380 research outputs found

    Increasing productivity in high speed milling of airframe components using chatter stability diagrams

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    In this study, the application of chatter stability diagrams in industrial operations is presented with representative cases. Challenges arising due to the practical aspects of production systems are discussed in detail. Effects of tool, tool holder, spindle and CNC machine on chatter stability diagrams are presented. The implementation of the stability diagrams under such challenges is presented through real application examples showing significant reduction in machining times

    Havacılık sanayinde süreç optimizasyonu için kararlılık diyagramlarının kullanımı

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    Kararlılık diyagramları tırlama tipi titresimlerin önlenmesi amacıyla kullanılan ve deneme yanılma metotlarına göre çok hızlı sürede en uygun kesme parametrelerinin belirlenmesi için kullanılan araçlardır. Bu çalısmada havacılık sanayinde kararlılık diyagramlarının kullanımı ile ilgili örnekler ve ortaya çıkabilecek problemlere çözüm önerileri sunulmustur. Bilimse tabanlı yöntemler kullanılarak üretilen bir havacılık sanayi parçasında hem titresimler bertaraf edilmis hem de kesme zamanı %45 mertebelerinde azaltılmıstır

    Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

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    Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). To date, mutation screening has been limited to patients with a family history consistent with MODY. In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH). Subjects and methods: We sequenced the ABCC8, KCNJ11, GCK, GLUD1, and/or HNF4A genes in 220 patients with HH responsive to diazoxide. The order of genetic testing was dependent upon the clinical phenotype. Results: A genetic diagnosis was possible for 59/220 (27%) patients. KATP channel mutations were most common (15%) followed by GLUD1 mutations causing hyperinsulinism with hyperammonemia (5.9%), and HNF4A mutations (5%). Seven of the 11 probands with a heterozygous HNF4A mutation did not have a parent affected with diabetes, and four de novo mutations were confirmed. These patients were diagnosed with HI within the first week of life (median age 1 day), and they had increased birth weight (median +2.4 SDS). The duration of diazoxide treatment ranged from 3 months to ongoing at 8 years. Conclusions: In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family history of diabetes, once KATP channel mutations have been excluded

    Use of biochemical and protein profiles of seminal plasma to prediction of semen quality and fertility in stallions

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    The identification of various substances in seminal plasma has opened the way to study their functionality. It was aimed to identify the electrophoretic protein profile (EPP) and biochemical parameters (BP) of seminal plasma (SP) as predictors of semen quality and fertility in stallion. Forty-six ejaculates from 7 fertile stallions, aged between 6-26 years, were collected from May to July and 117 mares were used to obtain fertility data. For each ejaculate, volume, sperm motility, concentration were determined and seminal plasma samples were collected to perform one-dimensional electrophoresis and biochemical profiling. Following the estrus detection, mares were inseminated with fresh sperm. Pregnancy rates and foal rates were recorded. The concentration of 15-18 kDa molecular weight (MW) proteins has shown a positive correlation with sperm concentration and foal rate. Besides, a strong positive correlation was found between sperm concentration and 23-28 kDa MW proteins (r=0.77). The volume of 19-22 kDa MW proteins was negatively correlated with pregnancy and foal rate. Similarly, the volume of high MW proteins (173-385 kDa) correlated negatively with sperm motility and foal rate. Apart from the protein profile, while Magnesium and Glucose levels were negatively correlated with sperm quality and foal rate, Cholesterol level was a positive indicator of the quality of semen as well as the foaling rate. Moreover, the total protein level was correlated negatively with the sperm concentration whereas triglyceride was correlated positively. In conclusion, EPP and BP of seminal plasma are valuable clinical tools as predictors of fertility and semen quality in the stallion.Fil: Stelletta, C.. Università di Padova; ItaliaFil: Alberti, S.. Università di Padova; ItaliaFil: Cil, B.. Ankara University; TurquíaFil: Tekin, K.. Ankara University; TurquíaFil: Tirpan, M. B.. Ankara University; TurquíaFil: Argañaraz, Martin Eduardo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas; ArgentinaFil: Akcay, E.. Ankara University; TurquíaFil: Daskin, A.. Ankara University; Turquí

    Coexistence of carcinoma and tuberculosis in one breast

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    which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Background: The coexistence of breast cancer and tuberculosis is very rare. This can create a dilemma in the diagnosis and treatment as there are no pathognomonic symptoms or signs to distinguish both diseases. Case presentation: A female patient was seen in the breast clinic for a right breast lump. Clinical examination and investigation confirmed cancer and tuberculosis of the right breast. She underwent right mastectomy and axillary clearance and received chemo and radiotherapy. Unfortunately, she died of wide spread metastases. Conclusion: The simultaneous occurrence of these two major illnesses in the breast can lead to many problems regarding diagnosis and treatment. Though rare, surgeons, pathologists and radiologists should be aware of such condition. Background The coexistence of carcinoma and tuberculosis (TB) of the breast and the axillary lymph nodes is rare. The clinical situation

    Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

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    Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc.Next-generation sequencing (NGS) enables analysis of the human genome on a scale previously unachievable by Sanger sequencing. Exome sequencing of the coding regions and conserved splice sites has been very successful in the identification of disease-causing mutations, and targeting of these regions has extended clinical diagnostic testing from analysis of fewer than ten genes per phenotype to more than 100. Noncoding mutations have been less extensively studied despite evidence from mRNA analysis for the existence of deep intronic mutations in >20 genes. We investigated individuals with hyperinsulinaemic hypoglycaemia and biochemical or genetic evidence to suggest noncoding mutations by using NGS to analyze the entire genomic regions of ABCC8 (117 kb) and HADH (94 kb) from overlapping ~10 kb PCR amplicons. Two deep intronic mutations, c.1333-1013A>G in ABCC8 and c.636+471G>T HADH, were identified. Both are predicted to create a cryptic splice donor site and an out-of-frame pseudoexon. Sequence analysis of mRNA from affected individuals' fibroblasts or lymphoblastoid cells confirmed mutant transcripts with pseudoexon inclusion and premature termination codons. Testing of additional individuals showed that these are founder mutations in the Irish and Turkish populations, accounting for 14% of focal hyperinsulinism cases and 32% of subjects with HADH mutations in our cohort. The identification of deep intronic mutations has previously focused on the detection of aberrant mRNA transcripts in a subset of disorders for which RNA is readily obtained from the target tissue or ectopically expressed at sufficient levels. Our approach of using NGS to analyze the entire genomic DNA sequence is applicable to any disease

    Metabolic stress promotes renal tubular inflammation by triggering the unfolded protein response

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    The renal epithelium contributes to the development of inflammation during ischemic injury. Ischemia induces endoplasmic reticulum (ER) stress and activates the unfolded protein response (UPR). Ischemic tissues generate distress signals and inflammation that activates fibrogenesis and may promote adaptive immunity. Interestingly, the UPR may activate inflammation pathways. Our aim was to test whether the UPR is activated during metabolic stress and mediates a tubular inflammatory response. Glucose deprivation, not hypoxia and amino acids deprivation, activated the UPR in human renal cortical tubular cells in culture. This stress activated NF-κB and promoted the transcription of proinflammatory cytokines and chemokines, including IL-6, IL-8, TNF-α, RANTES and MCP-1. The protein kinase RNA (PKR)-like ER kinase signaling pathway was not required for the induction of inflammation but amplified cytokine. Inositol-requiring enzyme 1 activated NF-κB signaling and was required for the transcription of proinflammatory cytokines and chemokines following metabolic stress. Moreover, acute ischemia activated ER stress and inflammation in rat kidneys. Finally, the ER stress marker GRP78 and NF-κB p65/RelA were coexpressed in human kidney transplants biopsies performed before implantation, suggesting that ER stress activates tubular inflammation in human renal allografts. In conclusion, this study establishes a link between ischemic stress, the activation of the UPR and the generation of a tubular inflammatory response

    Cystic appearance of low-grade endometrial stromal sarcoma in the right atrium: case report

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    A 71-year-old woman presented with a right adnexal solid mass invading the right gonadal vein and inferior vena cava up to the hepatic veins revealed by CT and confirmed by MRI. A thin-walled cyst and a solid mass were unexpectedly found in the right atrium by transesophageal echocardiography (TEE) in the operating room. Using color Doppler and air bubbles as contrast material a circumscribed cyst was confirmed and localized close to the IVC. The cyst was connected to the mass in the inferior vena cava. The tumor, including the cyst, was removed without using cardiopulmonary bypass and described as a low-grade endometrial stromal sarcoma, a rare slowly growing tumor. This is the first TEE description of endometrial stromal sarcoma manifesting as a right atrial cyst

    GW190521: A Binary Black Hole Merger with a Total Mass of 150 M

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    © 2020 authors. Published by the American Physical Society. On May 21, 2019 at 03:02:29 UTC Advanced LIGO and Advanced Virgo observed a short duration gravitational-wave signal, GW190521, with a three-detector network signal-to-noise ratio of 14.7, and an estimated false-alarm rate of 1 in 4900 yr using a search sensitive to generic transients. If GW190521 is from a quasicircular binary inspiral, then the detected signal is consistent with the merger of two black holes with masses of 85-14+21 Mm and 66-18+17 Mm (90% credible intervals). We infer that the primary black hole mass lies within the gap produced by (pulsational) pair-instability supernova processes, with only a 0.32% probability of being below 65 Mm. We calculate the mass of the remnant to be 142-16+28 Mm, which can be considered an intermediate mass black hole (IMBH). The luminosity distance of the source is 5.3-2.6+2.4 Gpc, corresponding to a redshift of 0.82-0.34+0.28. The inferred rate of mergers similar to GW190521 is 0.13-0.11+0.30 Gpc-3 yr-1
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