Search results for: multiple rare variants

Authors: Mahboobeh Sadeghi, Zahra Izadi Khah, Mansour Hakim Javadi, Masoud Gholamali Lavasani

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Background: Since there is a relation between psychological and physiological factors, the aim of this study was to examine the effect of Emotion Regulation training on cognitive emotion regulation problem in patients with Multiple Sclerosis(MS) Method: In a randomized clinical trial thirty patients diagnosed with Multiple Sclerosis referred to state welfare organization were selected. The sample group was randomized into either an experimental group or a nonintervention control group. The subjects participated in 75-minute treatment sessions held three times a week for 4weeks (12 sessions). All 30 individuals were administered with Cognitive Emotion Regulation questionnaire (CERQ). Participants completed the questionnaire in pretest and post-test. Data obtained from the questionnaire was analyzed using Mancova. Results: Emotion Regulation significantly decreased the Cognitive Emotion Regulation problems patients with Multiple sclerosis (p < 0.001). Conclusions: Emotion Regulation can be used for the treatment of cognitive-emotion regulation problem in Multiple sclerosis.

Keywords: Multiple Sclerosis, cognitive-emotion regulation, emotion regulation, MS

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Authors: Hechmi Saidi, Noureddine Hamdi

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The performance of Decode and Forward (DF) multihop Free Space Optical ( FSO) scheme deploying Multiple Input Multiple Output (MIMO) configuration under Gamma-Gamma (GG) statistical distribution, that adopts M-ary Pulse Position Modulation (MPPM) coding, is investigated. We have extracted exact and estimated values of Symbol-Error Rates (SERs) respectively. A closed form formula related to the Probability Density Function (PDF) is expressed for our designed system. Thanks to the use of DF multihop MIMO FSO configuration and MPPM signaling, atmospheric turbulence is combatted; hence the transmitted signal quality is improved.

Keywords: free space optical, multiple input multiple output, M-ary pulse position modulation, multihop, decode and forward, symbol error rate, gamma-gamma channel

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Authors: Freda Halim

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Endometriosis in bowel is rare condition, about 3-37% of endometriosis cases. Most of bowel endometriosis rising in the rectosigmoid (90% of bowel endometriosis). The incidence of caecal endometriosis is very low ( < 5% of bowel endometriosis) and almost never causing acute small bowel obstruction. The aim of this paper is to show that although bowel obstruction caused by caecal endometriosis is difficult to diagnose as it is rare, and may require laparotomy to make definite diagnosis, but it should be considered in infertile female patient. The case is 37 years old woman infertile woman with intestinal obstruction with pre-operative diagnosis total acute small bowel obstruction caused by right colonic mass, with sepsis as the complication. Before the acute small bowel obstruction, she complained of chronic right lower quadrant pain with chronic constipation alternate with chronic diarrhea, symptoms that happened both in bowel endometriosis and colorectal malignancy. She also complained of chronic pelvic pain and dysmenorrhea. She was married for 10 years with no child. The patient was never diagnosed with endometriosis and never seek medical attention for infertility and the chronic pelvic pain. The patient underwent Abdominal CT Scan, with results: massive small bowel obstruction, and caecal mass that causing acute small bowel obstruction. Diagnosis of acute small bowel obstruction due to right colonic mass was made, and exploratory laparotomy was performed in the patient. During the laparotomy, mass at caecum and ileocaecal that causing massive small bowel obstruction was found and standard right hemicolectomy and temporary ileostomy were performed. The pathology examination showed ectopic endometriosis lesions in caecum and ileocaecal valve. The histopathology also confirmed with the immunohistochemistry, in which positive ER, PR, CD 10 and CD7 was found the ileocaecal and caecal mass. In the second operation, reanastomosis of the ileum was done 3 months after the first operation. The chronic pelvic pain is decreasing dramatically after the first and second operation. In conclusion, although bowel obstruction caused by caecal endometriosis is a rare cause of intestinal obstruction, but it can be considered as a cause in infertile female patient

Keywords: acute, bowel obstruction, caecum, endometriosis

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Authors: Karissa Graham, Andrew Campbell-Lloyd

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The deep inferior epigastric artery perforator flap (DIEP) is used to reconstruct large volumes of tissue. The DIEP flap is based on the deep inferior epigastric artery (DIEA) and vein. Accurate knowledge of the anatomy of these vessels allows for efficient dissection of the flap, minimal damage to surrounding tissue, and a well vascularized flap. A 54 year old lady was assessed for bilateral delayed autologous reconstruction with DIEP free flaps. The right DIEA was consistent with the described anatomy. The left DIEA had a vessel branching shortly after leaving the external iliac artery and before entering the muscle. This independent branch entered the muscle and had a long intramuscular course to the largest perforator. The main DIEA vessel demonstrated a type II branching pattern but had perforators that were too small to have a viable DIEP flap. There were no communicating arterial branches between the independent vessel and DIEA, however, there was one venous communication between them. A muscle sparing transverse rectus abdominis muscle flap was raised using the main periumbilical perforator from the independent vessel. Our case report demonstrated an unreported anatomical variant of the DIEA. A few anatomical variants have been described in the literature, including a unilateral absent DIEA and peritoneal-cutaneous perforators that had no connection to the DIEA. Doing a pre-operative CTA helps to identify these rare anatomical variations, which leads to safer, more efficient, and effective operating.

Keywords: aberrant anatomy, CT angiography, DIEP anatomy, free flap

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Authors: William Chung

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This paper is to study the use of multiple subproblems in Dantzig-Wolfe decomposition of linear programming (DW-LP). Traditionally, the decomposed LP consists of one LP master problem and one LP subproblem. The master problem and the subproblem is solved alternatively by exchanging the dual prices of the master problem and the proposals of the subproblem until the LP is solved. It is well known that convergence is slow with a long tail of near-optimal solutions (asymptotic convergence). Hence, the performance of DW-LP highly depends upon the number of decomposition steps. If the decomposition steps can be greatly reduced, the performance of DW-LP can be improved significantly. To reduce the number of decomposition steps, one of the methods is to increase the number of proposals from the subproblem to the master problem. To do so, we propose to add a quadratic approximation function to the LP subproblem in order to develop a set of approximate-LP subproblems (multiple subproblems). Consequently, in each decomposition step, multiple subproblems are solved for providing multiple proposals to the master problem. The number of decomposition steps can be reduced greatly. Note that each approximate-LP subproblem is nonlinear programming, and solving the LP subproblem must faster than solving the nonlinear multiple subproblems. Hence, using multiple subproblems in DW-LP is the tradeoff between the number of approximate-LP subproblems being formed and the decomposition steps. In this paper, we derive the corresponding algorithms and provide some simple computational results. Some properties of the resulting algorithms are also given.

Keywords: approximate subproblem, Dantzig-Wolfe decomposition, large-scale models, multiple subproblems

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Authors: Jian-Ping Yu, Wen-Xiu Ma, Yong-Li Sun, Chaudry Masood Khalique

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In this paper, a 2d Toda equation is studied, which is a classical integrable system and plays a vital role in mathematics, physics and other areas. New lump-type solution is constructed by using the Hirota bilinear method. One interesting feature of this research is that this lump-type solutions possesses two types of multiple-lump-type waves, which are one- and two-lump-type waves. Moreover, the corresponding 3d plots, density plots and contour plots are given to show the dynamical features of the obtained multiple-lump-type solutions.

Keywords: 2d Toda equation, Hirota bilinear method, Lump-type solution, multiple-lump-type solution

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Authors: Aftab Ahmed, Ghulam Mehboob

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The object of presentation is to highlight the importance of condition which is a very rare genetic disorder although Paget’s disease is common but its juvenile type is very rare and a late presentation due to very slow onset and lack of earlier standard management. We present a case of 25 years old male with a chronic history of bone pain and a slow onset of mild swelling, later on diagnosed as juvenile Paget disease of bone. Rarity of this condition with inaccessibility for standard health treatment can lead to a significant delay in presentation and its management. There have been 50 reported cases worldwide according to Genetic Home Reference. There is increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very significant which lead children to become immobilize.

Keywords: juvenile, Paget’s disease, bone, Northern Area of Pakistan

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Authors: Jutharat Attawet, Alex Y. Wang, Cindy M. Farquhar, Elizabeth A. Sullivan

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Background: Adverse maternal and perinatal outcomes of multiple pregnancies resulting from multiple embryo transfers (ET) has become significant concerns. This is particularly relevant for gestational carriers since they usually do not have infertility issues. Single embryo transfer (SET) therefore has been encouraged to assist reproductive technology (ART) practice in order to reduce multiple pregnancies. Objectives: This systematic review aims to investigate the pregnancy and birth outcomes of SET and multiple ET in surrogacy arrangements. Search methods: This study is a systematic review. Electronic databases were searched from CINAHL, Medline, Embase, Scopus and ProQuest for studies from 1980 to 2017. Cross-references and national ART reports were also manual searchings. Articles without restriction of English language and study types were accessed. Carrier cycles involving in SET and multiple ET were identified in database searching. The main outcome measures including clinical pregnancy, live delivery and multiple deliveries per gestational carrier cycle were compared between SET and multiple ET. Mantel-Haenzel risk ratios (RRs) with 95% confidence intervals (CIs), using the numbers of outcome events in SET and multiple ET of each study were calculated suing RevMan5.3. Outcomes: The search returned 97 articles of which 5 met the inclusion criteria. Approximately 50% of carrier cycles were transferred a single embryo and 50% were transferred more than one embryo. The clinical pregnancy rate (CPR) was 39% for SET and 53% for multiple ET, which was not significantly different with RR = 0.83 (95% CI: 0.67-1.03). The live delivery rate was 33% for SET and 57% for multiple ET which was not significantly different with RR = 0.78 (95% CI: 0.61-1.00). The multiple delivery rate per carrier was greater risks in the multiple ET carrier cycles (RR =0.4, 95% CI: 0.01-0.26). There were 104 sets of twins (including one set of twins selectively reduced from triplets to twins) and 1 set of triples in the multiple ET carrier cycle. In the SET carrier cycles, there were 2 sets of twins. Significance of the study: SET should be advocated among surrogate carriers to prevent multiple pregnancies and subsequent adverse outcomes for both carrier and baby. Surrogacy practice should be reviewed and surrogate carriers should be fully informed of the risk of adverse maternal and birth outcome of multiple pregnancies due to multiple embryo transfers.

Keywords: assisted reproduction, birth outcomes, carrier, gestational surrogacy, multiple embryo transfer, multiple pregnancy, pregnancy outcomes, single embryo transfer, surrogate mother, systematic review

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Authors: Seema Vaidya

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Mining association rule is a key issue in data mining. In any case, the standard models ignore the distinction among the exchanges, and the weighted association rule mining does not transform on databases with just binary attributes. This paper proposes a novel continuous example and executes a tree (FP-tree) structure, which is an increased prefix-tree structure for securing compacted, discriminating data about examples, and makes a fit FP-tree-based mining system, FP enhanced capacity algorithm is used, for mining the complete game plan of examples by illustration incessant development. Here, this paper handles the motivation behind making remarkable and weighted item sets, i.e. rare weighted item set mining issue. The two novel brightness measures are proposed for figuring the infrequent weighted item set mining issue. Also, the algorithm are handled which perform IWI which is more insignificant IWI mining. Moreover we utilized the rare item set for choice based structure. The general issue of the start of reliable definite rules is troublesome for the grounds that hypothetically no inciting technique with no other person can promise the rightness of influenced theories. In this way, this framework expects the disorder with the uncommon signs. Usage study demonstrates that proposed algorithm upgrades the structure which is successful and versatile for mining both long and short diagnostics rules. Structure upgrades aftereffects of foreseeing rare diseases of patient.

Keywords: association rule, data mining, IWI mining, infrequent item set, frequent pattern growth

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Authors: Aadil Khan, Yasser Chomayil, P. P. Venugopalan

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Background: Budd-Chiari syndrome is caused by thrombosis of the hepatic veins and/or the thrombosis of the intrahepatic or suprahepatic IVC. The etiology remains idiopathic in 16% -35% of cases. Malignancy, rheumatological disorder, myeloproliferative disease, inheritable coagulopathy, infection or hyperestrogen state can be identified in many cases. Methodology: Review of case records of the patient presented to Aster Medcity, Emergency Department, Cochin. Introduction:17 years old female was presented to ED with fever, jaundice and abdominal distention since 1 week. O/E: Pallor+, icterus+. Abdomen- gross distension+, shifting dullness+, generalized anasarca+. USG abdomen showed hepatomegaly with mild coarse echotexture and moderate to gross ascites. CT abdomen and chest showed hepatomegaly with thrombosis of all three hepatic vein and moderate ascites suggestive of Budd-Chiari syndrome. Patient was taken for catheter vein thrombolysis. Venogram done the next day revealed almost > 50% opening of the right hepatic vein. Concurrent doppler showed colour and doppler signals in middle hepatic veins. She gradually improved and was discharged home on anticoagulant and adviced regular follow up. Conclusion: Being a rare disease in this young population, high suspicion is required when evaluating young patients with abdominal pain and jaundice.

Keywords: Budd-Chiari syndrome, rare disease, abdominal pain, India

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Authors: Muhammad Fiaz, Muhammad Saqlain, Bernard M. Y. Cheung, S. M. Saqlan Naqvi, Ghazala Kaukab Raja

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Background: Association of C allele of rs662799 SNP of APOA5 gene with metabolic syndrome (MetS) has been reported in different populations around the world. A case control study was conducted to explore the relationship of rs662799 variants (T/C) with the MetS and the associated risk phenotypes in a population of Pakistani origin. Methods: MetS was defined according to the IDF criteria. Blood samples were collected from the Pakistan Institute of Medical Sciences, Islamabad, Pakistan for biochemical profiling and DNA extraction. Genotyping of rs662799 was performed using mass ARRAY, iPEX Gold technology. A total of 712 unrelated case and control subjects were genotyped. Data were analyzed using Plink software and SPSS 16.0. Results: The risk allele C of rs662799 showed highly significant association with MetS (OR=1.5, Ρ=0.002). Among risk phenotypes, dyslipidemia, and obesity showed strong association with SNP (OR=1.49, p=0.03; OR =1.46, p=0.01) respectively in models adjusted for age and gender. Conclusion: The rs662799C allele is a significant risk marker for MetS in the local Pakistani population studied. The effect of the SNP is more on dyslipidemia than the other components of the MetS.

Keywords: metabolic syndrome, APOA5, rs662799, dyslipidemia, obesity

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Authors: Hazha Hidayat, Shayma Ibrahim

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Folate metabolism plays a crucial role in the normal development of the neonatal central nervous system. It is regulated by MTHFR gene polymorphism. Any factors, which will affect this metabolism either by hereditary or gene mutation will lead to many mental disorders. The purpose of this study was to investigate whether MTHFR gene mutation contributes to the development of mental retardation and CP combined with mental retardation in Erbil city. DNA was isolated from the peripheral blood samples of 40 cases suffering from mental retardation (MR) and CP combined with MR were recruited, sequence the 4, 6, 7, 8 exons of the MTHFR gene were done to identify the variants. Exons were amplified by PCR technique and then sequenced according to Sanger method to show the differences with MTHFR reference sequences. We observed (14) mutations in 4, 6, 7, 8 exons in the MTHFR gene associated with Cerebral Palsy combined with mental retardation included deletion, insertion, Substitution. The current study provides additional evidence that multiple variations in the MTHFR gene are associated with mental retardation and Cerebral Palsy.

Keywords: methylenetetrahydrofolate reductase (MTHFR) gene, SNPs, homocysteine, sequencing

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Authors: N. Pitcheswara Rao

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In the process of conveying the information there may be a chance of signal being corrupted which leads to the erroneous bits in the message. The message may consist of single, double and multiple bit errors. In high-reliability applications, memory can sustain multiple soft errors due to single or multiple event upsets caused by environmental factors. The traditional hamming code with SEC-DED capability cannot be address these types of errors. It is possible to use powerful non-binary BCH code such as Reed-Solomon code to address multiple errors. However, it could take at least a couple dozen cycles of latency to complete first correction and run at a relatively slow speed. In order to overcome this drawback i.e., to increase speed and latency we are using reed-Muller code.

Keywords: SEC-DED, BCH code, Reed-Solomon code, Reed-Muller code

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Authors: Gabriel Hunduma

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Asymptomatic intra-thoracic neurogenic tumours are rare. Tumours arising from the intercostal nerves of the chest wall are exceedingly rare. This paper reports an incidental discovery of a neurogenic intercostal tumour while being investigated for Coronavirus Disease 2019 (COVID-19). A 54-year-old female underwent a thoracotomy and resection for an intercostal tumour. Pre-operative images showed an intrathoracic mass, and the biopsy revealed a schwannoma. The most common presenting symptom recorded in literature is chest pain; however, our case remained asymptomatic despite the size of the mass and thoracic area it occupied. After an extensive search of the literature, COVID-19 was found to have an influence on the development of certain cells in breast cancer. Hence there is a possibility that COVID-19 played a role in progressing the development of the schwannoma cells.

Keywords: thoracic surgery, intercostal schwannoma, chest wall oncology, COVID-19

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Authors: Michelangelo Liban, Debbie Liquete

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A 70-year-old right-handed Filipina was seen by the Neurology service due to a new onset headache, bi-occipital in location, dull squeezing in character with a pain score of 8/10 with associated nausea and one episode of non-projectile, which provided no relief. Due to the alarming features of the headache despite the absence of risk factors and an essentially normal neurologic examination, a cranial CTA+CTV was done, which revealed a small left frontal and small right pontine hyper density with minimal perilesional edema. Findings also revealed filling defects in the straight and right transverse sinus and a consideration of hypoplastic left transverse sinus with no definite evidence of aneurysm nor A-V malformation. She had normal levels of D-Dimer, Protein C, ANA and Anti-DS DNA but had a low Protein S of 56% (N.V is 70-120%). Antithrombin, homocysteine and Factor V Leiden were not done due to unavailability of the tests. She was then treated as a case of Cerebral Venous Thrombosis with multiple hemorrhage from venous infraction and was given anticoagulants which provided relief of the headache. She did not manifest with any further cortical, bulbar or sensorimotor deficits hence was discharged improved after 15 hospital days. To our knowledge, there are no case reports of patients with CVT from Protein S deficiency and venous anomaly that presented with multiple hemorrhage from venous infarction, more so affecting the brainstem. In this paper, a rare location of CVT in a newly diagnosed Protein S deficient patient is presented together with an uneventful course and favorable outcome.

Keywords: protein S deficiency, cerebral venous thrombosis, pontine hemorrhage from venous infarction, elderly

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Authors: Osman Adiguzel

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Shape memory effect is a peculiar property exhibited by certain alloy systems and based on martensitic transformation, and shape memory properties are closely related to the microstructures of the material. Shape memory effect is linked with martensitic transformation, which is a solid state phase transformation and occurs with the cooperative movement of atoms by means of lattice invariant shears on cooling from high-temperature parent phase. Lattice twinning and detwinning can be considered as elementary processes activated during the transformation. Thermally induced martensite occurs as martensite variants, in self-accommodating manner and consists of lattice twins. Also, this martensite is called the twinned martensite or multivariant martensite. Deformation of shape memory alloys in martensitic state proceeds through a martensite variant reorientation. The martensite variants turn into the reoriented single variants with deformation, and the reorientation process has great importance for the shape memory behavior. Copper based alloys exhibit this property in metastable β- phase region, which has DO3 –type ordered lattice in ternary case at high temperature, and these structures martensiticaly turn into the layered complex structures with lattice twinning mechanism, on cooling from high temperature parent phase region. The twinning occurs as martensite variants with lattice invariant shears in two opposite directions, <110 > -type directions on the {110}- type plane of austenite matrix. Lattice invariant shear is not uniform in copper based ternary alloys and gives rise to the formation of unusual layered structures, like 3R, 9R, or 18R depending on the stacking sequences on the close-packed planes of the ordered lattice. The unit cell and periodicity are completed through 18 atomic layers in case of 18R-structure. On the other hand, the deformed material recovers the original shape on heating above the austenite finish temperature. Meanwhile, the material returns to the twinned martensite structures (thermally induced martensite structure) in one way (irreversible) shape memory effect on cooling below the martensite finish temperature, whereas the material returns to the detwinned martensite structure (deformed martensite) in two-way (reversible) shape memory effect. Shortly one can say that the microstructural mechanisms, responsible for the shape memory effect are the twinning and detwinning processes as well as martensitic transformation. In the present contribution, x-ray diffraction, transmission electron microscopy (TEM) and differential scanning calorimetry (DSC) studies were carried out on two copper-based ternary alloys, CuZnAl, and CuAlMn.

Keywords: shape memory effect, martensitic transformation, twinning and detwinning, layered structures

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Authors: Pitcheswara Rao Nelapati

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In the process of conveying the information there may be a chance of signal being corrupted which leads to the erroneous bits in the message. The message may consist of single, double and multiple bit errors. In high-reliability applications, memory can sustain multiple soft errors due to single or multiple event upsets caused by environmental factors. The traditional hamming code with SEC-DED capability cannot be address these types of errors. It is possible to use powerful non-binary BCH code such as Reed-Solomon code to address multiple errors. However, it could take at least a couple dozen cycles of latency to complete first correction and run at a relatively slow speed. In order to overcome this drawback i.e., to increase speed and latency we are using reed-Muller code.

Keywords: SEC-DED, BCH code, Reed-Solomon code, Reed-Muller code

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Authors: Maria Cristina B. Cabanag, Elijinese Marie S. Culangen

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Pregnancy is a period in a woman's life wherein the body may undergo different physiological changes. These changes can be attributed to the interplay of hormones in the body but can mask a more sinister type of disease such as malignancy on rare occasions. Colorectal cancer (CRC) in pregnancy is an epidemiologically rare disease worldwide. To our knowledge, no available studies were reported in the Philippines at the time of this writing, posing a dilemma for its appropriate diagnosis and management. Signs and symptoms of colorectal malignancy may camouflage a normal pregnancy and, when overlooked, impedes an appropriate approach. This case of a 38-year-old elderly primigravid who presented with hematochezia on her 25th week of gestation. She was diagnosed with rectal adenocarcinoma later in pregnancy which warranted a predicament regarding her appropriate care and management. This paper explores the repertoire of the different diagnostic and treatment approaches to colorectal cancer in the second trimester of pregnancy, with the least possible maternal and fetal hazards.

Keywords: cancer in pregnancy, chemotherapy in pregnancy, colorectal cancer, hematochezia in pregnancy

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Authors: Ujala, Diksha Sharma, Mahinder Partap, Ashish R. Warghat, Bhavya Bhargava

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In soil-less agriculture, hydroponic is considered a potential farming system for the production of uniform quality plant material in significantly less time. Therefore, for the first time, the current investigation corroborates the effect of different cultivation conditions (open-field, poly-house, and hydroponic) on morpho-physiological traits, phenolic content, and essential oil components analysis in three flower color variants (yellow, scarlet red, and orange) of Tagetes patula. The results revealed that the maximum plant height, number of secondary branches, number of flowers, photosynthesis, stomatal conductance, and transpiration rate were observed under the hydroponic system as compared to other conditions. However, the maximum content of gallic acid (0.82 mg/g DW), syringic acid (3.98 mg/g DW), epicatechin (0.48 mg/g DW), p-coumaric acid (7.28 mg/g DW), protocatechuic acid (0.59 mg/g DW), ferulic acid (2.58 mg/g DW), and luteolin (8.24 mg/g DW) were quantified maximally under open-field conditions. However, under hydroponic conditions, the higher content of vanillic acid (0.43 mg/g DW), caffeic acid (0.49 mg/g DW), and quercetin (0.92 mg/g DW) were quantified. Moreover, a total of nineteen volatile components were identified in the essential oil of different flower color variants of T. patula cultivated under different conditions. The major reported volatile components in essential oil were (-)-caryophyllene oxide, trans-β-caryophyllene, trans-geraniol, 3 methyl-benzyl alcohol, and 2,2’:5’,2”-terthiophene. It has also been observed that the volatile component percentage range in all variants was observed in open-field (70.85 % to 90.54 %), poly-house (59.03 % to 77.93 %), and hydroponic (68.78 % to 89.41 %). In conclusion, the research highlighted that morpho-physiological performance with flower production was enhanced in the hydroponic system. However, phenolic content and volatile components were maximally observed in open-field conditions. However, significant results have been reported under hydroponic conditions in all studied parameters, so it could be a potential strategy for quality biomass production in T. patula.

Keywords: Tagetes patula, cultivation conditions, hydroponic, morpho-physiology

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Authors: Sadaf Moeez, Madiha Khalid, Zoya Khalid, Sania Shaheen, Sumbul Khalid

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Background: Inter-individual variation in response to metformin, which has been considered as a first line therapy for T2DM treatment is considerable. In the current study, it was aimed to investigate the impact of two genetic variants Leu125Phe (rs77474263) and Gly64Asp (rs77630697) in gene SLC47A1 on the clinical efficacy of metformin in T2DM Pakistani patients. Methods: The study included 800 T2DM patients (400 metformin responders and 400 metformin non-responders) along with 400 ethnically matched healthy individuals. The genotypes were determined by allele-specific polymerase chain reaction. In-silico analysis was done to confirm the effect of the two SNPs on the structure of genes. Association was statistically determined using SPSS software. Results: Minor allele frequency for rs77474263 and rs77630697 was 0.13 and 0.12. For SLC47A1 rs77474263 the homozygotes of one mutant allele ‘T’ (CT) of rs77474263 variant were fewer in metformin responders than metformin non-responders (29.2% vs. 35.5 %). Likewise, the efficacy was further reduced (7.2% vs. 4.0 %) in homozygotes of two copies of ‘T’ allele (TT). Remarkably, T2DM cases with two copies of allele ‘C’ (CC) had 2.11 times more probability to respond towards metformin monotherapy. For SLC47A1 rs77630697 the homozygotes of one mutant allele ‘A’ (GA) of rs77630697 variant were fewer in metformin responders than metformin non-responders (33.5% vs. 43.0 %). Likewise, the efficacy was further reduced (8.5% vs. 4.5%) in homozygotes of two copies of ‘A’ allele (AA). Remarkably, T2DM cases with two copies of allele ‘G’ (GG) had 2.41 times more probability to respond towards metformin monotherapy. In-silico analysis revealed that these two variants affect the structure and stability of their corresponding proteins. Conclusion: The present data suggest that SLC47A1 Leu125Phe (rs77474263) and Gly64Asp (rs77630697) polymorphisms were associated with the therapeutic response of metformin in T2DM patients of Pakistan.

Keywords: diabetes, T2DM, SLC47A1, Pakistan, polymorphism

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Authors: Sudheer Moorkoth, Leslie Edward Lewis, Pragna Rao

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Newborn screening (NBS) is a part of routine newborn care in many countries worldwide to detect early any rare treatable conditions and inborn errors of metabolism (IEM). India has not started this program yet. In an attempt to understand the challenges in implementing a national newborn screening program in India, we initiated a pilot newborn screening project funded by the Government of Canada. Along with initiating the newborn screening at Kasturba Hospital, Manipal in South India, for screening six disorders (Congenital Hypothyroidism(CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia, Biotinidase deficiency, Glucose-6-Phosphate Dehydrogenase deficiency (G-6PD) and Phenylketonurea), we also studied the awareness of various stakeholders on the newborn screening. In a period of nine months from August 2017 to March 2018 we could screen 1915 newborns (999 male and 916 female). The result showed that there were seven babies screened positive. This interim result points to an incidence rate of 1 in 270 children for these rare disorders collectively. This includes three confirmed cases of CH, two cases of G-6PD deficiency, and one case each for Galctosemia and CAH. A questionnaire based study to understand the awareness among various stakeholders revealed that there is little awareness among parents, adolescents and anganwadi workers (public health worker). The interim data points to the need for a national newborn screening programme in India. There is also an immediate need to undertake large-scale awareness programme to create knowledge on NBS among the various stakeholders.

Keywords: awareness, inborn errors of metabolism (IEM), newborn screening, rare disease

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Authors: Mohammed A. Abutalib

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Papillary thyroid carcinoma (PTC) accounts for the most common type of thyroid cancer, a well-differentiated type. PTC is featured by biologically low-grade and less aggressive tumors with a survival rate of 10 years in most of the diagnosed cases. PTC can be presented with the involvement of cervical lymph nodes in about 50% of the patients, yet the distant spread is very uncommon. Herein, we discussed an early 50-year-old male patient with a history of PTC that presented to the emergency department complaining of shortness of breath and a radiological finding of hydrothorax. Cytologic examination, together with immune-histochemical staining and molecular studies of pleural effusion aspiration, concluded the definitive diagnosis of metastatic papillary thyroid carcinoma in the pleural space. PTC seldom causes metastatic niches in the pleural space, and this is a rare clinical presentation; nevertheless, a differential diagnosis of thyroid metastasis needs to be excluded.

Keywords: thyroid cancer, malignant pleural effusion, cytology aspiration, papillary thyroid carcinoma

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Authors: Bernadett Henn, Katalin Tálos, Éva Kováss Széles

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During the last 50 years, the worldwide permeation of the nuclear techniques induces several new problems in the environmental and in the human life. Nowadays, due to the increasing of the risk of terrorism worldwide, the potential occurrence of terrorist attacks using also weapon of mass destruction containing radioactive or nuclear materials as e.g. dirty bombs, is a real threat. For instance, the uranium pellets are one of the potential nuclear materials which are suitable for making special weapons. The nuclear forensics mainly focuses on the determination of the origin of the confiscated or found nuclear and other radioactive materials, which could be used for making any radioactive dispersive device. One of the most important signatures in nuclear forensics to find the origin of the material is the determination of the rare earth element patterns (REE) in the seized or found radioactive or nuclear samples. The concentration and the normalized pattern of the REE can be used as an evidence of uranium origin. The REE are the fourteen Lanthanides in addition scandium and yttrium what are mostly found together and really low concentration in uranium pellets. The problems of the REE determination using ICP-MS technique are the uranium matrix (high concentration of uranium) and the interferences among Lanthanides. In this work, our aim was to develop an effective chemical sample preparation process using extraction chromatography for separation the uranium matrix and the rare earth elements from each other following some publications can be found in the literature and modified them. Secondly, our purpose was the optimization of the ICP-MS measuring process for REE concentration. During method development, in the first step, a REE model solution was used in two different types of extraction chromatographic resins (LN® and TRU®) and different acidic media for environmental testing the Lanthanides separation. Uranium matrix was added to the model solution and was proved in the same conditions. Methods were tested and validated using REE UOC (uranium ore concentrate) reference materials. Samples were analyzed by sector field mass spectrometer (ICP-SFMS).

Keywords: extraction chromatography, nuclear forensics, rare earth elements, uranium

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Authors: Wellemans Isabelle, Remmelink Myriam, Foucart Annick, Rusu Stefan, Compère Christophe

Abstract:

Primary pulmonary meningioma (PPM) is a very rare tumor, and its occurrence has been reported only sporadically. Multiple PPMs are even more exceptional, and herein, we report, to the best of our knowledge, the fourth case, focusing on the clinicopathological features of the tumor. Moreover, the possible relationship between the use of progesterone–only contraceptives and the development of these neoplasms will be discussed. Case Report: We report a case of a 51-year-old female presenting three solid pulmonary nodules, with the following localizations: right upper lobe, middle lobe, and left lower lobe, described as incidental findings on computed tomography (CT) during a pre-bariatric surgery check-up. The patient revealed no drinking or smoking history. The physical exam was unremarkable except for the obesity. The lesions ranged in size between 6 and 24 mm and presented as solid nodules with lobulated contours. The largest lesion situated in the middle lobe had mild fluorodeoxyglucose (FDG) uptake on F-18 FDG positron emission tomography (PET)/CT, highly suggestive of primary lung neoplasm. For pathological assessment, video-assisted thoracoscopic middle lobectomy and wedge resection of the right upper nodule was performed. Histological examination revealed relatively well-circumscribed solid proliferation of bland meningothelial cells growing in whorls and lobular nests, presenting intranuclear pseudo-inclusions and psammoma bodies. No signs of anaplasia were observed. The meningothelial cells expressed diffusely Vimentin, focally Progesterone receptors and were negative for epithelial (cytokeratin (CK) AE1/AE3, CK7, CK20, Epithelial Membrane Antigen (EMA)), neuroendocrine markers (Synaptophysin, Chromogranin, CD56) and Estrogenic receptors. The proliferation labelling index Ki-67 was low (<5%). Metastatic meningioma was ruled out by brain and spine magnetic resonance imaging (MRI) scans. The third lesion localized in the left lower lobe was followed-up and resected three years later because of its slow but significant growth (14 mm to 16 mm), alongside two new infra centimetric lesions. Those three lesions showed a morphological and immunohistochemical profile similar to previously resected lesions. The patient was disease-free one year post-last surgery. Discussion: Although PPMs are mostly benign and slow-growing tumors with an excellent prognosis, they do not present specific radiological characteristics, and it is difficult to differentiate it from other lung tumors, histopathologic examination being essential. Aggressive behavior is associated with atypical or anaplastic features (WHO grades II–III) The etiology is still uncertain and different mechanisms have been proposed. A causal connection between sexual hormones and meningothelial proliferation has long been suspected and few studies examining progesterone only contraception and meningioma risk have all suggested an association. In line with this, our patient was treated with Levonorgestrel, a progesterone agonist, intra-uterine device (IUD). Conclusions: PPM, defined by the typical histological and immunohistochemical features of meningioma in the lungs and the absence of central nervous system lesions, is an extremely rare neoplasm, mainly solitary and associating, and indolent growth. Because of the unspecific radiologic findings, it should always be considered in the differential diagnosis of lung neoplasms. Regarding multiple PPM, only three cases are reported in the literature, and this is the first described in a woman treated by a progesterone-only IUD to the best of our knowledge.

Keywords: pulmonary meningioma, multiple meningioma, meningioma, pulmonary nodules

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Authors: Endrick Barnacin, Jean-Luc Henry, Jimmy Nagau, Jack Molinie

Abstract:

Palynology is a field of interest in many disciplines due to its multiple applications: chronological dating, climatology, allergy treatment, and honey characterization. Unfortunately, the analysis of a pollen slide is a complicated and time consuming task that requires the intervention of experts in the field, which are becoming increasingly rare due to economic and social conditions. That is why the need for automation of this task is urgent. A lot of studies have investigated the subject using different standard image processing descriptors and sometimes hand-crafted ones.In this work, we make a comparative study between classical feature extraction methods (Shape, GLCM, LBP, and others) and Deep Learning (CNN, Autoencoders, Transfer Learning) to perform a recognition task over 80 regional pollen species. It has been found that the use of Transfer Learning seems to be more precise than the other approaches

Keywords: pollens identification, features extraction, pollens classification, automated palynology

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Authors: Angelis P. Barlampas

Abstract:

Introduction: The term phantom lung mass describes the ovoid collection of fluid within the interlobular fissure, which initially creates the impression of a mass. The problem of correct differential diagnosis is great, especially in plain radiography. A case is presented with three nodular pulmonary foci, the shape, location, and density of which, as well as the presence of chronic loculated pleural effusions, suggest the presence of multiple phantom tumors of the lung. Purpose: The aim of this paper is to draw the attention of non-experienced and non-specialized physicians to the existence of benign findings that mimic pathological conditions and vice versa. The careful study of a radiological examination and the comparison with previous exams or further control protect against quick wrong conclusions. Methods: A hospitalized patient underwent a non-contrast CT scan of the chest as part of the general control of her situation. Results: Computed tomography revealed pleural effusions, some of them loculated, increased cardiothoracic index, as well as the presence of three nodular foci, one in the left lung and two in the right with a maximum density of up to 18 Hounsfield units and a mean diameter of approximately five centimeters. Two of them are located in the characteristical anatomical position of the major interlobular fissure. The third one is located in the area of the right lower lobe’s posterior basal part, and it presents the same characteristics as the previous ones and is likely to be a loculated fluid collection, within an auxiliary interlobular fissure or a cyst, in the context of the patient's more general pleural entrapments and loculations. The differential diagnosis of nodular foci based on their imaging characteristics includes the following: a) rare metastatic foci with low density (liposarcoma, mucous tumors of the digestive or genital system, necrotic metastatic foci, metastatic renal cancer, etc.), b) necrotic multiple primary lung tumor locations (squamous epithelial cancer, etc. ), c) hamartomas of the lung, d) fibrotic tumors of the interlobular fissures, e) lipoid pneumonia, f) fluid concentrations within the interlobular fissures, g) lipoma of the lung, h) myelolipomas of the lung. Conclusions: The collection of fluid within the interlobular fissure of the lung can give the false impression of a lung mass, particularly on plain chest radiography. In the case of computed tomography, the ability to measure the density of a lesion, combined with the provided high anatomical details of the location and characteristics of the lesion, can lead relatively easily to the correct diagnosis. In cases of doubt or image artifacts, comparison with previous or subsequent examinations can resolve any disagreements, while in rare cases, intravenous contrast may be necessary.

Keywords: phantom mass, chest CT, pleural effusion, cancer

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Authors: Mohamed A. Ghandourah, Walied M. Alarif, Nahed O. Bawakid

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Halogenated cyclic enynes and terpenoids are commonly identified among secondary metabolites of the genus Laurencia. Laurencian acetogenins are entirly C15 non-terpenoid haloethers with different carbocyclic nuclei; a specimen of the Red Sea red alga L. obtusa was investigated for its acetogenin content. The dichloromethane extract of the air-dried red algal material was fractionated on aluminum oxide column preparative thin-layer chromatography. Three new rare C12 acetogenin derivatives (1-3) were isolated from the organic extract obtained from Laurencia obtusa, collected from the territorial Red Sea water of Saudi Arabia. The structures of the isolated metabolites were established by means of spectroscopical data analyses. Examining the isolated compounds in activated human peripheral blood mononuclear cells (PBMC) revealed potent Anti-inflammatory activity as evidenced by inhibition of NFκB and release of other inflammatory mediators like TNF-α, IL-1β and IL-6.

Keywords: Red Sea, red algae, fatty acids, spectroscopy, anti-inflammatory

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Authors: Pablo Cid Galache, Laura Zamorano Bonilla

Abstract:

Mauriac syndrome (MS) is a rare complication of type 1 diabetes mellitus (DM1). It is rela-ted to low insulin concentrations. Therefore is a complication mainly found in developing countries. The main clinical features are hepatomegaly, edema, growth and puberty delay, and the presence of elevated transaminases and serum lipids. The MS incidence is de-creasing due to the new types of insulin and intensive glycemic control. Therefore is a rare diagnosis in Europe nowadays, being described mainly in developing countries or with so-cioeconomic limitations to guarantee an adequate management of diabetes. Edema secondary to fluid retention is a rare complication of insulin treatment, especially in young patients. Its severity is variable and is mainly related to the start of a proper treatment and the improvement in glycemic control after diagnosis or after periods of poor metabolic control. Edema resolves spontaneously without requiring treatment in most cases. The Pediatric Endocrinology Unit of Hospital Motril could diagnose a 14-year-old girl who presented very poor metabolic control during the last 3 years as a consequence of the socioeconomic conditions of the country of origin during the last years. Presents up to 4 admissions for ketoacidosis during the last 12 months. After the family moved to Spain our patient began to be followed up in our Hospital. Initially presented glycated hemoglobin figures of 11%. One week after the start of treatment, the patient was admitted in the emergency room due to the appearance of generalized edema and pain in the limbs. The main laboratory abnormalities include: blood glucose 225mg/dl; HbA1C 10.8% triglycerides 543 mg/dl, total cholesterol 339 mg/dl (LDL 225) GOT 124 U/l, GPT 89U/l. Abdominal ultrasound shows mild hepatomegaly and no signs of ascites were shown. The patient presented a progressive improvement with resolution of the edema and analitical abnormalities during the next two weeks. During admission, the family received diabetes education, achieving adequate glycemic control at discharge. Nowadays the patient has a good glycemic control having glycated hemoglobin levels around 7%.

Keywords: Mauriac, diabetes, complication, developing countries

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Authors: Sara Mahmood, Omar Ahmed, Youssef Aladham, Moustafa Abdelnaby

Abstract:

The varied complications of COVID-19 present an ongoing challenge to healthcare professionals. A rare presentation of complicated sinusitis with pre-septal cellulitis and hard palatal necrosis in a COVID-19 patient, was reported. A 52-year-old male was admitted to the hospital with typical COVID manifestations where he had two successive COVID-19 positive swabs. During his admission, he developed symptoms of right orbital complications of sinusitis along with both clinical and radiological evidence of ipsilateral hard palatal necrosis. Imaging confirmed a diagnosis of right pan-sinusitis complicated with right pre-septal infection and hard palatal bony defect on the same side. Intra-operatively, the sphenopalatine artery was found to be thrombosed. This case focuses on the possible association between these manifestations and the known thromboembolic complications of COVID-19. Ongoing management of such complicated rare cases should be through a multidisciplinary team.

Keywords: COVID-19, sinusitis, sphenopalatine artery, thrombosis

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Authors: Gopinath Rathod, Vinod Puranik

Abstract:

Sustainability is regarded as a key concept for survival in the competitive scenario. Industrial risk and diversification of risk type’s increases with industrial developments. In the context of sustainable manufacturing, the evaluation of risk is difficult because of the incomplete information and multiple indicators. Fuzzy Multiple Attribute Decision Method (FMADM) has been used with a three level hierarchical decision making model to evaluate aggregate risk for sustainable manufacturing projects. A case study has been presented to reflect the risk characteristics in sustainable manufacturing projects.

Keywords: sustainable manufacturing, decision making, aggregate risk, fuzzy logic, fuzzy multiple attribute decision method

Procedia PDF Downloads 498