Search results for: rare

Authors: Wu Liching

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Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future.

Keywords: acute stroke, MELAS, lactic acidosis, mitochondrial disorders

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Authors: Abdorrasoul Malekpour, Mohammad Ghorbani Mojtaba Mortazavi, Mohammadreza Fattahi, Mohammad Hassan Meshkibaf, Ali Fakhrzad, Saeid Salehi, Saeideh Zahedi, Amir Ahmadimoghaddam, Parviz Farzadnia Dr., Mohammadreza Hajyani Asl Bs

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Hepatitis B as an infectious disease has eight main genotypes (A–H). The aim of this study is to Bioinformatically identify Rare Codon Clusters (RCC) in proteins structure of HBV. For detection of protein family accession numbers (Pfam) of HBV proteins; used of uni-prot database and Pfam search tool were used. Obtained Pfam IDs were analyzed in Sherlocc program and RCCs in HBV proteins were detected. In further, the structures of TrEMBL entries proteins studied in PDB database and 3D structures of the HBV proteins and locations of RCCs were visualized and studied using Swiss PDB Viewer software. Pfam search tool have found nine significant hits and 0 insignificant hits in 3 frames. Results of Pfams studied in the Sherlocc program show this program not identified RCCs in the external core antigen (PF08290) and truncated HBeAg protein (PF08290). By contrast the RCCs become identified in Hepatitis core antigen (PF00906) Large envelope protein S (PF00695), X protein (PF00739), DNA polymerase (viral) N-terminal domain (PF00242) and Protein P (Pf00336). In HBV genome, seven RCC identified that found in hepatitis core antigen, large envelope protein S and DNA polymerase proteins and proteins structures of TrEMBL entries sequences that reported in Sherlocc program outputs are not complete. Based on situation of RCC in structure of HBV proteins, it suggested those RCCs are important in HBV life cycle. We hoped that this study provide a new and deep perspective in protein research and drug design for treatment of HBV.

Keywords: rare codon clusters, hepatitis B virus, bioinformatic study, infectious disease

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Authors: Adnan I. O. Zaid

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Zinc aluminum alloys are versatile materials which are widely used in manufacturing several parts in the automobile and aircraft industries. The effect of grain refinement of these alloys by rare earth elements on their mechanical characteristics is scarce. The equal channel angular pressing is relatively recent method for producing severe plastic deformation in materials subjected to it resulting in refinement of their structure and enhancement of their mechanical characteristics. The phase diagram of these alloys indicates that large dendrites of large grain size can be formed during their solidification of the cast which tends to deteriorate their mechanical strength and surface quality. To overcome this problem they are normally grain refined by either titanium or titanium + boron to their melt prior to solidification. In this paper, comparison between the effect of adding either titanium, (Ti), titanium+boron, (Ti+B), or Molybdenum, Mo, to zinc-aluminum22, alloy, (ZA22) on its metallurgical and mechanical characteristics in the cast condition and after pressing by the ECAP process is investigated. It was found that addition of either Ti, Ti+B, or Mo to the ZA22 alloy in the cast condition resulted in refining of their structure being more refined by the addition of Mo, then .Ti+B and less refining by Ti addition. Furthermore, the ECAP process resulted in further refinement of the alloy micro structure except in case of Ti+B addition where poisoning i.e. coarsening of the grains has occurred. Regarding the addition of these element on the mechanical behavior; it was found that addition of Ti Or Ti+B resulted in little enhancement of the alloy strength factor and its flow stress at 20% true strain; whereas, the addition of resulted in deteriorating of its mechanical behavior as % decrease in the strength factor and % in its flow stress of 20%. As for the strain hardening index; addition of any of these elements resulted in decreasing the strain hardening index.

Keywords: addition, grain refinement, mechanical characteristics, microstructure, rare earth elements, ZA-22, Zinc- aluminum alloy

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Authors: Mukurdipi Ray, Seema Singh

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Extrauterine endometrial stromal sarcoma (ESS) is a rare entity and typified by delayed recurrence of primary ESS. Here, we present an unusual case of uterine ESS in a woman with a history of hysterectomy. A 19-year-old girl, underwent a hysterectomy and bilateral salpingo-oophorectomy for uterine ESS 12 months ago and now after remaining disease free for nine months ago she presented with ascites along with pelvic and peritoneal mass. Intraoperatively, the large omental mass was found, and optimal cytoreduction with total omentomy (supracolic and infracolic ) total peritonectomy and hyperthermic intraperitoneal chemotherapy (HIPEC) was offered to the patient. Final histopathology report showed the involvement of only omentum by ESS cells. Immunohistochemistry (IHC) and receptor study were done and it was positive for CD-10 and desmin and negative for CK- 7. This case highlights the rarity of extrauterine ESS in the omentum with a known history of primary uterine ESS which was treated successfully with the above-mentioned procedure. Though active and long-term surveillance is recommended to monitor for late recurrences.

Keywords: endrometrial stromal sarcoma, complete cytoreduction, hyperthermic intra peritoneal chemotherapy, total omentectomy

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Authors: Md. Hasan Zahir

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Y2O3-doped silica membranes were synthesized with the sol-gel method by using a tetraethyl orthosilicate-derived sol mixed with yttrium nitrate hexahydrate. These solutions were used to fabricate hydrogen separation microporous membranes with a sandwich-type structure on γ-Al2O3 supported by tubular α-Al2O3. Pore size distribution measurements were conducted directly on the membranes before and after hydrothermal treatment with a nano-permporometer. The gas permeance properties of the membranes were measured in the temperature range 100–500°C. The Y-doped SiO2 membrane (Si/Y = 3/1) was found to exhibit asymptotically stable permeances of 2.39×10-7 mol m-2 s -1 Pa-1 for He and 6.19 ×10-10 mol m-2 s -1 Pa-1 for CO2, with a high selectivity of 386 (He/CO2) at 500°C for 20 h in the presence of steam. The Y-doped silica membranes exhibit very high gas permeances for molecules with smaller kinetic diameters. The apparent activation energies of the H2 permeance at 400°C were 24.2±0.2 and 21.3±0.7 kJ mol−1 for SiO2 and Si/Y, respectively. Very high permeances were obtained for N2 and O2, 2.2 and 5 × 10-8 mol m-2 s -1 Pa-1 respectively, which demonstrates that these materials are promising air purification and/or separation systems that block larger impurity molecules by molecular sieving effects. Y-doped SiO2 exhibits greater hydrothermal stability at high temperatures and higher selectivity than SiO2 membranes.

Keywords: ceramic membrane, gas separation, hydrothermal stability, rare earth doped-Silica

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Authors: Kawalpreet Kalra, Alpana Goel

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The behaviour of the rotational bands should be smooth but due to large amount of inertia and decreased pairing it is not so. Many experiments have been done in the last few decades, and a large amount of data is available for comprehensive study in this region. Peculiar features like signature dependence, signature inversion, and signature reversal are observed in many two quasiparticle rotational bands of doubly odd and doubly even nuclei. At high rotational frequencies, signature and parity are the only two good quantum numbers available to label a state. Signature quantum number is denoted by α. Even-angular momentum states of a rotational band have α =0, and the odd-angular momentum states have α =1. It has been observed that the odd-spin members lie lower in energy up to a certain spin Ic; the normal signature dependence is restored afterwards. This anomalous feature is termed as signature inversion. The systematic of signature inversion in high-j orbitals for doubly odd rare earth nuclei have been done. Many unusual features like signature dependence, signature inversion and signature reversal are observed in rotational bands of even-even/odd-odd nuclei. Attempts have been made to understand these phenomena using several models. These features have been analyzed within the framework of the Two Quasiparticle Plus Rotor Model (TQPRM).

Keywords: rotational bands, signature dependence, signature quantum number, two quasiparticle

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Authors: Jamie Lynn Co, Mary Shiela Ariola-Ramos

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Myroides are aerobic, yellow-pigmented, non-motile, non-fermenting gram-negative rods. They are commonly found in the environment such as water and soil. Although found in the environment, Myroides are rare pathogens of humans. Myroides spp. primarily infect immunocompromised patients, often with diabetes mellitus, liver cirrhosis, chronic kidney disease, chronic obstructive pulmonary disease or prolonged corticosteroid therapy. We present a case of a 70-year-old immunocompromised patient with diabetes mellitus, chronic renal failure, diagnosed with sepsis caused by Myroides spp. The primary portal and source of infection were the pustules and boils found on the lower extremities of the patient. Susceptibility testing showed that our isolate was only susceptible to ciprofloxacin and meropenem; and following the treatment, the patient recovered. Myroides continues to be a rare pathogen of humans that is prevalent in our environment. It primarily affects immunocompromised patients such as those with uncontrolled diabetes mellitus, chronic kidney disease, etc. Despite their low virulence, physicians should consider this opportunistic pathogen as possible etiologic agent especially in cases wherein there is lack of response to commonly used antibiotics.

Keywords: bacteremia, immunocompromised, gram negative rods, Myroides

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Authors: Pandiyarajan Thangaraj, Mangalaraja Ramalinga Viswanathan, Karthikeyan Balasubramanian, Héctor D. Mansilla, José Ruiz

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Rare earth ions doped semiconductor nanostructures gained much attention due to their novel physical and chemical properties which lead to potential applications in laser technology as inexpensive luminescent materials. Doping of rare earth ions into ZnO semiconductor alter its electronic structure and emission properties. Surface modification (polymer covering) is one of the simplest techniques to modify the emission characteristics of host materials. The present work reports the synthesis and structural properties of PVA:Zn97Pr3O polymer nanocomposite free standing films. To prepare Pr3+ doped ZnO nanostructures and PVA:Zn97Pr3O polymer nanocomposite free standing films, the colloidal chemical and solution casting techniques were adopted, respectively. The formation of PVA:Zn97Pr3O films were confirmed through X-ray diffraction (XRD), absorption and Fourier transform infrared (FTIR) spectroscopy analyses. XRD measurements confirm the prepared materials are crystalline having hexagonal wurtzite structure. Polymer composite film exhibits the diffraction peaks of both PVA and ZnO structures. TEM images reveal the pure and Pr3+ doped ZnO nanostructures exhibit sheet like morphology. Optical absorption spectra show free excitonic absorption band of ZnO at 370 nm and, the PVA:Zn97Pr3O polymer film shows absorption bands at ~282 and 368 nm and these arise due to the presence of carbonyl containing structures connected to the PVA polymeric chains, mainly at the ends and free excitonic absorption of ZnO nanostructures, respectively. Transmission spectrum of as prepared film shows 57 to 69% of transparency in the visible and near IR region. FTIR spectral studies confirm the presence of A1 (TO) and E1 (TO) modes of Zn-O bond vibration and the formation of polymer composite materials.

Keywords: rare earth doped ZnO, polymer composites, structural characterization, surface modification

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Authors: Naim Izet Kajtazi

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Introduction: There are few reported cases of ipsilateral weakness following ischemic or hemorrhagic stroke. In these rare cases, ipsilateral weakness is typically the result of damage to uncrossed components of the corticospinal tract (CST), which were recruited in response to previous CST injury. Patients and Methods: We report a series of six cases of acute ipsilateral weakness or numbness following a hemorrhagic or ischemic stroke from three medical institutions in Saudi Arabia. Results: Three of these patients presented with right-sided weakness caused by an ipsilateral right hemispheric stroke, while two exhibited left-sided symptoms and one had only left-sided numbness. In all six cases, the ipsilateral corona radiata, internal capsule, basal ganglia, insula, and thalamus were involved. No concomitant opposite hemisphere or brainstem lesion in none of the patients was evident. Two patients had previous strokes affecting the brainstem and left corona radiata, respectively. A complete stroke workup to reveal the cause of the stroke was carried out, however, no functional MRI was performed. Conclusion: Ischemic or hemorrhagic stroke may indeed result in ipsilateral weakness or numbness, though in very rare cases. We assume that the most likely mechanism of their ipsilateral weakness subsequent to the ipsilateral stroke was a functional reorganization favoring CST pathways within the ipsilateral hemisphere.

Keywords: stroke, weakness, MRI brain, stroke unit

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Authors: Auzair Mehmood, Mohammad Arif

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The LCT (Li, Cs and Ta rich)-type pegmatites, genetically related to peraluminous S-type granites, are being mined for strategic metals (SMs) and rare earth elements (REEs) around the world. This study investigates the SMs and REEs potentials of pegmatites that are spatially associated with an S-type granitic suite of the Himalayan sequence, specifically Mansehra Granitic Complex (MGC), northwest Pakistan. Geochemical signatures of the pegmatites and some of their mineral extracts were analyzed using Inductive Coupled Plasma Mass Spectroscopy (ICP-MS) technique to explore and generate potential prospects (if any) for SMs and REEs. In general, the REE patterns of the studied whole-rock pegmatite samples show tetrad effect and possess low total REE abundances, strong positive Europium (Eu) anomalies, weak negative Cesium (Cs) anomalies and relative enrichment in heavy REE. Similar features have been observed on the REE patterns of the feldspar extracts. However, the REE patterns of the muscovite extracts reflect preferential enrichment and possess negative Eu anomalies. The trace element evaluation further suggests that the MGC pegmatites have undergone low levels of fractionation. Various trace elements concentrations (and their ratios) including Ta versus Cs, K/Rb (Potassium/Rubidium) versus Rb and Th/U (Thorium/Uranium) versus K/Cs, were used to analyze the economically viable mineral potential of the studied rocks. On most of the plots, concentrations fall below the dividing line and confer either barren or low-level mineralization potential of the studied rocks for both SMs and REEs. The results demonstrate paucity of the MGC pegmatites with respect to Ta-Nb (Tantalum-Niobium) mineralization, which is in sharp contrast to many Pan-African S-type granites around the world. The MGC pegmatites are classified as muscovite pegmatites based on their K/Rb versus Cs relationship. This classification is consistent with the occurrence of rare accessory minerals like garnet, biotite, tourmaline, and beryl. Furthermore, the classification corroborates with an earlier sorting of the MCG pegmatites into muscovite-bearing, biotite-bearing, and subordinate muscovite-biotite types. These types of pegmatites lack any significant SMs and REEs mineralization potentials. Field relations, such as close spatial association with parent granitic rocks and absence of internal zonation structure, also reflect the barren character and hence lack of any potential prospects of the MGC pegmatites.

Keywords: exploration, fractionation, Himalayas, pegmatites, rare earth elements

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Authors: David Armany, Matthew Allaway, Preet Gosal, Senarath Edirimanne

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A potentially devastating complication of routine laparoscopic cholecystectomy includes iatrogenic bile duct injuries, which represent a stable incidence rate of 0.3% over the past three decades. Whilst related to several relative risks such as surgeon experience and patient factors (older age, male sex), misinterpretation of biliary tree anatomy remains the most common cause, accounting for 80% of iatrogenic Common Bile Duct injuries. Whilst extremely rare, a duplicate common bile duct anomaly remains a potential variation to encounter during biliary surgery, with 30 recognised cases in the worldwide literature, of which type Vb accounts for 4. We report the case of a rare type Vb variation encountered during intra-operative laparoscopic cholecystectomy and confirmed on cholangiogram. To our knowledge, this is the first documented Type Vb case encountered in an Australian population. Given these anomalies are asymptomatic and can perpetuate iatrogenic common bile duct injuries, awareness of all subtypes is crucial. Irrevocably, preoperative Magnetic Resonance Cholangiopancreatography can help recognise these anomalies before the operating theatre; however, their widespread adoption is limited by expensive and availability.

Keywords: duplicated common bile duct, type Vb, cholecystitis, MRCP, cholangiogram, iatrogenic CBD

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Authors: Sara Canas Pedrosa, Esther Moraleda SepuLveda

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Angelman Syndrome (AS) and Prader-Willi Syndrome (PWS) are considered rare genetic disorders that share the same chromosomal region: 15q11.2-q13. This is why both share some common characteristics, such as, delay in language development. However, there is still little research that specifically focuses on the linguistic profile in these populations. Therefore, the objective of this study was to know the characteristics of oral and written language that Angelman Syndrome and Prader-Willi Syndrome present from the point of view of parents. The sample consisted of 36 families (with children between 6 and 17 years old), of which 23 had children with AS and 13 had children with PWS. All of them answered the Language Assessment Scale of the standardized test CELF-4, Spanish Clinical Evaluation of Language Fundamentals-4 (Wiig, Secord & Semel, 2006). The scale is made up of 40 items that assesses the perception of parents in areas such as: difficulty of listening, speaking, reading and writing. The results indicate that the majority of parents manifest problems in almost all the sub-areas related to oral language and written language, taking into account that many do not achieve a literacy level, with similar results in comparison with both syndromes. These data support the importance of working on oral language delay and its relationship with the subsequent learning of literacy throughout its development.

Keywords: Angelman Syndrome , development, language, Prader-Willi Syndrome

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Authors: Aboozar Dehghan, S. Sharifi, A. Ardeshiri, F. Jafari, F. Samani

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Ultrasonography is a safe, particular, available and easy to use method to evaluate soft tissues. Tendons play the main role to body locomotors system. Ultrasonography performed in tarsus and metatarsus region of rare limb of eight adult, Dromedary camels (camelus dromedaries) in both sex. Clinical examination and gate analysis was performed before slaughtering. From the tarsus to the 1st phalanx was divided to 4 equal region include 1a, 2a, 1b and 2b. Flexor surface was clipped and covered by enough ultrasonography gel. Ultrasonography was performed by linear phased array 8-12 Mhz transducer in transverse and longitudinal section and Superficial digital flexor tendon (SDFT), deep digital flexor tendon (DDFT) and suspensory ligament (SL) were imaged. Echogenicity and diameter of these structures were recorded. Size of tendons and SL measured after necropsy too. statistical analysis obtained that SDFT diameter larger than others in all described regions and mean of DDFT diameter larger than suspensory ligament. Echogenicity of SL more than SDFT and DDFT. No Significant relationship was seen between left and right rare limb structures size. Between sex and tendons and SL diameter, significant relationship not seen.

Keywords: dromedary camel, tars and metatars, ultrasonography

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Authors: C. Lopez, S. Dourdain, G. Arrachart, S. Pellet-Rostaing

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Ionic liquids (ILs) are considered a good alternative for organic solvents in extractive processes; however, the higher or lower extraction efficiency in ILs remains difficult to predict because a lack of understanding of the extraction mechanisms in this class of diluents, making their application difficult to generalize. We have studied the extraction behavior of La(III) and Eu(III) from aqueous solution into n-dodecane and two ionic liquids (ILs), 1-ethyl-1-butylpiperidinium bis (trifluoromethylsulfonyl)imide [EBPip⁺] [NTf₂⁻] and 1-ethyl-1-octylpiperidinium bis (trifluoromethylsulfonyl)imide [EOPip⁺] [NTf₂⁻], at room temperature using N,N’- dimethyl- N,N’-dioctylhexylethoxymalonamide (DMDOHEMA) as extractant. Fe(III) was introduced to the aqueous phase in order to study the selectivity toward La(III) and Eu(III) and the effect of variation of PH was investigated by using of several HNO₃ concentrations. We found that the ionic liquid with shorter alkyl chain [EBPip⁺] [NTf₂⁻] showed a higher extraction ability than [EOPip⁺] [NTf₂⁻] and that the use of ILs as organic solvent instead n-dodecane, greatly enhanced the extraction percentage of the target metals with a good selectivity. Cation ([EBPip⁺] or [EOPip⁺]) and anion ([NTf₂⁻]) concentration in the aqueous phase, has been determined in order to elucidate the extraction mechanism.

Keywords: extraction mechanism, ionic liquids, rare earths elements, solvent extraction

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Authors: Naraporn Taemaitree, Pruet Areesawangvong, Satchachon Changthom, Tanin Titipungul

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Adult intussusception, unlike childhood intussusception, is rare. Approximately 5-15% of cases are idiopathic without a lead point lesion. Secondary intussusception is caused by pathological conditions such as inflammatory bowel disease, postoperative adhesions, Meckel’s diverticulum, benign and malignant lesions, metastatic neoplasms, or even iatrogenically due to the presence of intestinal tubes, jejunostomy feeding tubes or after gastric surgery. Diagnosis can be delayed because of its longstanding, intermittent, and non-specific symptoms. Computed tomography is the most sensitive diagnostic modality and can help distinguish between intussusceptions with and without a lead point and lesion localization. This report presents the case of a 49-year-old man presented with increasing abdominal pain over the past three days, loss of appetite, constipation, and frequent vomiting. Computed tomography revealed distal small bowel obstruction at the right lower quadrant with thickened outer wall and internal non-dilated small bowel loop. Emergency exploratory laparotomy was performed to clear the obstruction, which upon inspection was caused by extremely long Taenia solium parasites.

Keywords: intussusception, tape worm, Taenia solium, abdominal pain

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Authors: Bing Lu, Shuang Li, Hongyuan Zhou

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The steel–concrete hybrid structure has been extensively employed in high–rise buildings and super high–rise buildings. The light gauge steel–concrete hybrid structure, including light gauge steel structure and concrete hybrid structure, is a new–type steel–concrete hybrid structure, which possesses some advantages of light gauge steel structure and concrete hybrid structure. The seismic behavior and loss assessment of three high–rise buildings with three different concrete hybrid structures were investigated through finite element software, respectively. The three concrete hybrid structures are reinforced concrete column–steel beam (RC‒S) hybrid structure, concrete–filled steel tube column–steel beam (CFST‒S) hybrid structure, and tubed concrete column–steel beam (TC‒S) hybrid structure. The nonlinear time-history analysis of three high–rise buildings under 80 earthquakes was carried out. After simulation, it indicated that the seismic performances of three high–rise buildings were superior. Under extremely rare earthquakes, the maximum inter–storey drifts of three high–rise buildings are significantly lower than 1/50. The inter–storey drift and floor acceleration of high–rise building with CFST‒S hybrid structure were bigger than those of high–rise buildings with RC‒S hybrid structure, and smaller than those of high–rise building with TC‒S hybrid structure. Then, based on the time–history analysis results, the post-earthquake repair cost ratio and repair time of three high–rise buildings were predicted through an economic performance analysis method proposed in FEMA‒P58 report. Under frequent earthquakes, basic earthquakes and rare earthquakes, the repair cost ratio and repair time of three high-rise buildings were less than 5% and 15 days, respectively. Under extremely rare earthquakes, the repair cost ratio and repair time of high-rise buildings with TC‒S hybrid structure were the most among three high rise buildings. Due to the advantages of CFST-S hybrid structure, it could be extensively employed in high-rise buildings subjected to earthquake excitations.

Keywords: seismic behavior, loss assessment, light gauge steel–concrete hybrid structure, high–rise building, time–history analysis

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Authors: Michelangelo Liban, Debbie Liquete

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A case of a 93-year-old Filipina who experienced a sudden onset of left-sided hemichorea hemiballismus after falling from a standing height due to dizziness and then sought consult at the Emergency Room. She was not known to have diabetes mellitus nor experienced any symptoms of diabetes aside from its rare neurological manifestation of hemichorea-hemiballismus prior to this consult. On further workup, her baseline laboratory tests at the Emergency Room Department showed a CBG of 340mg/dL, an HbA1c of 15%, no ketones were detected in her urine but a hyperdensity with a Hounsfeld unit of 38 on CT, and hyperintensity on T1 weighted MRI on her right striatum with an incidental finding of a subdural hematoma measured as a 0.7cm hyperdensity on her right temporoparietal area with no midline shift. She was then treated with Clonazepam 2mg ¼ tab twice a day before bedtime and insulin 70/30 16 units in the morning and eight units in the evening, which provided good glycemic control maintained at 140-180 mg/dL, complete cessation of the left-sided hemichorea hemiballismus was also observed. The subdural hematoma was deemed non-surgical, and she refused admission into our institution; hence observation on an outpatient basis was done. This is a case of a rare neurological manifestation of diabetes mellitus but with good treatment response to anti-chorea medications combined with diabetes medications.

Keywords: hemichorea, hemiballismus, striatopathy, diabetes

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Authors: Giorgi Chichinadze, David Shengelia, Tamara Tsutsunava, Nikoloz Maisuradze, Giorgi Beridze

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The Jalovchat intrusive is built up of hornblende gabbros, gabbro-norites and norites. Within the intrusive hornblende-bearing gabbro-pegmatites are widespread. That is a coarse-grained rock with gigantic hornblende crystals. By its unusual composition, the Jalovchat intrusive has no analogue in the Caucasus. However, petrologically and geochemically, the intrusive rocks were studied insufficiently. For comprehensive investigations, the authors applied appropriate methodologies: Microscopic study of thin sections, petro- and geochemical analyses of the samples and also different petrogenic, rare and rare earth elements diagrams and spidergrams. Analytical study established that the Jalovchat intrusive by its composition corresponds mainly to the mid-ocean ridge basalts and according to geodynamic type belongs to the subduction type. In general, it is an anomalous phenomenon, as in the rocks of such composition crystallization of hornblende and especially of its gigantic crystals is atypical. The authors believe that the water-rich magma reservoir, which was necessary for the crystallization of gigantic hornblende crystals, appeared as a result of melting of water-rich mid-ocean ridge basaltic rocks during the subduction process in Bajocian time.

Keywords: gabbro-pegmatite, intrusive, petrogenesis, petrogeochemistry, the Caucasus

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Authors: Atitallah Sofien, Bouyahia Olfa, Mohsen S., Boussetta Khadija, Khemiri Monia, Fitouri Zohra, Boukthir Samir

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Introduction: Megaloblastic anemia (MA) is rare in children. The diversity of its etiologies can lead to misdiagnosis and may, therefore, delay the treatment. The aim of this study was to describe the epidemiological and etiological characteristics of children followed for MA at the Tunis children's hospital. Methodology: This is a retrospective study over a period of 25 years of all cases of MA in children in the Children's Hospital of Tunis. The diagnosis of MA was confirmed by myelogram in all patients. Results: We collected 29 observations, with an incidence of 1.2 cases/year and a sex ratio of 1. Sixty percent of the children were aged between 3 months and 2 years. The consultation time was between 15 and 30 days in a third of the patients. The clinical examination showed hypotrophy in 13% of cases, hepatosplenomegaly in 6% of cases, neurological or neurosensory damage in 23% of cases, and cardiac damage in 10% of children. MA was associated with thrombocytopenia in 65% of cases and leukoneutropenia in 24% of cases. One in 5 children had pancytopenia. The etiologies were mainly thiamine deficiency, Immerslund disease (20%), nutritional deficiency (13%), and Biermer anemia (13%). One of the patients presented an MA revealing visceral leishmaniasis. The outcome under vitamin B12, the dose of which was adapted to each etiology, was favorable for all patients. Conclusion: MA is rare in children with multiple etiologies that are mainly dominated by hereditary conditions and nutritional deficiencies, mainly in vitamin B12. The association with visceral leishmaniasis seems to be a particularity in our country not reported in the literature.

Keywords: megaloblastic anemia, children, vitamin B12, anemia

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Authors: Ariesny Vera, Rodrigo Montecinos

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The rare-earth elements (REEs) or rare-earth metals (REMs), correspond to seventeen chemical elements composed by the fifteen lanthanoids, as well as scandium and yttrium. Lanthanoids corresponds to lanthanum and the f-block elements, from cerium to lutetium. Scandium and yttrium are considered rare-earth elements because they have ionic radii similar to the lighter f-block elements. These elements were called rare earths because they are simply more difficult to extract and separate individually than the most metals and, generally, they do not accumulate in minerals, they are rarely found in easily mined ores and are often unfavorably distributed in common ores/minerals. REEs show unique chemical and physical properties, in comparison to the other metals in the periodic table. Nowadays, these physicochemical properties are utilized in a wide range of synthetic, catalytic, electronic, medicinal, and military applications. Because of their applications, the global demand for rare earth metals is becoming progressively more important in the transition to a self-sustaining society and greener economy. However, due to the difficult separation between lanthanoid ions, the high cost and pollution of these processes, the scientists search the development of a method that combines selectivity and quantitative separation of lanthanoids from the leaching liquor, while being more economical and environmentally friendly processes. This motivation has favored the design and development of more efficient and environmentally friendly cation extractors with the incorporation of compounds as ionic liquids, membrane inclusion polymers (PIM) and supramolecular systems. Supramolecular chemistry focuses on the development of host-guest systems, in which a host molecule can recognize and bind a certain guest molecule or ion. Normally, the formation of a host-guest complex involves non-covalent interactions Additionally, host-guest interactions can be influenced among others effects by the structural nature of host and guests. The different macrocyclic hosts for lanthanoid species that have been studied are crown ethers, cyclodextrins, cucurbituryls, calixarenes and pillararenes.Among all the factors that can influence and affect lanthanoid (III) coordination, perhaps the most basic of them is the systematic control using macrocyclic substituents that promote a selective coordination. In this sense, macrocycles pillar[n]arenes (P[n]As) present a relatively easy functionalization and they have more π-rich cavity than other host molecules. This gives to P[n]As a negative electrostatic potential in the cavity which would be responsible for the selectivity of these compounds towards cations. Furthermore, the cavity size, the linker, and the functional groups of the polar headgroups could be modified in order to control the association of lanthanoid cations. In this sense, different P[n]As systems, specifically derivatives of the pentamer P[5]A functionalized with amide, amine, phosphate and sulfate derivatives, have been designed in terms of experimental synthesis and molecular dynamics, and the interaction between these P[5]As and some lanthanoid ions such as La³+, Eu³+ and Lu³+ has been studied by physicochemical characterization by 1H-NMR, ITC and fluorescence in the case of Eu³+ systems. The molecular dynamics study of these systems was developed in hexane as solvent, also taking into account the lanthanoid ions mentioned above, and the respective comparison studies between the different ions.

Keywords: lanthanoids, macrocycles, pillar[n]arenes, rare-earth metal extraction, supramolecular chemistry, supramolecular complexes.

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Authors: Hurtado Zuñiga Yonel Marcos, Ferreira Joao Tiago

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Introduction: Leiomyoma is a benign smooth muscle tumor. It is predominantly found between 40-49 years with a small prevalence in men. It is commonly found in the uterus, stomach, and in areas with smooth muscle. It presents as nodular, solitary, variable size, slow growing, and asymptomatic. It is classified into solid, vascular, and epithelioid leiomyoma. Vascular leiomyoma is the most common in the oral cavity. Oral leiomyomas are very rare because a smooth muscle in the oral cavity isn’t common. The most frequent areas of this pathologyaretongue, lip, buccal mucosa, and palate. It may be derived from the vascular walls or excretory ducts of the salivary glands. The diagnosis is made by histologically analysis. The treatment of choice is complete excision. Recurrence is rare. Objective: To report the case of a solid leiomyoma on the dorsum of the tongue and review the literature. Case description: A 78-year-old female patient presented a nodular (ovoid) elevation of 8x6mm, brownish color, with irregular limits and firm consistency located in the dorsal part of the tongue with slight symptoms. An excisional biopsy was performed, photographic record, and 3 weeks post-surgical follow-up. Result: The surgical specimen was submitted to an anatomopathological analysis, resulting in a benign nodule with defined limits compatible with solid leiomyoma of the tongue. Discussion: It is a pathology that presents in a solitary, nodular, well-defined, asymptomatic form; in the oral cavity, leiomyomas are found in the tongue, lip, buccal mucosa, and palate; as in our patient, it was nodular and, in the tongue, with a difference only in the symptomatology. The most prevalent age is 40-49 years and with small predominance in men, unlike our female patient with 78 years. Conclusions: Oral leiomyoma is a rare benign lesion that presents as a solitary nodular nodule; for its diagnosis, an anatomopathological analysis should be performed, and the treatment of choice is total excision with little recurrence.

Keywords: tongue, bening tumor, oral leiomyoma, leiomyoma

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Authors: Mohamed Shafi Bin Mahboob Ali

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Introduction: Synchronous tumor is defined as the presence of more than one primary malignant lesion in the same patient at the indexed diagnosis. It is a rare occurrence, especially in the spectrum of colorectal cancer, which accounts for less than 4%. The underlying pathology of a synchronous tumor is thought to be due to a genomic factor, which is microsatellite instability (MIS) with the involvement of BRAF, KRAS, and the GSRM1 gene. There are no specific sites of occurrence for the synchronous colorectal tumor, but many studies have shown that a synchronous tumor has about 43% predominance in the ascending colon with rarity in the sigmoid colon. Case Report: We reported a case of a young lady in the middle of her 30's with no family history of colorectal cancer that was diagnosed with a synchronous adenocarcinoma at the descending colon and rectosigmoid region. The lady's presentation was quite perplexing as she presented to the district hospital initially with simple, uncomplicated hemorrhoids and constipation. She was then referred to our center for further management as she developed a 'football' sized right gluteal swelling with a complete intestinal obstruction and bilateral lower-limb paralysis. We performed a CT scan and biopsy of the lesion, which found that the tumor engulfed the sacrococcygeal region with more than one primary lesion in the colon as well as secondaries in the liver. The patient was operated on after a multidisciplinary meeting was held. Pelvic exenteration with tumor debulking and anterior resection were performed. Postoperatively, she was referred to the oncology team for chemotherapy. She had a tremendous recovery in eight months' time with a partial regain of her lower limb power. The patient is still under our follow-up with an improved quality of life post-intervention. Discussion: Synchronous colon cancer is rare, with an incidence of 2.4% to 12.4%. It has male predominance and is pathologically more advanced compared to a single colon lesion. Down staging the disease by means of chemoradiotherapy has shown to be effective in managing this tumor. It is seen commonly on the right colon, but in our case, we found it on the left colon and the rectosigmoid. Conclusion: Managing a synchronous colon tumor could be challenging to surgeons, especially in deciding the extent of resection and postoperative functional outcomes of the bowel; thus, individual treatment strategies are needed to tackle this pathology.

Keywords: synchronous, colon, tumor, adenocarcinoma

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Authors: Yaser Meeralam, Walaa Alharthi, Hadeel Ashi, Alaa Bakhsh, Kholood Aljabri, Ebtihal Bin Salim

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Background:Basidiobolusranrum causes one of the rare fungal diseases that infects mainly immunocompetent individuals. Gastrointestinal Basidiobolomycosis (GIB) is a rare and uncommon form of this fungal infection. It’s still ambiguous how this fungus is reaching the gastrointestinal tract leading to Gastrointestinal Basidiobolomycosis. Objective: To summarize the clinical features, imaging, and histopathological of patients diagnosed with GIB in our institution. Patients and methods: A series of five cases of patients who diagnosed by basidiobolomycosis in King Abdullah Medical City, Makkah, Saudi Arabia, which reviewed by latest literature related to diagnosis and treatment. Results: Most of the patients were externally evaluated and were initially misdiagnosed. Some of them were suspected of colonic malignancy, other presumed to have hepatic hemangioma and fistulizing crohn’s disease. The definitive diagnosis is often based on histopathological examination and fungal culture of the surgically resected mass. An optimum standardized treatment of basidiobolomycosis has not yet been established. Conclusion: Deeper knowledge of clinical characteristics, diagnosis, and treatment of basidiobolomycosis will allow early initiating of treatment with a subsequent positive impact on the patients’ outcome. More studies are needed to establish a definite treatment.

Keywords: gastrointestinal infection, crohn's mimics, malignancy mimics, fungal infection

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Authors: Khalid Al Mutairi, Mashhor Mansor, Magdy El-Bana, Saud L. Al-Rowaily, Asyraf Mansor

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The present study was carried out in 20 islands of Farasan Archipelago in Saudi Arabia to describe the biogeography patterns of plants. A total of 191 species belonging to 129 genera and 53 families were identified. Following island biogeography theory, total plant species richness and their ecological groups were positively influenced by island size, number of habitats,elevation and were not affected by isolation. The high level of nestedness, the strong effect of area on total plant species richness and ecological groups, and the similarity of vegetation composition on the islands has several implications for conservation. In conclusion the large and richest islands in Farasan Archipelago such as Farasan Alkbir would conserve higher diversity than several smaller islands. This island also includes rare habitats like coral rocks and rare species. The invasion of the unique habitats such as wadi channels and water catchments in this island by the exotic tree Prosopis juliflora should be managed to conserve the native biodiversity. The protection of such critical habitats is very important on the other large island (e.g. Zufaf), due to their limited distribution in the country.

Keywords: island biogeography, conservation, farasan archipelago, saudi arabia, plant diversity

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Authors: Shantanu Vyas, Neerja Meena

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Facial infiltrating lipomatosis is a rare lipomatous lesion, first described by Slavin in 1983. It is a benign pseudotumor pathology. It corresponds to a non-encapsulated collection of mature adipocytes infiltrating the local tissue and hyperplasia of underlying bone leading to a craniofacial deformity. Very few cases have been reported in the literature. We report the case of a 19-year-old female patient, who was consulted for a swelling of the right hemiface progressively evolving since birth. Physical examination revealed facial asymmetry. On palpation, the mass was soft, painless, not compressible, not pulsatile, not fluctuating. In view of the asymptomatic nature and slow progression of the lesion, a lipomatous tumour, namely lipoma, was suggested. CT scan image shows a hyperplastic subcutaneous fat on the right hemiface. On the right jugal and temporal areas, there is a subcutaneous formation of fatty density, poorly limited, with no detectable peripheral capsule. It merges with the adjacent fat. In the bone window, there was a hyperplasia of underlying bone. Facial lipomatosis infiltration of the face is a benign pseudotumor pathology. As a result, it can be confused with other disorders, in particular, hemifacial hyperplasia. Combination of physical and radiological findings can establish the diagnosis. Surgical treatment is done for cosmetic purposes.

Keywords: cosmetic correction and facial assemetry, aesthetic results, facial infiltration, surgery

Procedia PDF Downloads 39

Authors: Emiru Birhane, Tesfay Gidey, Haftu Abrha, Abrha Brhan, Amanuel Zenebe, Girmay Gebresamuel, Florent Noulèkoun

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Dracaena ombet and Dobera glabra are two of the most rare and endangered tree species in dryland areas. Unfortunately, their sustainability is being compromised by different anthropogenic and natural factors. However, the impacts of ongoing land use and climate change on the population structure and distribution of the species are less explored. This study was carried out in the grazing lands and hillside areas of the Desa'a dry Afromontane forest, northern Ethiopia, to characterize the population structure of the species and predict the impact of climate change on their potential distributions. In each land-use type, abundance, diameter at breast height, and height of the trees were collected using 70 sampling plots distributed over seven transects spaced one km apart. The geographic coordinates of each individual tree were also recorded. The results showed that the species populations were characterized by low abundance and unstable population structure. The latter was evinced by a lack of seedlings and mature trees. The study also revealed that the total abundance and dendrometric traits of the trees were significantly different between the two land uses. The hillside areas had a denser abundance of bigger and taller trees than the grazing lands. Climate change predictions using the MaxEnt model highlighted that future temperature increases coupled with reduced precipitation would lead to significant reductions in the suitable habitats of the species in northern Ethiopia. The species' suitable habitats were predicted to decline by 48–83% for D. ombet and 35–87% for D. glabra. Hence, to sustain the species populations, different strategies should be adopted, namely the introduction of alternative livelihoods (e.g., gathering NTFP) to reduce the overexploitation of the species for subsistence income and the protection of the current habitats that will remain suitable in the future using community-based exclosures. Additionally, the preservation of the species' seeds in gene banks is crucial to ensure their long-term conservation.

Keywords: grazing lands, hillside areas, land-use change, MaxEnt, range limitation, rare and endangered tree species

Procedia PDF Downloads 42

Authors: Atitallah Sofien, Bouyahia Olfa, Attar Souleima, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir

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Introduction: Ciliopathies are a spectrum of diseases that have in common a defect in the synthesis of ciliary proteins. It is a rare cause of neonatal cholestasis. Clinical presentation varies extremely, and the main affected organs are the kidneys, liver, and pancreas. Methodology: This is a descriptive case report of a newborn who was admitted for exploration of neonatal cholestasis in the Paediatric Department C at the Children’s Hospital of Tunis, where the investigations concluded with a rare genetic mutation. Results: This is the case of a newborn male with no family history of hepatic and renal diseases, born to consanguineous parents, and from a well-monitored uneventful pregnancy. He developed jaundice on the second day of life, for which he received conventional phototherapy in the neonatal intensive care unit. He was admitted at 15 days for mild bronchiolitis. On clinical examination, intense jaundice was noted with normal stool and urine colour. Initial blood work showed an elevation in conjugated bilirubin and a high gamma-glutamyl transferase level. Transaminases and prothrombin time were normal. Abdominal sonography revealed hepatomegaly, splenomegaly, and undifferentiated renal cortex with bilateral medullar micro-cysts. Kidney function tests were normal. The infant received ursodeoxycholic acid and vitamin therapy. Genetic testing showed a homozygous mutation in the DCDC2 gene that hadn’t been documented before confirming the diagnosis of renal-hepatic ciliopathy. The patient has regular follow-ups, and his conjugated bilirubin and gamma-glutamyl transferase levels have been decreasing. Conclusion: Genetic testing has revolutionized the approach to etiological diagnosis in pediatric cholestasis. It enables personalised treatment strategies to better enhance the quality of life of patients and prevent potential complications following adequate long-term monitoring.

Keywords: cholestasis, newborn, ciliopathy, DCDC2, genetic

Procedia PDF Downloads 27

Authors: K. D. Chandrasekhar, H. C. Wu, D. J. Hsieh, B. J. Song, J. -Y. Lin, J. L. Her, L. Z. Deng, M. Gooch, C. W. Chu, H. D. Yang

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Stress-mediated coupling of electrical and magnetic dipoles in a single phase multiferroic is rare. Pb₂MnO₄ belong to multi-piezo crystal class with the space group P⁻42₁

Keywords: multiferroic, multipiezo, Pb₂MnO₄, spin-flip

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Authors: Sally Shepherd, Jessica Wong, David Read

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Traumatic brachiocephalic artery aneurysm is a rare injury that typically occurs as a result of a blunt chest injury. A 19-year-old female sustained a head-on, high speed motor vehicle crash into a tree. Upon release after 45 minutes of entrapment, she was tachycardic but normotensive, with a significant seatbelt sign across her chest and open deformed right thigh with weak pulses in bilateral lower limbs. A chest XR showed mild upper mediastinal widening. A CT trauma series plus gated CT chest revealed a grade 3a aortic arch transection with brachiocephalic pseudoaneurysm. Endovascular repair of the brachiocephalic artery was attempted post-presentation but was unsuccessful as the first stent migrated to the infrarenal abdominal aorta and the second stent across the brachiocephalic artery origin had a persistent leak at the base. She was transferred to Intensive Care for strict blood pressure control. She returned to theatre 5 hours later for a median sternotomy, aortic arch repair with an 8mm graft extraction, and excision of the innominate artery pseudoaneurysm. She had an uncomplicated post-operative recovery. This case highlights that brachiocephalic artery injury is a rare but potentially lethal injury as a result of blunt chest trauma. Safe management requires a combined Vascular and Cardiothoracic team approach, as stenting alone may be insufficient.

Keywords: blunt chest injury, Brachiocephalic aneurysm, innominate artery, trauma

Procedia PDF Downloads 200

Authors: Chaitanya H. Acharya, Pavan Kumar P., Gopalakrishna Narayana

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In the realm of aerodynamics, numerous vehicles incorporate moving components to enhance their performance. For instance, airliners deploy hydraulically operated flaps and ailerons during take-off and landing, while Formula 1 racing cars utilize hydraulic tubes and actuators for various components, including the Drag Reduction System (DRS). The DRS, consisting of a rear wing and adjustable flaps, plays a crucial role in overtaking manoeuvres. The DRS has two positions: the default position with the flaps down, providing high downforce, and the lifted position, which reduces drag, allowing for increased speed and aiding in overtaking. Swift deployment of the DRS during races is essential for overtaking competitors. The fluid flow over the rear wing flap becomes intricate during deployment, involving flow reversal and operational changes, leading to unsteady flow physics that significantly influence aerodynamic characteristics. Understanding the drag and downforce during DRS deployment is crucial for determining race outcomes. While experiments can yield accurate aerodynamic data, they can be expensive and challenging to conduct across varying speeds. Computational Fluid Dynamics (CFD) emerges as a cost-effective solution to predict drag and downforce across a range of speeds, especially with the rapid deployment of the DRS. This study employs the finite volume-based solver Ansys Fluent, incorporating dynamic mesh motions and a turbulent model to capture the complex flow phenomena associated with the moving rear wing flap. A dedicated section for the rare wing-flap is considered in the present simulations, and the aerodynamics of these sections closely resemble S1223 aerofoils. Before delving into the simulations of the rare wing-flap aerofoil, numerical results undergo validation using experimental data from an NLR flap aerofoil case, encompassing different flap angles at two distinct angles of attack was carried out. The increase in flap angle as increase in lift and drag is observed for a given angle of attack. The simulation methodology for the rare-wing-flap aerofoil case involves specific time durations before lifting the flap. During this period, drag and downforce values are determined as 330 N and 1800N, respectively. Following the flap lift, a noteworthy reduction in drag to 55 % and a decrease in downforce to 17 % are observed. This understanding is critical for making instantaneous decisions regarding the deployment of the Drag Reduction System (DRS) at specific speeds, thereby influencing the overall performance of the Formula 1 racing car. Hence, this work emphasizes the utilization of dynamic mesh motion methodology to predict the aerodynamic characteristics during the deployment of the DRS in a Formula 1 racing car.

Keywords: DRS, CFD, drag, downforce, dynamics mesh motion

Procedia PDF Downloads 59