Reciprocal Translocations in Cattle: frequency estimation

Chromosomal anomalies, like Robertsonian and reciprocal translocations represent a big problem in cattle breeding as their presence induces, in the carrier subjects, a well documented fertility reduction. In cattle reciprocal translocations (RCPs, a chromosome abnormality caused by an exchange of material between nonhomologous chromosomes) are considered rare as to date only 19 reciprocal translocations have been described. In cattle it is common knowledge that the Robertsonian translocations represent the most common cytogenetic anomalies, and this is probably due to the existence of the endemic 1;29 Robertsonian translocation. However, these considerations are based on data obtained using techniques that are unable to identify all reciprocal translocations and thus their frequency is clearly underestimated. The purpose of this work is to provide a first realistic estimate of the impact of RCPs in the cattle population studied, trying to eliminate the factors which have caused an underestimation of their frequency so far. We performed this work using a mathematical as well as a simulation approach and, as biological data, we considered the cytogenetic results obtained in the last 15 years. The results obtained show that only 16% of reciprocal translocations can be detected using simple Giemsa techniques and consequently they could be present in no less than 0,14% of cattle subjects, a frequency five times higher than that shown by de novo Robertsonian translocations. This data is useful to open a debate about the need to introduce a more efficient method to identify RCP in cattle

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Snorting the clivus away : An extreme case of cocaine-induced midline destructive lesion

Cocaine is a drug with relevant socioeconomic and clinical implications, which is usually recreationally used for its stimulant effects. It is widely known that the habit of snorting cocaine is associated with a peculiar type of drug-induced chronic rhinitis, which leads to inflammation of the sinonasal mucosa, slowly progressing to a destruction of nasal, palatal and pharyngeal tissues. These characteristic lesions due to cocaine abuse are commonly called cocaine-induced midline destructive lesions (CIMDL). Diagnosis is not always straightforward, since various conditions, mainly vasculitis, might mimic this acquired condition. The extent of pharyngeal involvement varies, although often a prolonged abuse can trigger a progressive destruction of oral and nasal tissues, with development of infections and recurrent inflammation. Our article focuses on cocaine as a world health problem with important ear, nose and throat implications and discusses the difficulties in diagnosing and treating CIMDL, through a case report

Genotoxic activity of the Fumonisin B1 mycotoxin in cultures of bovine lymphocytes

The fumonisins, produced by fungi that infest foodstuffs, in particular corn, are responsible for a series of illnesses and&nbsp; toxicosis in various species of animals, including humans. There is still not detailed information about the genotoxic and&nbsp; mutagenic activity of Fumonisin B1 (FB1), but it is clear that it interferes with growth control, differentiation and cellu-&nbsp; lar apoptosis. The purpose of this study was to assess the genotoxic potential of Fumonisin B1 using in vitrocultures of&nbsp; bovine lymphocytes, through the calculation of the &lsquo;mitotic index&rsquo; (MI), the frequency of &lsquo;sister chromatid exchange&rsquo;&nbsp; (SCE) and the &lsquo;micronucleus test&rsquo; (MN). The bovine lymphocytes were exposed to different concentrations of FB1 (25,&nbsp; 50 and 100 &micro;M) in order to find out which amount is sufficient to cause a reduction in the mitotic potential of the cells,&nbsp; the onset of MN and a higher frequency of SCE. The results obtained show a considerable reduction in the &lsquo;mitotic index&rsquo;&nbsp; with a FB1 concentration of 50 &micro;M, an increase in the frequency of MN with a concentration of 50 &micro;M and a significant&nbsp; increase in the SCE with a concentration of 100 &micro;M.&nbsp; In the light of the information we have obtained, compared with that of other Authors, we feel that the genotoxic poten-&nbsp; tial of FB1 has been underestimated until now and should, therefore, be reconsidered.</p

Enhanced motor noise in an autism subtype with poor motor skills

BackgroundMotor difficulties are common in many, but not all, autistic individuals. These difficulties can co-occur with other problems, such as delays in language, intellectual, and adaptive functioning. Biological mechanisms underpinning such difficulties are less well understood. Poor motor skills tend to be more common in individuals carrying highly penetrant rare genetic mutations. Such mechanisms may have downstream consequences of altering neurophysiological excitation-inhibition balance and lead to enhanced behavioral motor noise.MethodsThis study combined publicly available and in-house datasets of autistic (n = 156), typically-developing (TD, n = 149), and developmental coordination disorder (DCD, n = 23) children (age 3-16 years). Autism motor subtypes were identified based on patterns of motor abilities measured from the Movement Assessment Battery for Children 2nd edition. Stability-based relative clustering validation was used to identify autism motor subtypes and evaluate generalization accuracy in held-out data. Autism motor subtypes were tested for differences in motor noise, operationalized as the degree of dissimilarity between repeated motor kinematic trajectories recorded during a simple reach-to-drop task.ResultsRelatively 'high' (n = 87) versus 'low' (n = 69) autism motor subtypes could be detected and which generalize with 89% accuracy in held-out data. The relatively 'low' subtype was lower in general intellectual ability and older at age of independent walking, but did not differ in age at first words or autistic traits or symptomatology. Motor noise was considerably higher in the 'low' subtype compared to 'high' (Cohen's d = 0.77) or TD children (Cohen's d = 0.85), but similar between autism 'high' and TD children (Cohen's d = 0.08). Enhanced motor noise in the 'low' subtype was also most pronounced during the feedforward phase of reaching actions.LimitationsThe sample size of this work is limited. Future work in larger samples along with independent replication is important. Motor noise was measured only on one specific motor task. Thus, a more comprehensive assessment of motor noise on many other motor tasks is needed.ConclusionsAutism can be split into at least two discrete motor subtypes that are characterized by differing levels of motor noise. This suggests that autism motor subtypes may be underpinned by different biological mechanisms

Horizontal glottectomy: is it an out-of-date procedure?

Purpose: The aim of the study is to illustrate our experience with horizontal glottectomy (HG), reviewing the indications and results of this uncommon partial laryngectomy. Materials and Methods: It is a retrospective study. We completed a chart review of patients who underwent partial laryngectomy between May 2003 and June 2010. Patients who underwent HG were included in the study. Data obtained were collected and analyzed. Results: Seven male patients were included in the study (mean age was 78 years; range, 69-88 years). In all cases, the TNM classification was pT1bN0M0 apart from one patient who had pT1N1MO. Three patients had a moderately differentiated neoplasm (G2), whereas 4 patients had a well-differentiated tumor (G1). Tracheotomy tube removal, oral feeding, and voice analysis have been evaluated and reported in the study. Mean follow-up was 16 months. Conclusions: Horizontal glottectomy might be a worthwhile treatment option in selected patients nowadays. In older patients with anterior commissure involvement, this procedure guarantees adequate functional and good oncological results. This study may possibly help surgeons dealing with glottic cancer involving the anterior commissure because we believe that some patients could benefit from HG, even in this radiotherapy and transoral laser surgery "era." (C) 2011 Elsevier Inc. All rights reserved