Genome-wide homozygosity in Maremmana cattle

The current availability of large numbers of single nucleotide polymorphisms (SNPs) throughout the genome makes these markers particularly suitable for the detection of patterns of genetic diversity and of genome-wide homozygosity in animal populations. The aim of this work was to estimate genetic diversity and homozygosity in the Maremmana cattle breed. We used a sample of 149 animals (males and females) genotyped with the BovineSNP50 v2 (54K) Illumina BeadChip. After editing for call-rate > 0.9 and removing SNP unassigned or on the sex chromosomes, 128 animals and 50,814 SNPs were left. We estimated the following genetic parameters: observed and expected heterozygosity (Ho and He), minor allele frequency (MAF), and the FIS statistic. We also scanned the genome for runs of homozygosity (ROH). In the present study, ROH were detected based on 20-SNP-long sliding-windows, and allowing for a maximum of 1 missing and 1 heterozygote genotype, and a maximum gap between consecutive SNP of 105 bp. ROH contained minimum 10 SNPs, and had a minimum length of 1 Mb and a minimum density of 1 SNP every 50 kbps. The average Ho and He were 0.374 \ub10.132 and 0.365 \ub10.120, respectively, and the average MAF was 0.274 \ub10130. These values are consistent with the range observed in other cattle breeds. We obtained some negative values for FIS (-0.162 to 0.180) which corresponded to animals with lower than average homozygosity. In total, 10,465 ROH were detected (81.75 per animal), with an average length of 2.69 Mb. Most ROH (74%) had length 64 2 Mb. ROH are contiguous lengths of homozygous genomic segments where the two inherited haplotypes are identical. ROH indicate genomic regions where a reduction in heterozygosity occurred, and offer new opportunities to estimate inbreeding (F). The inbreeding coefficient based on ROH (FROH) was estimated by the ratio between the total ROH length and the size of the genome in each animal. Average FROH was 0.0869 \ub10.032. Unlike inbreeding estimated based on Ho, FROH is not influenced by allele frequencies (sampling) and can distinguish recent from ancient inbreeding. However, FROH requires SNP positions to be known (unlike Ho). Two genomic regions with ROH in over 60% of the animals were found: one on BTA6 (38.6-39.7 Mbps), one on BTA13 (54.3-54.8 Mbps). These may highlight regions where selective pressures have shaped the genome of the Maremmana breed

The repair of the Achilles tendon rupture: comparison of two percutaneous techniques

This study proposes a comparison between two percutaneous techniques of subcutaneous Achilles tendon rupture by evaluating the risk of lesion developing, the morbidity of the surgical technique adopted and the effectiveness of each technique. Sixty patients were operated at Padua Orthopaedic Clinic by using the two different procedures: (1) Ma and Griffith in 30 cases and (2) Tenolig in 30 cases. Risk of rupture developing has been evaluated in relation to sex, age, side, kind of trauma, work and presence of preoperative risk factors. The Morbidity of surgical technique has been evaluated in with respect to surgical time, hospital permanence, immobilization, active nonweight-bearing mobilization, assisted weight bearing until the full one, number of early and late complications before and after hospital discharge. Effectiveness has been evaluated in relation to return time to common life, work and sport; anatomical and functional features have been evaluated using McComis score, rating results as: very good (from 80 to 70), good (from 69 to 60), fair (from 59 to 50) and poor (<50). Tenolig group shows shorter average time from hospital admission and operation, hospital permanence and immobilization (P < 0.05), and it results in an easier and quicker execution and functionally stimulates the tendon healing in a short time. Effectiveness was the same for both techniques because average McComis score was good (P = 0.35), and there was no significant differences in common life returning time (P = 0.12). Tenolig technique seems to be preferable to Ma and Griffith

Implementing dynamic changes in automation support using ocular-based metrics of mental workload: a laboratory study.

Adaptive Automation has been often invoked as a remedy to indiscriminate introduction of automation support. However, this form of automation is difficult to implement without a sensitive and reliable index of the Operator Functional State. In a series of studies we have showed the usefulness of the distribution of eye fixations as an index of mental workload to be used as a trigger of automation. Particularly, the distribution pattern was found to be sensitive to taskload variations and types, thus making it very appealing for designing adaptive systems. This approach seems to be valid and reliable, but a necessary step in this research program would be testing the effectiveness of automation driven by fixation distribution and its capability in reducing the workload. The present study is a first attempt to carry out such validation

Juvenile diabetes and systemic sclerosis: just a coincidence?

Background: Limited joint mobility (LJM), previously known as cheiroarthropathy, refers to the presence of reduced extension at the finger joints in people with diabetes and may be associated with scleroderma-like syndromes such as diabetic sclerodactyly. While scleroderma-like syndromes and LJM have been observed in patients with long-term diabetes and associated complications, the coexistence of diabetes with Juvenile systemic sclerosis (jSSc) is rarely described. Case presentation: We describe the case of a 14-year-old boy with long-lasting type 1 diabetes (T1D) and suspected LJM associated with Raynaud phenomenon, sclerodactyly and tapering of the fingertips. A comprehensive work-up showed positive autoantibodies (ANA, anti-Ro-52, anti-Mi-2b), abnormal nailfold capillaroscopy with a scleroderma pattern, interstitial lung disease and cardiac involvement. The overall clinical picture was consistent with the diagnosis of jSSc. Conclusions: LJM can be the initial sign of underlying systemic sclerosis. Nailfold capillaroscopy may help differentiate jSSc from classical LJM in pediatric patients with T1D and finger contractures or skin induration of no clear origin. This case report provides a starting point for a novel hypothesis regarding the pathogenesis of jSSc. The association between T1D and jSSc may be more than a coincidence and could suggest a relationship between glucose metabolism, fibrosis and microangiopathy

Altered drainage patterns in patients with melanoma and previous axillary dissection.

The incidence of melanoma is increasing rapidly in the United States. Sentinel lymph node biopsy is an important diagnostic tool in the treatment and staging of melanoma. However, many patients with melanoma will have had lymph node surgery for previous melanoma or breast cancer. We set out to examine alterations in drainage patterns in patients with previous axillary dissection for breast cancer. We reviewed four patients with truncal and/or extremity melanomas and examined their lymphoscintigraphy and drainage patterns. Three patients with truncal melanoma mapped to cervical lymph nodes and a fourth patient with an arm melanoma mapped to her previously dissected axilla. Sentinel lymph node mapping is still an important adjunct in patients with melanoma despite previous axillary dissection

Birth control knowledge among freshmen of four Italian universities

Since sexual health education (SHE) is not mandatory in Italian schools, we conducted a survey on freshmen of four Italian university campuses in 2012 to investigate the respective level of sexual health knowledge (SHK) in relation to birth control, with the aim to inform public health policy makers. A convenience strategy was employed to sample 4,552 freshmen registered with various undergraduate courses at four Italian universities: Padua university (Veneto Region); university of Milan (Lombardy Region); university of Bergamo (Lombardy Region); university of Palermo (Sicily Region). We investigated the level of SHK on birth control using 6 proxy indicators: (1) the average length of a woman\u2019s period [outcome with 3 levels: wrong (base) vs. acceptable vs. correct]; (2) the most fertile interval within a woman\u2019s period (binary outcome: correct vs. wrong answer); (3) the event between the end of a period and the beginning of the next cycle (binary outcome: correct vs. wrong answer); (4) the average survival of spermatozoa in the womb (binary outcome: correct vs. wrong answer); (5) the concept of contraception (binary outcome: correct vs. wrong answer); (6) the efcacy of various contraceptives to prevent unintended pregnancies (linear score: 0\u201317). We ftted 6 separate models of multiple regression: multinomial for outcome 1; logistic for outcomes 2, 3, 4, 6; linear for outcome 6. Statistical estimates were adjusted for a number of socio-demographic factors. Results were expressed as odds ratios (OR) for the 4 multiple logistic regression models, linear coefcients (RC) for the linear regression model and relative risk ratio (RRR) for the multinomial logistic regression model. The level of signifcance of each risk estimate was set at 0.05. The level of SHK of freshmen sampled was rather low, as 60% interviewees did not know the average length of a woman\u2019s period, the average survival of spermatozoa in the womb and the concept of contraception, whilst the most fertile interval within a woman\u2019s period was known only to 55% of interviewees. The mean score of SHK on the efcacy of various contraceptive methods was only 5 (scale 0\u201317). Some categories of students were consistently and signifcantly less knowledgeable on birth control at multivariable analysis: males; students from the university of Palermo; those with vocational secondary school education and those not in a romantic relationship at the time the survey was conducted. The results of this survey clearly call for the introduction of SHE programs in Italian schools, as already done in several European countries. School SHE should start as early as possible, ideally even before secondary school. SHE should be holistic and delivered with a multiple agency coordinated approach involving the Ministry of Health, the Ministry of Education, University and Scientifc Research (MIUR), families, schools, public health departments, primary health care providers, pharmacists, media, other

Determinants of Length of Stay After Vaginal Deliveries in the Friuli Venezia Giulia Region (NorthEastern Italy), 2005\u20132015

Although length of stay (LoS) after childbirth has been diminishing in several high-income countries in recent decades, the evidence on the impact of early discharge (ED) on healthy mothers and term newborns after vaginal deliveries (VD) is still inconclusive and little is known on the characteristics of those discharged early. We conducted a population-based study in Friuli Venezia Giulia (FVG) during 2005\u20132015, to investigate the mean LoS and the percentage of LoS longer than our proposed ED benchmarks following VD: 2 days after spontaneous vaginal deliveries (SVD) and 3 days post instrumental vaginal deliveries (IVD). We employed a multivariable logistic as well as a linear regression model, adjusting for a considerable number of factors pertaining to health-care setting and timeframe, maternal health factors, newborn clinical factors, obstetric history factors, socio-demographic background and present obstetric conditions. Results were expressed as odds ratios (OR) and regression coefcients (RC) with 95% confdence interval (95%CI). The adjusted mean LoS was calculated by level of pregnancy risk (high vs. low). Due to a very high number of multiple tests performed we employed the procedure proposed by Benjamini-Hochberg (BH) as a further selection criterion to calculate the BH p-value for the respective estimates. During 2005\u20132015, the average LoS in FVG was 2.9 and 3.3 days after SVD and IVD respectively, and the pooled regional proportion of LoS&gt;ED was 64.4% for SVD and 32.0% for IVD. The variation of LoS across calendar years was marginal for both vaginal delivery modes (VDM). The adjusted mean LoS was higher in IVD than SVD, and although a decline of LoS&gt;\u2009ED and mean LoS over time was observed for both VDM, there was little variation of the adjusted mean LoS by nationality of the woman and by level of pregnancy risk (high vs. low). By contrast, the adjusted fgures for hospitals with shortest (centres A and G) and longest (centre B) mean LoS were 2.3 and 3.4 days respectively, among \u201clow risk\u201d pregnancies. The corresponding fgures for \u201chigh risk\u201d pregnancies were 2.5 days for centre A/G and 3.6 days for centre B. Therefore, the shift from \u201clow\u201d to \u201chigh\u201d risk pregnancies in all three latter centres (A, B and G) increased the mean adjusted LoS just by 0.2 days. By contrast, the discrepancy between maternity centres with highest and lowest adjusted mean LoS post SVD (hospital B vs. A/G) was 1.1 days both among \u201clow risk\u201d (1.1 = 3.4\u20132.3 days) and \u201chigh risk\u201d (1.1 = 3.6\u20132.5) pregnanices. Similar patterns were obseved also for IVD. Our adjusted regression models confrmed that maternity centres were the main explanatory factor for LoS after childbirth in both VDM. Therefore, health and clinical factors were less infuential than practice patterns in determining LoS after VD. Hospitalization and discharge policies following childbirth in FVG should follow standardized guidelines, to be enforced at hospital level. Any prolonged LoS post VD (LoS&gt;\u2009ED) should be reviewed and audited if need be. Primary care services within the catchment areas of the maternity centres of FVG should be improved to implement the follow up of puerperae undergoing ED after VD. At the beginning of the 20th century home births were the norm and hospital deliveries very rare. Women started to deliver in hospital during World War 2 (WW2), in facilities near the military areas where their respective partners were training. Tis trend continued in the decades following WW2, with standard length of stay afer childbirth (LoS) increasing up to 10 days. In the 70 ies some USA hospitals started to assess the health of mothers and newborn for eligibility to returnhome within 12\u201324 hours afer childbirth, with a midwife on call for domiciliary care up to 3 days for 2 weekspost discharge. In 1992 the American Academy of Pediatrics (AAP) and the American College of Obstetricians and Gynecologists (ACOG) formalized the most frequently shared defnition of early discharge (ED) afer childbirth worldwide as a LoS less than 48 h post spontaneous vaginal deliveries (SVD) and less than 96 h post cesarean section (CS). Tereafer the reduction of LoS expanded to other high-income countries, with increasing applications of ED. LoS afer childbirth remained however a controversial aspect of obstetric care, creating an open debate not only on its impact on the health of mothers and babies but also on health policies, state legislations and functioning of the respective health care systems. Nevertheless, ED of mothers and newborn has in fact increased dramatically in several high-income countries over the past 10\u201315 years. However, the evidence on the impact of ED on healthy mothers and term newborns ( 6537 weeks) afer a vaginal delivery (VD) is still inconclusive and little is known of the characteristics of those discharged early. Since LoS has become a critical indicator of efciency of health care delivery, understanding its associated factors could provide information helpful in the reduction of health care costs, improvement in the delivery of obstetric care, containment of untoward events associated with comorbidities and complications requiring readmission. For instance, in Canada (excluding Quebec) from 2003 to 2010, neonatal readmission rates were lowest for LoS of 1\u20132 days following VD and 2\u20134 days afer CS. Several factors are reportedly associated with LoS in the open literature, including readiness for discharge (clinical and perceived) of the mother8,17\u201319. However, information on the impact of medical/obstetrical conditions associated with pregnancies is scarce or totally lacking. Using a comprehensive database with information on a considerable number of factors, we previously reviewed the case mix of hospital performance by LoS post SVD as well as instrumental vaginal deliveries (IVD) during 2005\u20132015 in Friuli Venezia Giulia (FVG), a region of North-Eastern Italy. In this study we present the impact of the outstanding determinants on LoS following SVD and IVD, with the aim of inforing health care policy makers

Henoch-Sch&#246;nlein Purpura in children: Not only kidney but also lung

Background: Henoch-Sch\uf6nlein Purpura (HSP) is the most common vasculitis of childhood and affects the small blood vessels. Pulmonary involvement is a rare complication of HSP and diffuse alveolar hemorrhage (DAH) is the most frequent clinical presentation. Little is known about the real incidence of lung involvement during HSP in the pediatric age and about its diagnosis, management and outcome. Methods: In order to discuss the main clinical findings and the diagnosis and management of lung involvement in children with HSP, we performed a review of the literature of the last 40 years. Results: We identified 23 pediatric cases of HSP with lung involvement. DAH was the most frequent clinical presentation of the disease. Although it can be identified by chest x-ray (CXR), bronchoalveolar lavage (BAL) is the gold standard for diagnosis. Pulse methylprednisolone is the first-line of therapy in children with DAH. An immunosuppressive regimen consisting of cyclophosphamide or azathioprine plus corticosteroids is required when respiratory failure occurs. Four of the twenty-three patients died, while 18 children had a resolution of the pulmonary involvement. Conclusions: DAH is a life-threatening complication of HSP. Prompt diagnosis and adequate treatment are essential in order to achieve the best outcome