while conversion to laparotomy in 22.3% of patients and open procedure in the 25.9%, before the pandemic 73.6%, 14.7%, and 11.7%, respectively. During the pandemic, complicated appendicitis occurred in 59.3% of the cases (26.5% before the outbreak). One patient was treated for a pelvic abscess, while no minor complications were detected. No mortality rate was reported, with a mean hospital stay of 5.64 days during the outbreak and 4.21 days before the pandemic. CONCLUSION: Our data highlighted a partial delay in diagnosis in the elderly group, and an increase in complicated appendicitis also demonstrated by the need for conversion to laparotomy.

Sclerotherapy with 3% polidocanol foam for third- and fourth-degree hemorrhoids as "bridge treatment" during the COVID-19 pandemic in Italy.

PURPOSE: In Italy, colorectal surgery has been strongly affected with the vast majority (90%) of operations treating benign diseases, with an estimated overall 12-week cancellation rate of 72%. Little is known on how to best manage patients with benign diseases and the consequences this interruption of care will have in post-pandemic times. Proctologic diseases have social, psychological, and healthcare repercussions for their high incidence and great impact on the quality of life. METHODS: We decided to treated 10 urgent cases affected from III- and IV-degree hemorrhoids with 3% polidocanol foam in attempt to reduce hemorrhoidal symptoms while waiting for surgery so called "bridge treatment". RESULTS: During the follow-up no complications were occurred, and all patients had resolution of bleeding and pruritus with a mean VAS of 1 (range, 0-1). CONCLUSIONS: This treatment could reduce the bleeding that is the main symptom from which patients suffer and for which they underwent proctological evaluation and surgery. According to our preliminary experience in the impossibility of accessing the surgery during the COVID-19 pandemic, ST could be considered as the treatment of choice in those patients who are suffering from grade III- and IV-degree hemorrhoids while waiting for surgery.

The social implications of participant choice on adherence to Isonaizid Preventive Therapy (IPT): A follow-up study to high completion rates in Eswatini.

BACKGROUND: Eswatini (formerly Swaziland) has one of the highest rates of TB and HIV co-disease in the world. Despite national efforts to improve service delivery and prevent TB and HIV transmission, rates remain high. A recent prospective, observational study of integrated, patient-selected IPT delivery showed extraordinary improvements in IPT adherence, running counter to previous assumptions. This prompted the need to understand contextual and unseen study factors that contributed to high rates of adherence. OBJECTIVE: To investigate high rates of IPT adherence rates among people living with HIV who participated in an observational study comparing modes of IPT delivery. METHODS: Community-based participatory research guided the development of in-person administration of semi-structured questionnaires. Observational and field note data were analyzed. Qualitative data were analyzed using content analysis. RESULTS: We interviewed 150 participants and analyzed responses from the 136 who remembered being given a choice of their IPT delivery method. Fifty-seven percent were female and the median age was 42. Nearly 67% of participants chose to receive facility-based IPT. High rates of self-reported IPT treatment adherence were linked to four key concepts: 1) adherence was positively impacted by community education; 2) disclosure of status served to empower participant completion; 3) mode of delivery perceptions positively impacted adherence; and 4) choice of treatment delivery seen as helpful but not essential for treatment completion. DISCUSSION: Achieving higher rates of IPT adherence in Eswatini and similar rural areas requires community-engaged education and outreach in coordination with care delivery systems.

Integrated and patient-selected care facilitates completion of isoniazid preventive therapy in Eswatini.

SETTING: Five human immunodeficiency virus (HIV) care facilities in Eswatini. OBJECTIVE: To identify critical factors that enabled persons living with HIV to successfully complete a 6-month course of isoniazid preventive therapy (IPT) provided through a choice of facility-based or community-based delivery, coordinated with antiretroviral therapy (ART) refills. DESIGN: This was a mixed methods, retrospective cross-sectional study. RESULTS: Between June and October 2017, we interviewed 150 participants who had completed IPT in the previous year. Fourteen participants did not recall being offered a choice, and were excluded from the analysis. Of the remaining 136, 56.6% were female and 64.7% chose facility-based care; the median age was 42.5 years. Most participants reported that having a choice was important to their treatment completion (87.7%) and that linking IPT and ART refills facilitated undergoing IPT (98.5%). Participants were knowledgeable about the benefits of IPT and valued the education received from their providers. Participants also reported a high rate of IPT disclosure (95%) to friends and family members. CONCLUSION: Offering patients a choice of IPT delivery, linking IPT with ART refills, emphasizing patient education and engagement with healthcare workers, and supporting disclosure of IPT are critical factors to enabling IPT completion. These interventions should be incorporated throughout Eswatini and in similar high tuberculosis and HIV burden settings.

Transperineal rectocele repair with biomesh: updating of a tertiary refer center prospective study.

PURPOSE: Symptomatic rectocele results in obstructed defecation and constipation. Surgical repair may provide symptomatic relief. A variety of surgical procedures have been used in the rectocele repair to enhance anatomical and functional results and to improve long-term outcomes. METHODS: In this prospective study, we treated 25 selected women suffering from simple symptomatic rectocele with transperineal repair using porcine dermal acellular collagen matrix Biomesh (Permacol®). Watson score and SF-36 questionnaire were used to evaluate postoperative outcomes and quality of life. RESULTS: Follow-up ranged from 12 to 24 months, the mean total Watson score was significantly lower than the preoperative score (P < 0.001), and every patient has improved functional outcomes. There were no major intraoperative or postoperative complications. Two cases of urinary infection and 4 patients delayed wound healing were reported. Those patients who were sexually active prior to surgery have not experienced problems with sexual function or dyspareunia. CONCLUSIONS: Despite lack of comparative study in literature, rectocele repair with Permacol® by the transperineal approach seems an effective and safe procedure that avoids some of the complications associated with synthetic mesh use.

Barriers to tuberculosis care delivery among miners and their families in South Africa: an ethnographic study.

SETTING: South African miners suffer the highest tuberculosis (TB) rates in the world. Current efforts to stem the epidemic are insufficient. Historical legacies and persistent disease burden demand innovative approaches to reshape health care delivery to better serve this population. OBJECTIVE: To characterize social and behavioral health determinants for successful TB care delivery and treatment from the perspective of miners/ex-miners, health care workers and policy makers/managers. DESIGN: We conducted applied ethnography with 30 miners/ex-miners, 13 family/community members, 14 health care providers, and 47 local policy makers/managers in South Africa. RESULTS: Miners/ex-miners felt health care delivery systems failed to meet their needs. Many had experienced unnecessary physical and psychological harm due to limited health education about TB, minimal engagement in their own care, lack of trust in providers, and a system that did not value their experience. Stigma and fear associated with TB result in denial of symptoms and delays in care seeking. Health care providers and policy makers/managers felt discouraged by system constraints in providing optimal care. CONCLUSION: Our findings describe long-term effects of perpetual TB misinformation and stigma resulting from fear and disempowerment among miners and their families/communities. To reduce the TB burden, there is an urgent need to co-design a care delivery system with miners to better meet their needs.

Metabolic/Proteomic Signature Defines Two Glioblastoma Subtypes With Different Clinical Outcome.

Glioblastoma (GBM) is one of the deadliest human cancers. Because of the extremely unfavorable prognosis of GBM, it is important to develop more effective diagnostic and therapeutic strategies based on biologically and clinically relevant subclassification systems. Analyzing a collection of seventeen patient-derived glioblastoma stem-like cells (GSCs) by gene expression profiling, NMR spectroscopy and signal transduction pathway activation, we identified two GSC clusters, one characterized by a pro-neural-like phenotype and the other showing a mesenchymal-like phenotype. Evaluating the levels of proteins differentially expressed by the two GSC clusters in the TCGA GBM sample collection, we found that SRC activation is associated with a GBM subgroup showing better prognosis whereas activation of RPS6, an effector of mTOR pathway, identifies a subgroup with a worse prognosis. The two clusters are also differentiated by NMR spectroscopy profiles suggesting a potential prognostic stratification based on metabolic evaluation. Our data show that the metabolic/proteomic profile of GSCs is informative of the genomic/proteomic GBM landscape, which differs among tumor subtypes and is associated with clinical outcome.

Bilateral Ureteral Obstruction in Children after Appendectomy.

Acute renal failure due to bilateral ureteral obstruction is a rare complication after appendectomy in children. We report a case of bilateral ureteric obstruction in a 14-year-old boy nine days after surgery for an acute appendicitis. After saline-filling of the urinary bladder, transabdominal ultrasound demonstrated bilateral hydronephrosis of moderate degree. No abscess was found with CT but presence of millimetric stones on both distal ureters was shown, with bilateral calyceal dilatation. Cystoscopy revealed inflammatory changes in the bladder base. Following introduction of bilateral ureteric stents, there was rapid normalisation of urinary output and serum creatinine.

In vivo corneal confocal microscopy as a novel non-invasive tool to investigate cardiac autonomic neuropathy in Type 1 diabetes.

AIMS: To investigate whether small nerve fibre degeneration detected using corneal confocal microscopy is associated with cardiac autonomic neuropathy in people with Type 1 diabetes. METHODS: Thirty-six people with Type 1 diabetes and 20 age- and sex-matched healthy control subjects were enrolled. Tests to determine heart rate response to deep-breathing (expiratory-to-inspiratory ratio), heart rate response to lying-to-stand test (30:15 ratio) and blood pressure response to standing were performed to detect cardiac autonomic neuropathy. Corneal confocal microscopy was performed to assess: corneal nerve density and corneal nerve beadings; branching pattern; and nerve fibre tortuosity. RESULTS: Compared with control participants, participants with Type 1 diabetes had fewer (mean ± SD 45.4 ± 20.2 vs 92.0 ± 22.7 fibres/mm²; P < 0.001) and more tortuous corneal nerve fibres (20 participants with Type 1 diabetes vs four control participants had nerve tortuosity grade 2/3; P = 0.022) and fewer beadings (mean ± SD 15.1 ± 3.5 vs 20.6 ± 5.0; P < 0.001). Of the participants with Type 1 diabetes, 11 met the criteria for the diagnosis of cardiac autonomic neuropathy. Corneal nerve density was significantly lower in participants with cardiac autonomic neuropathy than in those without (mean ± SD 32.8 ± 16.4 vs 51.7 ± 18.9 fibres/mm²; P = 0.008). This difference remained significant after adjustment for age (P = 0.02), gender (P = 0.04), disease duration (P = 0.005), insulin requirement (P = 0.02) and neuropathy disability score (P = 0.04). CONCLUSION: This study suggests that corneal confocal microscopy could represent a new and non-invasive tool to investigate cardiac autonomic neuropathy in people with Type 1 diabetes. Larger studies are required to define the role of corneal confocal microscopy in the assessment of cardiac autonomic neuropathy.

Real-time PCR quantification of haematopoietic chimerism after transplantation: a comparison between TaqMan and hybridization probes technologies.

This study aimed to compare the sensitivity and accuracy of two methods of quantitative real-time polymerase chain reaction (qrt-PCR), in order to determine haematopoietic chimerism (CH): single nucleotide polymorphisms using TaqMan (TM) probes and insertion/deletion polymorphisms using Hybridization (Hyb) probes. A total of 106 samples from 20 patients who underwent allogenic stem cell transplantation (n = 14) or live-donor liver transplantation (n = 6) were studied. The mean level of chimerism was 8.37% for the TM method and 7.73% in the Hyb method, which was not significantly different (P = 0.69). The Pearson correlation coefficient between the two methods was r = 0.91 (P < 0.001). The estimation of the regression line, using the Passing and Balbock method was Intercept A -0.0381 [95% confidence interval (CI) -0.1265 to 0.0296) and Slope B: 1.04609(95% CI 0.9349-1.161). Bland-Altman data showed that the standard deviations, which differed between the two methods (%Hyb-%TM), were 0.98 and -1.28. The accuracy and sensitivity of qrt-PCR chimerism is independent of the method used if the optimization is adequate and satisfies the criteria for adequate study. Real-time PCR, independent of the method adopted, is a very good tool for study levels of CH.

Living donor liver transplantation: usefulness of hemostatic and prothrombotic screening in potential donors.

Bleeding and thrombosis are serious complications of living donor liver transplantation (LDLT). The aim of this paper was to describe the results of a screening for coagulation disorders, including for thrombophilic factors, in potential living liver graft donors and to evaluate thrombotic and bleeding events in donors and recipients, during and after the procedure. From January 2001 to January 2007, 41 LDLTs were performed at our institution. We performed systematic screening for bleeding or prothrombotic states among 188 potential donors, 38 (20.2%) of whom showed at least one abnormality. We rejected potential donors with factor V Leiden, prothrombin mutation G20210A, and deficiencies in anticoagulant proteins (protein C, protein S, and antithrombin) or coagulation factors. Bleeding and thrombotic events in donors and recipients of the 41 LDLTs were evaluated during 7 days to 70 months follow-up. No major bleeding events were detected in the donors. Neither donor nor recipient experienced venous thrombosis or pulmonary embolism. Among all recipients, six suffered hepatic artery thrombosis including five in the first month probably related to surgery. Deep venous thrombosis and pulmonary embolism are well-known complications of hepatic surgery; Prothrombotic abnormalities in the donor can be transmitted to the recipient, leading to increased risk of serious postoperative events. Although the cost-effectiveness is not definitely established, we recommend systematic screening for hemostatic and prothrombotic disorders to prevent more morbidity of a procedure that already has high risks of bleeding and thrombosis.

Metabolism of glutathione in tumour cells as evidenced by 1H MRS.

1H MRS signals of glutathione and of free glutamate were examined in samples from cultured tumour cells, namely MCF-7 from mammary carcinoma and TG98 from malignant glioma, with the aim of relating signal intensities to aspects of GSH metabolism. Spectra of cells harvested at different cell densities suggest that GSH and glu signal intensities are related to cell density and proliferation and their ratio is dependent on the activity of the gamma-glutamyl cysteine synthetase. The hypothesis is confirmed by experiments performed on cells treated with buthionine sulfoximine that inhibits the enzyme activity.

Optical images of dose distributions in Gel-Fricke: dosimetric performances of the gel.

The purpose of this work was to examine the dosimetric performances of the radiochromic Fricke-Agarose-Xylenol Orange gel by optical measurements in order to perform dose reconstructions, in view of a future development for 3-D maps. Optical images and dose-response curves of the gel were obtained by a CCD-based device, originally designed for reading radiochromic films, that was modified to meet the optical properties of the dosemeter. With a resolution of 0.18 x 0.18 mm the optimum range of doses in which per cent uncertainty is lower than 2% was 3-10 Gy. The minimum detectable dose, estimated as the absorbed dose corresponding to 3 SD above background, was 0.1 Gy. With a resolution of 1.98 x 1.98 mm the optimum range of doses in which per cent uncertainty is lower than 2% was 0.3-10 Gy. The minimum detectable dose, estimated as the absorbed dose corresponding to 3 SD above background, was 0.015 Gy. The comparison with alanine dosemeters in the dose range 7-10 Gy showed agreement within a few per cent and the same agreement was observed for the comparison with TLD in the range 1-3 Gy.

Radiation effects in cultured tumour cells examined by 1H MRS: mobile lipids modulation and proliferative arrest.

Much attention has been devoted in the past to monitor changes of mobile lipid (ML) (1)H MRS signals in spectra of tumour cells. The purpose of this work is to exploit ML signals to provide information on cell metabolism after irradiation, comparing tumour cells characterised by different radiosensitivity and relating MRS findings to changes in cell proliferation and delays in cell cycle phases. Irradiated HeLa cells present less intense ML signals with respect to controls. The opposite is true for MCF-7 cells. A G(2) arrest is observed for both cell lines after irradiation. In HeLa cells, G(1) decreases and S phase is maintained; a sub G(1) peak is also visible. In MCF-7 cells, G(1) is decreased and S phase is strongly reduced, while no sub G(1) is present. The observed changes in ML are tentatively associated to cell cycle regulation of phospholipid synthesis. Mathematical modelling of ML variations is in progress.

Is it possible to predict postnatal depression? Research into the origin of blues and depression. The role of the gynaecologist.

PURPOSE OF INVESTIGATION: the authors investigated the role of the gynaecologist in trying to predict postnatal depression. Women suffering from postnatal depression (PND) are the expression of a failure to adapt to the unjust demands that society makes on them. Isolation and the lack of social support during and after the pregnancy are very strong factors of risk for postpartum depression. The problem is serious and it develops rapidly, within two weeks of childbirth. It requires immediate and continuous treatment. There is also some risk of infanticide or suicide. METHODS: submission of a questionnaire based on the EPDS (Edinburgh Postnatal Depression Scale) to 222 pregnant women between 28 and 40 weeks of gestation. RESULTS: 28.4% of the patients resulted positive to the test (score > 12 points) and the hypothesis would seem to be that there is a continuum between depression suffered pre- and postpartum, and that the depression begins during pregnancy and then becomes more acute or less latent at the time of confinement. CONCLUSIONS: the gynaecologist must have a role in helping to achieve an early diagnosis of the depression, because the earlier the problem is recognised the greater are the possibilities of therapy and preventing any consequences for the entire family group.