Search results for: multiple rare variants

Authors: Rofida Gamal, Mostafa Mohammed, Mariam Adel, Marwa Gamal, Marwa kamal, Ayat Saber, Maha Mamdouh, Amira Emad, Mai Ramadan

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Lynch Syndrome is an inherited genetic condition associated with an increased risk of colorectal and other cancers. Detecting Lynch Syndrome in individuals is crucial for early intervention and preventive measures. This study proposes a computational pipeline for Lynch Syndrome detection by integrating alignment, variant calling, and annotation. The pipeline leverages popular tools such as FastQC, Trimmomatic, BWA, bcftools, and ANNOVAR to process the input FASTQ file, perform quality trimming, align reads to the reference genome, call variants, and annotate them. It is believed that the computational pipeline was applied to a dataset of Lynch Syndrome cases, and its performance was evaluated. It is believed that the quality check step ensured the integrity of the sequencing data, while the trimming process is thought to have removed low-quality bases and adaptors. In the alignment step, it is believed that the reads were accurately mapped to the reference genome, and the subsequent variant calling step is believed to have identified potential genetic variants. The annotation step is believed to have provided functional insights into the detected variants, including their effects on known Lynch Syndrome-associated genes. The results obtained from the pipeline revealed Lynch Syndrome-related positions in the genome, providing valuable information for further investigation and clinical decision-making. The pipeline's effectiveness was demonstrated through its ability to streamline the analysis workflow and identify potential genetic markers associated with Lynch Syndrome. It is believed that the computational pipeline presents a comprehensive and efficient approach to Lynch Syndrome detection, contributing to early diagnosis and intervention. The modularity and flexibility of the pipeline are believed to enable customization and adaptation to various datasets and research settings. Further optimization and validation are believed to be necessary to enhance performance and applicability across diverse populations.

Keywords: Lynch Syndrome, computational pipeline, alignment, variant calling, annotation, genetic markers

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Authors: S. Pooja Pragati, B. Sudarsan, S. Raj Kumar

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This paper provides a practical design of a new concept of massive Induced Drag reductions of stream vise staggered multiple winglets. It is designed to provide an optimum performance of a winglet from conventional designs. In preparing for a mechanical design, aspects such as shape, dimensions are analyzed to yield a huge amount of reduction in fuel consumption and increased performance. Owing to its simplicity of application and effectiveness we believe that it will enable us to consider its enhanced version for the grid effect of the staggered multiple winglets on the deflected mass flow of the wing system. The objective of the analysis were to compare the aerodynamic characteristics of two winglet configuration and to investigate the performance of two winglets shape simulated at selected cant angle of 0,45,60 degree.

Keywords: multiple winglets, induced drag, aerodynamics analysis, low speed aircrafts

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Authors: Helga Martins, Idália Matias

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Background:Multiple sclerosis is a chronic inflammatory autoimmune demyelinating disease that affects young adults. Multiple sclerosis is a chronic disease in which the patient needs to self-manage the disease and the therapeutic regimen. Consequently, the promotion of health literacy assumes a relevant role for the accessibility, understanding, and use of information in order to promote and maintain the health of patients with multiple sclerosis. Aim: To determine the impact of lower health literacy in the self-management of patients with a multiple sclerosis. Methods: Literature review based on a search on the following electronic databases: CINAHLand MEDLINE; comprising all results published between September 2016 and September 2021. The search strategy was: (“Self-management [MeSH]” AND “Multiple sclerosis[MeSH]”AND “Health literacy[MeSH]”). The inclusion criteria were: original papers reporting about multiple sclerosis patients; participants with age above 18 years old, written in English, Spanish, French, or Portuguese. Two independent reviewers have done the screening and analysis of the results. 38 citations were identified, and after duplicates removal, a total of 25 results were screened; 14 were included after the application of the inclusion criteria. Results: The lower health literacy in the self-management of patients with a multiple sclerosis is related toless healthy choices, riskier health behavior, poor health outcomes, decreased of adhering to the therapeutic regimen after discharge, less self-management of chronic illness, and increased the time of hospitalization. Conclusion: Inadequate levels of health literacy contribute to poor health outcomes, unsuccessful self-management of chronic illness, and inadequate adherence to the therapeutic regimen. Therefore, health literacy is important for health policy and the healthcare services, as it can be understood as a mediator of self-management of multiple sclerosis disease.

Keywords: health literacy, multiple sclerosis, review, self-management

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Authors: Shumaila Shakoor

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C. tubulosa is a rare parasitic plant. It is found to be endangered and it acquires nutrition by penetrating roots deep in host roots. It has momentous potential to fulfill local and national health needs. This specie became endangered due to its parasitic mode of life and lack of awareness. Investigation of distribution and habitat conditions of C. tubulosa from District Pakpattan is the objective of this study. To explore its habitat conditions and community ecology phytosociological survey of C. tubulosa in different habitats i.e roadsides and graveyards was carried out. It was found that C. tubulosa occurs successfully in different habitats like graveyards and roadsides with specific neighboring species. Soil analysis was carried out by taking soil samples from seven sites. Soil was analyzed for pH, EC, soil texture, OM, N %age, Ca, Mg, P and K, which shows that soil of C. tubulosa is rich in all these nutrients.

Keywords: organic matter, potassium, phosphorus, magnesium

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Authors: Sarah Bouayyad, Ajay Nigam, Meera Beena

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Acquired benign tracheoesophageal fistula is a rare medical condition that usually results from trauma, foreign bodies, or granulomatous infections. This is an unusual presentation of a male patient with a history of laryngectomy who had had over a period of several years inappropriately and vigorously used valve cleaning brushes to clean tracheal secretions, which had led to the formation of a tracheoesophageal fistula. Due to the patient’s obsessive habit, we couldn’t manage him using conventional surgical methods. Instead, we opted for the placement of a salivary bypass tube, which yielded good results and recovery. To the best of our knowledge, no other case of similar etiology has been published. We would like to highlight the importance of appropriate patient selection and education prior to performing a tracheoesophageal puncture to avoid developing life-threatening complications as demonstrated in our case report.

Keywords: tracheoesophageal fistula, speech valve, endoscopic insertion of salivary bypass tube, head and neck malignancies

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Authors: Christy M. Moen, Richard B. Townsley

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Introduction: Metastasis to the frontal bone in thyroid cancer is extremely rare. A literature review found only six cases of thyroid cancer that metastasised to the frontal bone, with two of those involving further bone sites. Case Report: The patient was originally referred to the Oral and Maxillofacial Surgery team with an isolated mass on her forehead. Biopsies were performed, which showed this was likely a metastatic deposit from thyroid cancer. CT-PET scan showed this was an isolated lesion. The patient had a total thyroidectomy, and the forehead lesion was managed with radiotherapy. On interval scanning, the patient’s bony lesion had increased in size and had new lung nodules, which likely represented further metastasis. Conclusion: Isolated bony metastases to the frontal bone are rare. An important clinical principle to remember is that a bony metastasis from an unknown primary is more likely than primary bone cancer.

Keywords: cancer, thyroid, head and neck, surgery

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Authors: Muhammad Nouman Qureshi, Muhammad Hanif

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Adaptive cluster sampling (ACS) is specifically developed for the estimation of highly clumped populations and applied to a wide range of situations like animals of rare and endangered species, uneven minerals, HIV patients and drug users. In this paper, we proposed a generalized semi-exponential estimator with two auxiliary variables under the framework of ACS design. The expressions of approximate bias and mean square error (MSE) of the proposed estimator are derived. Theoretical comparisons of the proposed estimator have been made with existing estimators. A numerical study is conducted on real and artificial populations to demonstrate and compare the efficiencies of the proposed estimator. The results indicate that the proposed generalized semi-exponential estimator performed considerably better than all the adaptive and non-adaptive estimators considered in this paper.

Keywords: auxiliary information, adaptive cluster sampling, clustered populations, Hansen-Hurwitz estimation

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Authors: Naresh Kumar, Radhika Sharma, A. K. Singh

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Acid plutonic rocks from the Khanak and Devsar areas of southwestern Haryana were investigated to understand their geochemical and petrogenetic characteristics and tectonic environments. Three dominant rock types (grey, grayish green and pink granites) are the principal geochemical features of Khanak and Devsar areas which reflect the dependencies of their composition on varied geological environment during the anorogenic magmatism. These rocks are enriched in SiO₂, Na₂O+K₂O, Fe/Mg, Rb, Zr, Y, Th, U, REE (Rare Earth Elements) enriched and depleted in MgO, CaO, Sr, P, Ti, Ni, Cr, V and Eu and exhibit a clear affinity to the within-plate granites that were emplaced in an extensional tectonic environment. Chondrite-normalized REE patterns show enriched LREE (Light Rare Earth Elements), moderate to strong negative Eu anomalies and flat heavy REE and grey and grayish green is different from pink granite which is enriched by Rb, Ga, Nb, Th, U, Y and HREE (Heavy Rare Earth Elements) concentrations. The composition of parental magma of both areas corresponds to mafic source contaminated with crustal materials. Petrogenetic modelling suggest that the acid plutonic rocks might have been generated from a basaltic source by partial melting (15-25%) leaving a residue with 35% plagioclase, 25% alkali feldspar, 25% quartz, 7% orthopyroxene, 5% biotite and 3% hornblende. Granites from both areas might be formed from different sources with different degree of melting for grey, grayish green and pink granites.

Keywords: A-type granite, anorogenic, Malani igneous suite, Khanak and Devsar

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Authors: Jenee Gooden, Kevin Vasquez-monterroso, Lady Paula Dejesus, Sandra Wainwright, Daniel Kim, Mackenzie Walker

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Introduction: Pyoderma gangrenosum (PG) is a rare, rapidly progressive, neutrophilic ulcerative colitis condition with an incidence of 3 to 10 cases per year ¹ ². Due to the similar appearance, PG is often misdiagnosed as a diabetic ulcer in diabetic patients. Though they may clinically appear similar in appearance, the treatment protocol and diagnostic criteria differ. Also, end-stage renal disease (ESRD) is often a condition seen in diabetic patients, which can have a significant impact on wound healing due to the wide range of uremic toxins³. This case study demonstrates a multidisciplinary team and multimodal treatment approach by podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine for an uncontrolled diabetic with pyoderma gangrenosum of a significant circumferential wound, covering almost the entire right lower extremity. Methods:56 y.o male presents with multiple PG ulcerations, including the chest, right posterior lower extremity and sacrum. All ulcerations were previously managed by the same wound care specialist. His chief complaint was worsening PG ulcerations accompanied by a fever of 103 °F . This case study focuses on the wound to his RLE. Past medical history significant for diabetes mellitus type 2 with hemoglobin A1c of 10% and end stage renal disease (ESRD) on hemodialysis. A multidisciplinary team approach by podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine was successfully used to perform right lower extremity limb salvage. The patient was managed by rheumatology for the continuation of prior medication, as well as the mutual agreement with wound care for the addition of dapsone. A coronary CT angiogram was performed by interventional cardiology, but no significant disease was noted, and no further vascular workup was necessary. Multiple surgical sharp wide excisional debridements with application of allografts and split thickness skin grafts for the circumferential ulceration that encompassed almost the entire right lower extremity were performed by both podiatric surgery and general surgery. Wound cultures and soft tissue biopsies were performed, and infectious disease managed antibiotic therapy. Hyperbaric oxygen therapy and wound vac therapy by wound care were also completed as adjunct management. Results: Prevention of leg amputation by limb salvage of the RLE was accomplished by a multidisciplinary team approach, with the wound size decreasing over a total of 29 weeks from 600 cm² to 12.0 x 3.5 x 0.2 cm. Our multidisciplinary team included podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine. Discussion: Wound healing, in general, can have its challenges, and those challenges are only magnified when accompanied by multiple systemic illnesses. Though the negative impact of diabetes on wound healing is well known, the compound impact of being a diabetic with ESRD and having pyoderma gangrenosum is not. This case demonstrates the necessity for a multidisciplinary team approach with a wide array of treatment modalities to optimize wound healing and perform limb salvage with prevention of lower extremity amputation.

Keywords: diabetes, podiatry, pyoderma gangrenosum, end stage renal disease

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Authors: Lars Rödel, Jonas Krebs, Gregor Müller

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The growing price pressure due to the increasing number of global suppliers, the growing individualization of products and ever-shorter delivery times are upcoming challenges in the industry. In this context, Mass Personalization stands for the individualized production of customer products in batch size 1 at the price of standardized products. The possibilities of digitalization and automation of technical order processing open up the opportunity for companies to significantly reduce their cost of complexity and lead times and thus enhance their competitiveness. Many companies already use a range of CAx tools and configuration solutions today. Often, the expert knowledge of employees is hidden in "knowledge silos" and is rarely networked across processes. DesignChain describes the automated digital process from the recording of individual customer requirements, through design and technical preparation, to production. Configurators offer the possibility of mapping variant-rich products within the Design Chain. This transformation of customer requirements into product features makes it possible to generate even complex CAD models, such as those for large-scale plants, on a rule-based basis. With the aid of an automated CAx chain, production-relevant documents are thus transferred digitally to production. This process, which can be fully automated, allows variants to always be generated on the basis of current version statuses.

Keywords: automation, design, CAD, CAx

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Authors: Fatima Babar, Majid I. Khan, Malik Najmus Saqib, Muhammad Tahir

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This article provides range based improvements over a well-known single-hop range free localization scheme, Approximate Point in Triangulation (APIT) by proposing an energy efficient Barycentric coordinate based Point-In-Triangulation (PIT) test along with PIT based trilateration. These improvements result in energy efficiency, reduced localization error and improved localization coverage compared to APIT and its variants. Moreover, we propose to embed Received signal strength indication (RSSI) based distance estimation in DV-Hop which is a multi-hop localization scheme. The proposed localization algorithm achieves energy efficiency and reduced localization error compared to DV-Hop and its available improvements. Furthermore, a hybrid multi-hop localization scheme is also proposed that utilize Barycentric coordinate based PIT test and both range based (Received signal strength indicator) and range free (hop count) techniques for distance estimation. Our experimental results provide evidence that proposed hybrid multi-hop localization scheme results in two to five times reduction in the localization error compare to DV-Hop and its variants, at reduced energy requirements.

Keywords: Localization, Trilateration, Triangulation, Wireless Sensor Networks

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Authors: Christine Li, Amanda Robertson

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Epidermal inclusion cysts occur when epidermal cells are implanted in the dermis following trauma, or surgery. They are a rare cause of an umbilical mass, with very few cases previously reported following abdominal surgery. These lesions can present with a range of symptoms, including palpable mass, pain, redness, or discharge. This paper reports a case of an umbilical epidermal inclusion cyst in a 52-year-old female presenting with a six-week history of a painful, red umbilical lump on a background of two previous diagnostic laparoscopies. Abdominal computed tomography (CT) scans revealed non-specific soft tissue thickening in the umbilical region. This was successfully treated with complete excision of the lesion. Umbilical lumps are a common presentation but can represent a diagnostic challenge. The differential diagnosis should include an epidermal inclusion cyst, particularly in a patient who has had previous abdominal surgery, including laparoscopic surgery.

Keywords: epidermal inclusion cyst, laparoscopy, umbilical mass, umbilicus

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Authors: Shivani Kuttuva, Bridget Fergie, Andrew Mishreki, Shovkat Mir, Fintan Bergin

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Diaphragm disease (DD) of the small bowel is a condition wherein the bowel lumen is divided into a series of short compartments by multiple circumferential membranes of mucosa and submucosa, leading to pinhole lumen and subsequent obstruction. It is a rare condition commonly attributed to non-steroidal anti-inflammatory drugs (NSAIDs) usage. Herein we present a 31-yr-old-female with a history of NSAIDs usage for one year following neurosurgery, who presented with recurrent idiopathic small bowel obstruction, recalcitrant anaemia, and impaction of capsule endoscope on investigating for anaemia. The capsule endoscopy images demonstrated multiple circumferential strictures with ulcers at its tip and villous atrophy in the proximal bowel, suggestive of NSAIDs related damage. However, due to the lack of awareness of the detrimental effects of NSAIDs on bowel mucosa distal to the duodenum, the underlying aetiology of this clinical presentation remained a mystery for a significant duration. The patient had to undergo repeated laparotomies in order to relieve the symptoms of recurring acute small bowel obstruction. Upon examining the resected specimen under microscopy, the histopathological hallmark of expanded, fibrotic, and congested submucosa was picked up, leading to the confirmation of diaphragm disease. Thus, this case report aims to widen the awareness among clinicians and aid surgeons in devising a management plan for young individuals presenting with recurring episodes of obstruction due to Diaphragm disease.

Keywords: capsule endoscopy, diaphragm disease, NSAIDs, recurrent small bowel obstruction

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Authors: Weizhi Zhong, Xiaoyi Lu, Lei Xu

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In order to solve the problem of inaccurate synchronization for distributed multiple-input multiple-output (MIMO) system in multipath environment, a golay pair aided timing synchronization method is proposed in this paper. A new synchronous training sequence based on golay pair is designed. By utilizing the aperiodic auto-correlation complementary property of the new training sequence, the fine timing point is obtained at the receiver. Simulation results show that, compared with the tradition timing synchronization approaches, the proposed algorithm can provide high accuracy in synchronization, especially under multipath condition.

Keywords: distributed MIMO system, golay pair, multipath, synchronization

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Authors: Christopher Leung, Assad Zahid

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Mesenteric vasculitis can often mimic abdominal sepsis in a postoperative setting leading to a predicament where steroids could improve mesenteric vasculitis whilst worsening abdominal sepsis. Here this study presents a unique and rare case of perforated sigmoid diverticulitis secondary to systemic vasculitis. A 68-year-old gentleman presented with perforated sigmoid diverticulitis requiring an emergency Hartmann’s procedure. Early in his postoperative course, he had painful and asymmetrical neuropathy that, after a careful history and examination, revealed a patient with mono neuritis multiplex on a background history of longstanding rheumatoid arthritis. On day seven of his postoperative course, he had rising inflammatory markers and a CT abdomen and pelvis showing fluid around the mesentery. Whilst contamination from sigmoid perforation was somewhat congruent with these signs, a diagnosis of polyarteritis nodosa, a common cause of mononeuritis multiplex, is also possible, although involvement of the large bowel in polyarteritis nodosa is extremely rare. The histopathology from the initial Hartmann’s procedure was re-examined, showing medium vessel disease vasculitis. Given his lack of fevers, absence of abdominal pain, and worsening neurology, he was given a provisional diagnosis of polyarteritis nodosa and was treated successfully, not on IV antibiotics but on steroids. Large bowel involvement of polyarteritis nodosa is extremely rare and this is the first case of polyarteritis nodosa causing perforated diverticulitis. The learning point here is to obtain a good clinical picture of a patient to identify mesenteric vasculitis as compared to abdominal sepsis as the treatment of one worsens the other.

Keywords: abdominal sepsis, diverticulitis, mesenteric vasculitis, polyarteritis nodosa

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Authors: Sandra Smieszek, Jonathan Haines

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Introduction: Numerous research efforts have focused on searching for ‘longevity genes’. However, attempting to decipher the genetic component of the longevous phenotype have resulted in limited success and the mechanisms governing longevity remain to be explained. We conducted a genome-wide homozygosity analysis (GWHA) of the founder population of the Amish community in central Ohio. While genome-wide association studies using unrelated individuals have revealed many interesting longevity associated variants, these variants are typically of small effect and cannot explain the observed patterns of heritability for this complex trait. The Amish provide a large cohort of extended kinships allowing for in depth analysis via family-based approach excellent population due to its. Heritability of longevity increases with age with significant genetic contribution being seen in individuals living beyond 60 years of age. In our present analysis we show that the heritability of longevity is estimated to be increasing with age particularly on the paternal side. Methods: The present analysis integrated both phenotypic and genotypic data and led to the discovery of a series of variants, distinct for stratified populations across ages and distinct for paternal and maternal cohorts. Specifically 5437 subjects were analyzed and a subset of 893 successfully genotyped individuals was used to assess CHIP heritability. We have conducted the homozygosity analysis to examine if homozygosity is associated with increased risk of living beyond 90. We analyzed AMISH cohort genotyped for 614,957 SNPs. Results: We delineated 10 significant regions of homozygosity (ROH) specific for the age group of interest (>90). Of particular interest was ROH on chromosome 13, P < 0.0001. The lead SNPs rs7318486 and rs9645914 point to COL4A2 and our lead SNP. COL25A1 encodes one of the six subunits of type IV collagen, the C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. COL4A2 mutations have been reported with a broader spectrum of cerebrovascular, renal, ophthalmological, cardiac, and muscular abnormalities. The second region of interest points to IRS2. Furthermore we built a classifier using the obtained SNPs from the significant ROH region with 0.945 AUC giving ability to discriminate between those living beyond to 90 years of age and beyond. Conclusion: In conclusion our results suggest that a history of longevity does indeed contribute to increasing the odds of individual longevity. Preliminary results are consistent with conjecture that heritability of longevity is substantial when we start looking at oldest fifth and smaller percentiles of survival specifically in males. We will validate all the candidate variants in independent cohorts of centenarians, to test whether they are robustly associated with human longevity. The identified regions of interest via ROH analysis could be of profound importance for the understanding of genetic underpinnings of longevity.

Keywords: regions of homozygosity, longevity, SNP, Amish

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Authors: Diwei Lin, Amanda Jh. Tan

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We present a very rare case of de novo large cell neuroendocrine carcinoma of the prostate (LCNEC) in an 84-year-old male on a background of high-grade, muscle-invasive transitional cell carcinoma of the bladder. While NE tumours account for 1% to 5% of all cases of prostate cancer and scattered NE cells can be found in 10% to 100% of prostate adenocarcinomas, pure LCNEC of the prostate is extremely rare. Most LCNEC of the prostate is thought to originate by clonal progression under the selection pressure of therapy and refractory to long-term hormonal treatment for adenocarcinoma of the prostate. De novo LCNEC is only described in case reports and is thought to develop via direct malignant transformation. Limited data in the English literature makes it difficult to accurately predict the prognosis of LCNEC of the prostate. However, current evidence suggesting that increasing NE differentiation in prostate adenocarcinoma is associated with a higher stage, high-grade disease, and a worse prognosis.

Keywords: large cell neuroendocrine cancer, prostate cancer, refractory cancer, medical and health sciences

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Authors: Krasimir Ivanov, Tonyo Tonev, Nguyen Nguyen, Alexander Peltekov, Anyo Mitkov

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Maize is among the most economically important crops and at the same time one of the most sensitive to soil deficiency in zinc. In this paper, the impact of the foliar zinc application in the form of zinc hydroxy nitrate suspension on the micro and macro elements partitioning in maize leaves and grain was studied during spring maize season, 2017. The impact of the foliar zinc fertilization on the grain yield and quality was estimated too. The experiment was performed by the randomized block design with 8 variants in 3 replications. Seven suspension solutions whit different Zn concentration were used, including ZnO suspension and zinc hydroxyl nitrate alone or nixed with other nutrients. Fertilization and irrigation were the same for all variants. The Zn content and the content of selected micro (Cu, Fe) and macro (Ca, Mg, P and K) elements in maize leaves were determined two weeks after the first spraying (5-6 sheets), two weeks after the second spraying (9-10 sheets) and after harvesting. It was concluded that the synthesized zinc hydroxy nitrate demonstrates potential as the long-term foliar fertilizer. A significant (p < 0.05) effect of zinc accumulation in maize leaves by foliar zinc application during the first growth stage was found, followed by its reutilization to other plants organs during the second growth stage. Significant export of Cu, P, and K from lower and middle leaves was observed. The content of Ca and Mg remains constant in the whole longevity period, while the content of Fe decreases sharply.

Keywords: foliar fertilization, zinc hydroxy nitrate, maize, zinc

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Authors: Parthasarathi Pramanik

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Paediatric blunt abdominal trauma associated with superficial bruise, hematoma, or laceration and internal organ damage secondary to bicycle handlebar is widely documented in the literature. In this article, we have presented a case of bicycle handlebar inflicted fatal neck laceration in a road accident. The deceased sustained a horizontally placed laceration injury over the front and both sides of the middle third of neck (13 cm x 5-8 cm x 2-3.5 cm).The margins of the wound were irregular and focally abraded. The right corner of the injury was pointed whereas the left one was ended with a skin flap. Multiple graze abrasions, contusions and lacerations were found on different parts of body. Autopsy findings and other circumstantial evidences revealed that the victim died due to exsanguination because of severance of carotid artery and jugular vein of both sides. Analysis of the wound suggests the decease sustained the wound by the revolving bicycle handle bar while he had lost the balance.

Keywords: bicycle handle bar, neck injury, lacerated injury, road acident

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Authors: Simon B. N. Thompson

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Retinoblastoma is a rare type of childhood genetic cancer that affects children worldwide. The diagnosis is often missed due to lack of education and difficulty in presentation of the tumor. Frequently, the tumor on the retina is noticed by photography when the red-eye flash, commonly seen in normal eyes, is not produced. Instead, a yellow or white colored patch is seen or the child has a noticeable strabismus. Early detection can be life-saving though often results in removal of the affected eye. Remaining functioning in the healthy eye when the child is young has resulted in super-vision and high or above-average intelligence. Technological advancement of cameras has helped in early detection. Brain imaging has also made possible early detection of neurological diseases and, together with the monitoring of cortisol levels and yawning frequency, promises to be the next new early diagnostic tool for the detection of neurological diseases where cortisol insufficiency is particularly salient, such as multiple sclerosis and Cushing’s disease.

Keywords: cortisol, neurological disease, retinoblastoma, Thompson cortisol hypothesis, yawning

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Authors: Bualak Naksongkaew

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The purposes of this study were to compare pre- and post-test achievement of Thai language skills. The samples consisted of 40 tenth grader of Secondary Demonstration School of Suan Sunandha Rajabhat University in the first semester of the academic year 2010. The researcher prepared the Thai lesson plans, the pre- and post-achievement test at the end program. Data analyses were carried out using means, standard deviations and descriptive statistics, independent samples t-test analysis for comparison pre- and post-test. The study showed that there were a statistically significant difference at α= 0.05; therefore the use multiple intelligences theory can develop Thai languages skills. The results after using the multiple intelligences theory for Thai lessons had higher level than standard.

Keywords: multiple intelligences theory, Thai language skills, development, pre- and post-test achievement

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Authors: Ana Beltran Sanahuja, A. Valdés García, Saray Lopez De Pablo Gallego, Maria Soledad Prats Moya

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Tomato consumption has greatly increased worldwide in the last few years, mostly due to a growing demand for products like sofrito. In this sense, regular consumption of tomato-based products has been consistently associated with a reduction in the incidence of chronic degenerative diseases. The sofrito is a homemade tomato sauce typical of the Mediterranean area, which contains as main ingredients: tomato, onion, garlic and olive oil. There are also sofrito’s variations by adding other spices which bring at the same time not only color, flavor, smell and or aroma; they also provide medicinal properties, due to their antioxidant power. This protective effect has mainly been attributed to the predominant bioactive compounds present in sofrito, such as lycopene and other carotenoids as well as more than 40 different polyphenols. Regarding the cooking process, it is known that it can modify the properties and the availability of nutrients in sofrito; however, there is not enough information regarding this issue. For this reason, the aim of the present work is to evaluate the cooking effect on the antioxidant capacity of different variants of tomato-based sofrito combined with other spices, through the analysis of total phenols content (TPC) and to evaluate the antioxidant capacity by using the method of free radical 2,2-diphenyl-1-picrylhydrazyl (DPPH). Based on the results obtained, it can be confirmed that the basic sofrito composed of tomato, onion, garlic and olive oil and the sofrito with 1 g of rosemary added, are the ones with the highest content of phenols presenting greater antioxidant power than other industrial sofrito, and that of other variables of sofrito with added thyme or higher amounts of garlic. Moreover, it has been observed that in the elaboration of the tomato-based sofrito, it is possible to cook until 60 minutes, since the cooking process increases the bioavailability of the carotenoids when breaking the cell walls, which weakens the binding forces between the carotenoids and increases the levels of antioxidants present, confirmed both with the TPC and DPPH methods. It can be concluded that the cooking process of different variants of tomato-based sofrito, including spices, can improve the antioxidant capacity. The synergistic effects of different antioxidants may have a greater protective effect; increasing, also, the digestibility of proteins. In addition, the antioxidants help to deactivate the free radicals of diseases such as atherosclerosis, aging, immune suppression, cancer, and diabetes.

Keywords: antioxidants, cooking process, phenols sofrito

Procedia PDF Downloads 123

Authors: Yelin Zhao, Xinxiu Li, Martin Smelik, Oleg Sysoev, Firoj Mahmud, Dina Mansour Aly, Mikael Benson

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Background: Early diagnosis of pancreatic cancer is clinically challenging due to vague, or no symptoms, and lack of biomarkers. Polygenic risk score (PRS) scores may provide a valuable tool to assess increased or decreased risk of PC. This study aimed to develop such PRS by filtering genetic variants identified by GWAS using transcriptional programs identified by single-cell RNA sequencing (scRNA-seq). Methods: ScRNA-seq data from 24 pancreatic ductal adenocarcinoma (PDAC) tumor samples and 11 normal pancreases were analyzed to identify differentially expressed genes (DEGs) in in tumor and microenvironment cell types compared to healthy tissues. Pathway analysis showed that the DEGs were enriched for hundreds of significant pathways. These were clustered into 40 “programs” based on gene similarity, using the Jaccard index. Published genetic variants associated with PDAC were mapped to each program to generate program PRSs (pPRSs). These pPRSs, along with five previously published PRSs (PGS000083, PGS000725, PGS000663, PGS000159, and PGS002264), were evaluated in a European-origin population from the UK Biobank, consisting of 1,310 PDAC participants and 407,473 non-pancreatic cancer participants. Stepwise Cox regression analysis was performed to determine associations between pPRSs with the development of PC, with adjustments of sex and principal components of genetic ancestry. Results: The PDAC genetic variants were mapped to 23 programs and were used to generate pPRSs for these programs. Four distinct pPRSs (P1, P6, P11, and P16) and two published PRSs (PGS000663 and PGS002264) were significantly associated with an increased risk of developing PC. Among these, P6 exhibited the greatest hazard ratio (adjusted HR[95% CI] = 1.67[1.14-2.45], p = 0.008). In contrast, P10 and P4 were associated with lower risk of developing PC (adjusted HR[95% CI] = 0.58[0.42-0.81], p = 0.001, and adjusted HR[95% CI] = 0.75[0.59-0.96], p = 0.019). By comparison, two of the five published PRS exhibited an association with PDAC onset with HR (PGS000663: adjusted HR[95% CI] = 1.24[1.14-1.35], p < 0.001 and PGS002264: adjusted HR[95% CI] = 1.14[1.07-1.22], p < 0.001). Conclusion: Compared to published PRSs, scRNA-seq-based pPRSs may be used not only to assess increased but also decreased risk of PDAC.

Keywords: cox regression, pancreatic cancer, polygenic risk score, scRNA-seq, UK biobank

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Authors: Sheikha Turki Alketbi

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Objectives: 1. Documenting the spontaneous resolution of AML following the initiation of anti-TB therapy. 2. Presenting an uncommon type of relapse in Acute Myeloid Leukemia. 3. Highlighting the role of immune markers in the diagnosis of Leukemia cutis. 4. Exploring and highlighting the possibility of skin relapse as the exclusive manifestation, even when skin involvement is known secondary manifestation in AML. Background: Spontaneous remission of Acute Myeloid Leukemia (AML) is a rare phenomenon that has only been reported in some case reports, usually following severe infections. Some studies have described the occurrence of tuberculosis (TB) infection with AML, usually after starting chemotherapy. Spontaneous resolution of AML after starting anti TB therapy (ATT), without starting chemotherapy has never been described in the literature. Moreover, Leukemia cutis is another rare skin manifestation of Acute Myeloid Leukemia as a result of infiltration of the skin or subcutaneous tissue by leukemic cells, in which can present during, precedes, after or independently of systemic leukemia. Methods: Here, we present a case of a 13-year-old male who presented with fever, weight loss, lethargy, epistaxis, bruising and dry cough and was later diagnosed with AML. Before initiating leukemia treatment, the patient was tested for TB and was found to have active TB infection. His leukemia treatment was postponed to clear the TB infection and he was commenced on ATT. Two months later, repeat blood film and bone marrow biopsy showed resolution of his AML. The patient remained in remission for 1 month, after which he presented with symmetrical blue purple well-defined round indurated plaques on the chest and thighs. Our differentials were leukemia cutis and Kaposi sarcoma. Results: Skin Biopsy with immune markers done, showed a picture of Acute Myeloid Leukemia. Immunohistochemistry (IHC) showed neoplastic cells diffusely and strongly positive for LCA, CD2, CD31, MPO, CD117, Lysozymes and TDT, and moderately positive for CD34, CD99, CD43 and CD6 And patchy for CD68. Ki67 showed 60% proliferation index. They were negative for the remaining markers. This suggested acute myeloid leukemia (AML). Conclusion: In summary, we present a rare case of TB with AML that resolved after treatment of TB with ATT but relapsed later as leukemia cutis. While skin involvement might occur as a secondary manifestation of AML, Skin relapse could be the only one.

Keywords: Leukemia cutis, Leukemia relapse, Acute Myeloid Leukemia, spontaneous resolution of AML

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Authors: Ninel Kokanyan, Edvard Kokanyan, Anush Movsesyan, Marc D. Fontana

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Lithium Niobate (LN) is one of the widely used ferroelectrics having a wide number of applications such as phase-conjugation, holographic storage, frequency doubling, SAW sensors. Furthermore, the possibility of doping with rare-earth ions leads to new laser applications. Ho and Tm dopants seem interesting due to laser emission obtained at around 2 µm. Raman spectroscopy is a powerful spectroscopic technique providing a possibility to obtain a number of information about physicochemical and also optical properties of a given material. Polarized Raman measurements were carried out on Ho and Tm doped LN crystals with excitation wavelengths of 532nm and 785nm. In obtained Raman anti-Stokes spectra, we detect expected modes according to Raman selection rules. In contrast, Raman Stokes spectra are significantly different compared to what is expected by selection rules. Additional forbidden lines are detected. These lines have quite high intensity and are well defined. Moreover, the intensity of mentioned additional lines increases with an increase of Ho or Tm concentrations in the crystal. These additional lines are attributed to emission lines reflecting the photoluminescence spectra of these crystals. It means that in our case we were able to detect, within a very good resolution, in the same Stokes spectrum, the transitions between the electronic states, and the vibrational states as well. The analysis of these data is reported as a function of Ho and Tm content, for different polarizations and wavelengths, of the incident laser beam. Results also highlight additional information about π and σ polarizations of crystals under study.

Keywords: lithium niobate, Raman spectroscopy, luminescence, rare-earth ions doped lithium niobate

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Authors: Mohamed Sharof Mostafa, Atefeh Ahmadi

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Most of traditional single modality psychotherapy and counselling approaches to clients’ problems are based on the application of one therapy in all sessions. Modern developments in these sciences focus on eclectic and integrative interventions to consider all dimensions of an issue and all characteristics of the clients. This paper presents and overview eclectic therapy and its pros and cons. In addition, multiple intelligence theory and its application in eclectic therapy approaches are mentioned.

Keywords: eclectic therapy, client, multiple intelligence theory, dimensions

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Authors: John Yahng, Riteesh Bookun

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Popliteal artery aneurysms (PAAs) are the most common arterial aneurysm of the periphery. It is defined as focal dilation of the artery more than 50% of the normal vessel diameter which usually varies between 7 mm to 11 mm. The most common presentation for PAAs is claudication due to luminal stenmosis secondary to mural thrombus or acute limb ischaemia due to occlusive thrombosis or distal thromboembolism. It is less common for patients to present with non-ischaemic symptoms secondary to mass effect and compression of adjacent structures, and of these, presentation with common peroneal nerve compression is particularly uncommon. We present a rare case of a 92-year-old female patient presenting with 4-month history of left foot drop with radiological evidence of common peroneal nerve compression secondary to PAA of 22 mm by21mm in size. To the best of our knowledge, this is the smallest reported popliteal aneurysm presenting with foot drop. We also present the endovascular treatment option taken in our case.

Keywords: aneurysm, foot drop, peroneal nerve, popliteal

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Authors: Eman G. Alayad, Mazen G. Aleyad, Mohammed Alshahrani, Ibrahim Alnaami

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Introduction: Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease that can occur at any age. Patients with CVT commonly present with headache, focal neurological deficit, decreased level of consciousness and seizures. Many etiologic risk factors have been reported for CVT, high altitude and oral contraceptive pill some of them. Case Presentation: A 37-year-old woman living in Abha city in the southeastern area of Saudi Arabia. (about 10,000 feet-3000 m) over the sea. complaining acute onset of severe diffuse headache and generalized tonic clonic convulsions. Followed by loss of consciousness. She was on contraceptive pills for the last 3 years. No significant Medical or surgical history. Brain CT revealed subarachnoid hemorrhage, with MRI findings showing thrombosis in transvers sinus. There was no vascular malformations such as aneurysm, arteriovenous malformation (AVM), or dural arteriovenous fistula. A CVT with subarachnoid hemorrhage was our final diagnosis based on clinical presentation and radiographic findings. Discussion: Patients with CVT had evidence of cortical SAH by 10 of 233, others found 3% of SAH was caused by CVT, indicating that the presence of cortical SAH without involvement of the basal cisterns may provide an early sign of underlying CVT. However, what is more interesting in this case, is the relationship of high altitude with CVT and SAH, which previously undescribed. Conclusion: High-altitude climbing per se was described as a risk factor for the development of CVT, though its occurrence was probably rare. Whether it is primary in etiology due to high altitude induced hypercoagulable state of unknown origin or due to cerebrovascular disturbances there is a need for further investigation especially at this unusual presentation of subarachnoid hemorrhage.

Keywords: cerebral venous thrombosis, high-altitude, subarachnoid hemorrhage, stroke

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Authors: Tamer Mokhtar Mohamed Ahmed

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The metalwork industry during the Mamluk period received the attention and care of the sultans and princes, thus helping in the prosperity of this industry during this period. We are fortunate that a huge number of metal artifacts from the industry of Egypt and Syria of this period have come down to us, many of which are preserved in Egyptian and international museums as well as private collections. Characterized by great diversity in its forms, sizes and functions, including the decorative designs executed on them, the artifacts reflected the extent of artistic creativity that characterized the arts in the two Mamluk period. This research paper aims to study three copper dishes from the Mamluk Circassian period and the rare documentary texts on them that have not been previously studied. These dishes date back to different decades from the 9th AH/15 AD century. One of them bears the name of Sultan Al-Muayyad Shaikh, and the second is the name of one of the great Mamluk princes in the Mamluk Circassian period, Prince Yashbak min Mahdi. The third dish is attributed to Prince Jan Balat Al-Ashrafie.

Keywords: metalwork, dishes, decorative, calligraphy, Mamluk Arts

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Authors: A. Kherraf, M. Bouziane, L. Azzouzi, R. Habbal

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Introduction: Hypocalcaemia is a rare cause of heart failure. We report the clinical case of a young patient with reversible dilated cardiomyopathy secondary to hypocalcaemia in the context of hyperparathyroidism. Clinical case: We report the clinical case of a 23-year-old patient with a history of thyroidectomy for papillary thyroid carcinoma 3 years previously, who presented to the emergency room with a progressive onset dyspnea and edema of the lower limbs. Clinical examination showed hypotension at 90/70 mmHg, tachycardia at 102 bpm, and edema of the lower limbs. The ECG showed a regular sinus rhythm with a prolonged corrected QT interval to 520ms. The chest x-ray showed cardiomegaly. Echocardiography revealed dilated cardiomyopathy with biventricular dysfunction and a left ventricular ejection fraction of 45%, as well as moderate mitral insufficiency by restriction of the posterior mitral leaflet, moderate tricuspid insufficiency, and a dilated inferior vena cava with a pulmonary arterial pressure estimated at 46 mmHg. Blood tests revealed severe hypocalcemia at 38 mg / l with normal albumin and thyroxine levels, as well as hyperphosphatemia and increased TSH. The patient received calcium intake and vitamin D supplementation and was treated with beta blockers, ACE inhibitors, and diuretics with good progress and progressive normalization of cardiac function. Discussion: The cardiovascular manifestations of hypocalcaemia usually appear with deeply low serum calcium levels. This can lead to hypotension, arrhythmias, ventricular fibrillation, prolonged QT interval, or even heart failure. Heart failure is a rare and serious complication of hypocalcemia but most often characterized by complete normalization of myocardial function after treatment. The etiology of the hypocalcaemia, in this case, was probably related to accidental parathyroid removal during thyroidectomy. This is why careful monitoring of calcium levels is recommended after surgery. Conclusion: Hypocalcemic heart failure is rare but reversible heart disease. Systematic monitoring of serum calcium should be performed in all patients after thyroid surgery to avoid any complications related to hypoparathyroidism.

Keywords: hypocalcemia, heart failure, thyroid surgery, hypoparathyroidism

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