A sperm tail defect associated with infertility in a goat — Case report

Semen of an infertile Dutch White (Saanenthal) goat buck was examined. Light and electron microscopic examinations showed aberrations of the sperm tails resembling the so-called Dag or Dag-like defects described in several cattle breeds. Ejaculated semen showed that virtually all of the cells had strongly coiled or broken tails, or fractured midpieces. Ultrastructural investigations by transmission electron microscopy (TEM) showed uneven distribution of the mitochondria in the midpiece. Coiled tails were encapsulated by a common membrane, and dislocated axial fibres and different membranous structures were also present. The ultrastructural characteristics of the defective sperm tails, the missing parts of the axial fibre bundle and the misalignment of the mitochondria indicate that this first case reported in goat is similar to the Dag-like defect in cattle

Prevalence of other autoimmune diseases in polyglandular autoimmune syndromes type II and III

Polyglandular autoimmune syndromes (PAS) are complex, heterogeneous disorders in which various autoimmune diseases can occur, affecting both endocrine and non-endocrine organs. In this meta-analysis, the prevalence of associated autoimmune disorders was investigated in PAS II and III.A comprehensive search in MEDLINE and Embase databases identified 479 studies with the keywords of PAS II and PAS III. 18 records containing a total of 1312 patients fulfilled our inclusion criteria (original studies reporting at least 10 cases and containing the combination of other autoimmune disorders) and were selected for further analysis. A meta-analysis of prevalence was performed using the random-effects model with the calculation of 95% confidence intervals (CI). Results of each meta-analysis were displayed graphically using forest plots.Distinction between PAS II and PAS III was made in 842 cases, of which 177 and 665 were PAS II and III (21.1 vs 78.9%), respectively. The prevalence of Hashimoto's thyroiditis was significantly higher than that of Graves's disease (39% [95% CI 17-65%] vs. 4% [95% CI 0-10%], respectively; p = 0.001). In PAS II, Addison's disease (AD) coexisted with AITDs, T1DM or the combination of these conditions in 65, 18 and 10% of cases, respectively. In addition, one other endocrine and five non-endocrine organ-specific autoimmune disorders were reported. In PAS III, two other autoimmune endocrinopathies, six non-endocrine organ-specific, and four systemic autoimmune disorders were found in combination with AITDs.AITDs, T1DM and AD are the most common combinations in PAS, thus screening for these conditions seems to be reasonable

Meta-Analysis of the Long Term Success Rate of Different Interventions in Benign Biliary Strictures.

BACKGROUND: Benign biliary stricture is a rare condition and the majority of the cases are caused by operative trauma or chronic inflammation based on various etiology. Although the initial results of endoscopic, percutaneous and surgical treatment are impressive, no comparison about long term stricture resolution is available. AIMS: The goal of this study was to compare the long term disease free survival in benign biliary strictures with various etiology after surgery, percutaneous transhepatic-and endoscopic treatment. METHODS: PubMed, Embase, and Cochrane Library were searched by computer and manually for published studies. The investigators selected the publications according to the inclusion and exclusion criteria, processed the data and assessed the quality of the selected studies. Meta-analysis of data of 24 publications was performed to compare long term disease free survival of different treatment groups. RESULTS: Compared the subgroups surgery resulted in the highest long term stricture resolution rate, followed by the percutaneous transhepatic treatment, the multiple plastic stent insertion and covered self-expanding metal stents (SEMS), however the difference was not significant. All compared methods are significantly superior to the single plastic stent placement. Long term stricture resolution rate irrespectively of any therapy is still not more than 84%. CONCLUSIONS: In summary, the use of single plastic stent is not recommended. Further randomized studies and innovative technical development are required for improving the treatment of benign biliary strictures

Tropical summer induces DNA fragmentation in boar spermatozoa: implications for evaluating seasonal infertility

Summer infertility continues to undermine pig productivity, costing the pig industry millions in annual losses. The boar’s inefficient capacity to sweat, non-pendulous scrotum and the extensive use of European breeds in tropical conditions, can make the boar particularly vulnerable to the effects of heat stress; however, the link between summer heat stress and boar sperm DNA damage has not yet been demonstrated. Semen from five Large White boars was collected and evaluated during the early dry, late dry and peak wet seasons to determine the effect of seasonal heat stress on the quality and DNA integrity of boar spermatozoa. DNA damage in spermatozoa during the peak wet was 16-fold greater than during the early dry and nearly 9-fold greater than during the late dry season. Sperm concentration was 1.6-fold lower in the peak wet than early dry whereas no difference was found across several motility parameters as determined by computer-assisted sperm analysis. These results demonstrate that tropical summer (peak wet season) induces DNA damage and reduces concentration without depressing motility in boar spermatozoa, suggesting that traditional methods of evaluating sperm motility may not detect inherently compromised spermatozoa. Boar management strategies (such as antioxidant supplementation) need to be developed to specifically mitigate this problem

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. TOP3A encodes topoisomerase III alpha (TopIIIα), which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination. We also identify a homozygous truncating variant in RMI1, which encodes another component of the BTRR complex, in two individuals with microcephalic dwarfism. The TOP3A mutations substantially reduce cellular levels of TopIIIα, and consequently subjects’ cells demonstrate elevated rates of SCE. Unresolved DNA recombination and/or replication intermediates persist into mitosis, leading to chromosome segregation defects and genome instability that most likely explain the growth restriction seen in these subjects and in Bloom syndrome. Clinical features of mitochondrial dysfunction are evident in several individuals with biallelic TOP3A mutations, consistent with the recently reported additional function of TopIIIα in mitochondrial DNA decatenation. In summary, our findings establish TOP3A mutations as an additional cause of prenatal-onset short stature with increased cytogenetic SCEs and implicate the decatenation activity of the BTRR complex in their pathogenesis

High versus low energy administration in the early phase of acute pancreatitis (GOULASH trial): protocol of a multicentre randomised double-blind clinical trial

Introduction Acute pancreatitis (AP) is an inflammatory disease with no specific treatment. Mitochondrial injury followed by ATP depletion in both acinar and ductal cells is a recently discovered early event in its pathogenesis. Importantly, preclinical research has shown that intracellular ATP delivery restores the physiological function of the cells and protects from cell injury, suggesting that restoration of energy levels in the pancreas is therapeutically beneficial. Despite several high quality experimental observations in this area, no randomised trials have been conducted to date to address the requirements for energy intake in the early phase of AP. Methods/design This is a randomised controlled two-arm double-blind multicentre trial. Patients with AP will be randomly assigned to groups A (30 kcal/kg/day energy administration starting within 24 hours of hospital admission) or B (low energy administration during the first 72 hours of hospital admission). Energy will be delivered by nasoenteric tube feeding with additional intravenous glucose supplementation or total parenteral nutrition if necessary. A combination of multiorgan failure for more than 48 hours and mortality is defined as the primary endpoint, whereas several secondary endpoints such as length of hospitalisation or pain will be determined to elucidate more detailed differences between the groups. The general feasibility, safety and quality checks required for high quality evidence will be adhered to. Ethics and dissemination The study has been approved by the relevant organisation, the Scientific and Research Ethics Committee of the Hungarian Medical Research Council (55961-2/2016/EKU). This study will provide evidence as to whether early high energy nutritional support is beneficial in the clinical management of AP. The results of this trial will be published in an open access way and disseminated among medical doctors

Comparative evaluation of the effect of antioxidants in the conservation of ram semen

The aim of the present study was to develop a treatment supporting the membrane of ram spermatozoa. Semen of different ejaculates collected from breeding rams was mixed andsamples of 109 sperm cells per ml and Tris-egg yolk extender were completed with the following antioxidants: a-tocopherol acetate (E), glutathione peroxidase (GP), Aromex® (AR), resveratrol (R), resveratrol + vitamin E (RE), resveratrol + Aromex® (RAR), resveratrol + GP (RGP). Peroxidation was evaluated by the analysis of malondialdehyde (MDA) during incubation for 30, 60 and 120 min at 37°C as well as during a 24-h incubation at 5°C. The success of preservation was checked in a 9-day-long period by observing the acrosomal defects and the motility of spermatozoa. Concentration of MDA was 4.06 nmol/109 spermatozoa in samples treated with 15 µg R while the control sample contained 69.79 nmol MDA per 109 spermatozoa after 24-h incubation. Following 30-, 60- and 120-min storage the concentration of MDA in control and R-treated samples was 25.89, 36.91, 49.57 and 3.69, 3.74, 3.74 nmol/109 spermatozoa, respectively. Moreover, a significantly higher proportion of motile sperm cells was observed in the treated than in the control samples. The frequency of acrosomal defects was lower in the treated groups than in the control. These results indicate that RAR treatment can improve the effects of ram semen preservation

Reproductive Capacity of Mangalica pigs – What is the Reality?

History of Mangalica pig is dated back to the first half of 19th century, however some former information is available of Mangalica ancestors in the 18th century. This fatty pig breed attained its’ typical characteristics till the last quarter of 19th century and these features are still existing. Since Mangalica pigs were nearly extinguished after 1950’s the relevant scientific and practical knowledge also stepwise reduced. In the present overview we compare in detail the ancient and modern information on Mangalica reproduction. First estrous of Mangalica gilts was described at around age of 10 to 11 month. Actually, Mangalica gilts can come in heat as early as 7 to 8 months of age and, therefore can have their first farrowing at 11 to 12 months of age. It was reported that several dam lines had quite high litter-size (8-9 piglets) at the beginning of 20th century, however due to different selection scheme these lines disappeared. Fortunately, nowadays we can identify again such more prolific sows. Throughout comparison of old and modern knowledge of Mangalica reproductive biology we should conclude that respectful incorporation of valuable ancient knowledge has same importance as the newest data collected by the most sophisticated instrumentation and methods. Synthesis of them is necessary for the preservation of original genetic value and the market oriented production.A história do porco Mangalica remonta à primeira metade do século XIX, no entanto, há informação sobre os seus ascendentes no século XVIII. Este porco tipo “gordura” chegou às suas características típicas no último quarto do século XIX sendo que estas ainda se mantêm até hoje. Dado que os porcos Mangalica estavam praticamente extintos após os anos 50’s do século passado também foi reduzida a informação científica e conhecimento prático sobre a raça. Nesta revisão comparamos em detalhe informação antiga e moderna sobre a reprodução dos suínos Mangalica. Descrições antigas relatavam o primeiro cio das marrãs Mangalica aos 10-11 meses de idade. Efetivamente, as fêmeas Mangalica podem ter cios aos 7-8 meses de idade e, portanto, podem ter o seu primeiro parto com 11-12 meses. Há relatos que várias linhas “mãe” tinham ninhadas grandes (8-9 leitões) no início do século XX, no entanto, por causa de diferentes esquemas de seleção essas linhas desapareceram. Afortunadamente, hoje podemos identificar novamente essas porcas mais prolíficas. Através da comparação do conhecimento antigo e atual da biologia reprodutiva da Mangalica devemos concluir que a incorporação do conhecimento antigo válido tem a mesma importância que os novos dados obtidos com metodologias e instrumentos mais sofisticados. A sua síntese é necessária para a preservação do valor genético original e para a produção orientada para o mercado