Search results for: rare

Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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Authors: Okan Cakir, Ibrahim Arziman, Derya Can, Mete Erkencigil, Murat Durusu, S. Mehmet Yasar

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Introduction: Burn injuries from different types and ways commonly seen in emergency departments, approach and treatment varies from outpatient treatment to critical care unit. We wanted to mention a rare burn injury cause of air conditioner refrigerant. Case report: A 22-year-old case admitted to emergency department with a complaint of left hand burn injury and pain. In his history, he said that an accident was occurred before 30 minutes from admission while he had been trying to repair the air conditioner. Air conditioner refrigerant suddenly had erupted from its tank and burned his hand. In physical examination of extremities, second-degree burn bullae on the left hand on second and third proximal phalanx, between first and second phalanx palmar side and on hypothenar region and on third and fourth proximal phalanx and also hyperemia from hand to wrist were seen. There was no motor and sensorial deficiency. As a treatment, local silver sulfadiazine applied to the burn area and analgesic prescribed. The case called for the clinical follow-up to the plastic surgery department. Conclusion: The clinician should take a comprehensive and careful anamnesis for suitable and right management and treatment as in this case in which as well as rare and occurs different way.

Keywords: air conditioner refrigerant, burn, emergency department, rare

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Authors: Kristýna Weissová

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This study is focused on two selected model taxa of invertebrates - Hymenoptera: Aculeata and Lepidopterawithnocturnalactivity, recordedatthesitesof lignite dumps and their surroundings in the North Bohemian Lignite Basin, Czech Republic. There search was conducted on 10 landfills, 3 study areas were determined on each landfill - primary and secondary succession and recultivation. A total of 3,202 individuals belonging to 232 species and 17 families of sagebrushinsects were collected. died, 74%of the species occurred on the primary succes sionare as, that is 2x more species than on the reclaimed areas. Of the total number of species and on all areas, 60 rare species were recorded - 29 vulnerable, 21 endangered, 8 critically endangered, and 2 extinct The areas of primary succession were again confirmed to be the richest in terms of rare species, hosting 39 rare species of Hymenoptera: Aculeata. In addition, bothextinct species were represented only on plots of primary succession. The family Crabronidae had the largestre presentation of species on theareasofleft primary succession, the family Halictidae was the most represented on the reclaimed areas and areas of secondary succession. A total of 3,634 moths were collected, assigned to 262 species and 10 families. A similar number of species occurred on the primary succession and reclaimed areas, but the reclaimed area had a greater abundance. Secondary successionsiteshostedha lf as many species and alsocontainedlow abundance compared to other management types. The results show that there claimed areas host a numerically larger group and more species of moths than the successionalareas. Rare species did not occur at any site. A higher number of days in locations without water bodies, wetland vegetation, and locations with a highre presentation of woody species. It is advisable to combine individual types of landscape management in such a way as to create a colorfulmosaic that supports biodiversity. In particular, we recommend incorporating natural successionintoreclamation plans, which is a refuge for many rare species of invertebrates, which has not yetbeenroutinely and purposefully practiced.

Keywords: hymenoptera: aculeata, lepidoptera, reclamation, succession, post-mining ara

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Authors: Vera Varazashvili, Murman Tsarakhov, Tamar Mirianashvili, Teimuraz Pavlenishvili, Tengiz Machaladze, Mzia Khundadze

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Standard Gibbs energy of formation ΔGfor(298.15) of lanthanide-iron double oxides of garnet-type crystal structure R3Fe5O12 - RIG (R – are rare earth ions) from initial oxides are evaluated. The calculation is based on the data of standard entropies S298.15 and standard enthalpies ΔH298.15 of formation of compounds which are involved in the process of garnets synthesis. Gibbs energy of formation is presented as temperature function ΔGfor(T) for the range 300-1600K. The necessary starting thermodynamic data were obtained from calorimetric study of heat capacity – temperature functions and by using the semi-empirical method for calculation of ΔH298.15 of formation. Thermodynamic functions for standard temperature – enthalpy, entropy and Gibbs energy - are recommended as reference data for technological evaluations. Through the isostructural series of rare earth-iron garnets the correlation between thermodynamic properties and characteristics of lanthanide ions are elucidated.

Keywords: calorimetry, entropy, enthalpy, heat capacity, gibbs energy of formation, rare earth iron garnets

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Authors: Muhandiram Rallage Ruvini Nisansala Yatigammana, Anuruddhika Kumudu Kumari Rajakaruna Jayathilaka

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Sports injuries are common among teenagers and children engaged in organized sports. While most sports injuries are typical, some rare occurrences involve conditions such as eye, dental, cervical, and rare internal organ injuries, such as pancreatic injuries. These injuries, especially traumatic pancreatitis, require prompt attention due to their potential for severe and sometimes fatal complications. This case revolves around a real accident involving a 12-year-old girl, Piyumi, who suffered a face-to-face collision during netball practice, resulting in severe abdominal pain. After a medical examination, she was diagnosed with a rare pancreatic injury, uncommon in children compared to adults. In Piyumi’s case, she had a grade 3 pancreatic injury and underwent non-surgical management, successfully healing her wound without surgery. The study attempts to fill empirical and population gaps, addressing a rarely discussed injury experienced by a 12-year-old female netball player. The paper will also provide an in-depth understanding of pancreatic injury, which is a rare sports injury. The study’s main objective was to investigate the incidence and characteristics of pancreatic injury, particularly focusing on pancreatic trauma, among children and adolescents engaged in high-impact sports, such as netball. This research adopted a case study strategy, employing interviews as the primary data collection method. Interviews were conducted with Piyumi, her parents, and the two specialist doctors directly involved in her treatment, providing firsthand accounts and insights. By examining the case, the paper arrives at three main conclusions. Firstly, pancreatic damage is uncommon, especially in the sports world, and proper diagnosis is essential to avoiding health concerns, particularly for minors. Secondly, CT (Computed Tomography) was useful in locating the injury, as injuries can be diagnosed very well with Computed Tomography (CT) images. Finally, and most importantly, pancreatic injuries are infrequent, but trauma can still occur, particularly in high-impact sports or accidents involving extreme force or falls. These injuries should be accurately diagnosed and treated promptly.

Keywords: child athlete, pancreatic injury, rare sports injuries, sportswoman

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Authors: Vera Varazashvili, Murman Tsarakhov, Tamar Mirianashvili, Teimuraz Pavlenishvili, Tengiz Machaladze, Mzia Khundadze

Abstract:

Standard Gibbs energy of formation ΔGfor(298.15) of lanthanide-iron double oxides of garnet-type crystal structure R3Fe5O12 - RIG (R – are rare earth ions) from initial oxides are evaluated. The calculation is based on the data of standard entropies S298.15 and standard enthalpies ΔH298.15 of formation of compounds which are involved in the process of garnets synthesis. Gibbs energy of formation is presented as temperature function ΔGfor(T) for the range 300-1600K. The necessary starting thermodynamic data were obtained from calorimetric study of heat capacity and by using the semi-empirical method for calculation of ΔH298.15 (formation). Thermodynamic functions for standard temperature – enthalpy, entropy and Gibbs energy - are recommended as reference data for technological evaluations. Through the isostructural series of rare earth-iron garnets the correlation between thermodynamic properties and characteristics of lanthanide ions are elucidated.

Keywords: calorimetry, entropy, heat capacity, Gibbs energy of formation, rare earth iron garnets

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Authors: Anshul Raja

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Cystic lesions of the spleen are rare and splenic hydatid cysts account for only 0.5% to 8% of all hydatidosis. Authors hereby report a case where a 50-year-old female presented to our hospital with the complains of heaviness and pain over left upper abdomen over the past 8-10 years. On radiological examination, ultrasonography revealed findings consistent with isolated splenic hydatid cyst and was later on confirmed on Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). No other organ or system involvement was seen. The patient underwent splenectomy and hydatid cyst was confirmed on histopathology. Owing to its rarity, it offers a diagnostic challenge to physicians but can reliably be diagnosed with great confidence employing various imaging modalities like CT and MRI.

Keywords: gastrointestinal radiology, abdominal imaging, hydatid cyst, medical and health sciences

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Authors: Shahla Afshar Paiman, Sedigheh Madani, Zahra Hosseininezhad

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Introduction: The most common causes of appendix luminal obstruction are fecaliths and lymphoid follicle hyperplasia. Appendicitis is a very rare Gastrointestinal complication of varicella zosterand it is mostly observed in immune-compromised patient. Case presentation: Here we reported a case of varicella zoster-related perforated appendicitis with synchronous encephalopathy as a first presentation of chickenpox in a 10-year-old boy. He had no history of immunodeficiency or predisposing factors and his diagnosis is confirmed by both serological lab tests and abdominal fluid (peritoneal secretion) PCR. Conclusion: Varicella zoster could cause appendicitis as first presentation, along with other critical complications look likes encephalopathy.

Keywords: Varicella zoster, appendicitis, encephalitis, children

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Authors: Daniel C. Bonzo

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Practical considerations lead to the use of unit of analysis within subjects, e.g., bleeding episodes or treatment-related adverse events, in rare disease settings. This is coupled with data augmentation techniques such as extrapolation to enlarge the subject base. In general, one can think about extrapolation of data as extending information and conclusions from one estimand to another estimand. This approach induces hierarchichal clustered data with varying cluster sizes. Extrapolation of clinical trial data is being accepted increasingly by regulatory agencies as a means of generating data in diverse situations during drug development process. Under certain circumstances, data can be extrapolated to a different population, a different but related indication, and different but similar product. We consider here the problem of estimation (point and interval) using a mixed-models approach under an extrapolation. It is proposed that estimators (point and interval) be constructed using weighting schemes for the clusters, e.g., equally weighted and with weights proportional to cluster size. Simulated data generated under varying scenarios are then used to evaluate the performance of this approach. In conclusion, the evaluation result showed that the approach is a useful means for improving statistical inference in rare disease settings and thus aids not only signal detection but risk-benefit evaluation as well.

Keywords: clustered data, estimand, extrapolation, mixed model

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Authors: Thieu-Thi Tra My

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Undifferentiated embryonal sarcoma of the liver (UESL), a rare malignant mesenchymal tumor, is commonly seen in children. The symptoms and imaging were not specific, so it could be mimicked with other tumors or liver abscesses. The tumor often appears as a large heterogeneous echoic solid mass with small cystic areas while showing a cyst-like appearance on CT and MRI. The histopathological manifestation of the UESL consisted of stellate-shaped and spindle cells scattered on a myxoid background with high mitotic count. Cells with multiple or bizarre nuclear were also observed. Here, we aimed to describe a 9-year-old male diagnosed with UESL focused on imaging and histopathological characteristics.

Keywords: undifferentiated embryonal sarcoma of liver, UESL, liver sarcoma, liver tumor, children

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Authors: Pamela Ventola, Laurel Bales, Sara Florczyk

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Background: Fully remote or hybrid administration of clinical outcome measures in rare neurodevelopmental disorders trials is increasing due to the ongoing pandemic and recognition that remote assessments reduce the burden on families. Many assessments in rare neurodevelopmental disorders trials are complex; however, remote/hybrid trials readily allow for the use of centralized raters to administer and score the scales. The use of centralized raters has many benefits, including reducing site burden; however, a specific impact on data quality has not yet been determined. Purpose: The current study has two aims: a) evaluate differences in data quality between administration of a standardized clinical interview completed by centralized raters compared to those completed by site raters and b) evaluate improvement in accuracy of scoring standardized developmental assessments when scored centrally compared to when scored by site raters. Methods: For aim 1, the Vineland-3, a widely used measure of adaptive functioning, was administered by site raters (n= 52) participating in one of four rare disease trials. The measure was also administered as part of two additional trials that utilized central raters (n=7). Each rater completed a comprehensive training program on the assessment. Following completion of the training, each clinician completed a Vineland-3 with a mock caregiver. Administrations were recorded and reviewed by a neuropsychologist for administration and scoring accuracy. Raters were able to certify for the trials after demonstrating an accurate administration of the scale. For site raters, 25% of each rater’s in-study administrations were reviewed by a neuropsychologist for accuracy of administration and scoring. For central raters, the first two administrations and every 10th administration were reviewed. Aim 2 evaluated the added benefit of centralized scoring on the accuracy of scoring of the Bayley-3, a comprehensive developmental assessment widely used in rare neurodevelopmental disorders trials. Bayley-3 administrations across four rare disease trials were centrally scored. For all administrations, the site rater who administered the Bayley-3 scored the scale, and a centralized rater reviewed the video recordings of the administrations and also scored the scales to confirm accuracy. Results: For aim 1, site raters completed 138 Vineland-3 administrations. Of the138 administrations, 53 administrations were reviewed by a neuropsychologist. Four of the administrations had errors that compromised the validity of the assessment. The central raters completed 180 Vineland-3 administrations, 38 administrations were reviewed, and none had significant errors. For aim 2, 68 administrations of the Bayley-3 were reviewed and scored by both a site rater and a centralized rater. Of these administrations, 25 had errors in scoring that were corrected by the central rater. Conclusion: In rare neurodevelopmental disorders trials, sample sizes are often small, so data quality is critical. The use of central raters inherently decreases site burden, but it also decreases rater variance, as illustrated by the small team of central raters (n=7) needed to conduct all of the assessments (n=180) in these trials compared to the number of site raters (n=53) required for even fewer assessments (n=138). In addition, the use of central raters dramatically improves the quality of scoring the assessments.

Keywords: neurodevelopmental disorders, clinical trials, rare disease, central raters, remote trials, decentralized trials

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Authors: Lydia Foucan, Laurent Larifla, Emmanuelle Durand, Christine Rambhojan, Veronique Dhennin, Jean-Marc Lacorte, Philippe Froguel, Amelie Bonnefond

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In the population of Guadeloupe Island (472,124 inhabitants and 80% of subjects of African descent), overweight and obesity were estimated at 23% and 9% respectively among children. High prevalence of diabetes has been reported (~10%) in the adult population. Nevertheless, no study has investigated the contribution of gene mutations to childhood obesity in this population. We aimed to investigate rare genetic mutations in genes involved in monogenic obesity or diabetes in obese Afro-Caribbean children from Guadeloupe Island using next-generation sequencing. The present investigation included unrelated obese children, from a previous study on overweight conducted in Guadeloupe Island in 2013. We sequenced coding regions of 59 genes involved in monogenic obesity or diabetes. A total of 25 obese schoolchildren (with Z-score of body mass index [BMI]: 2.0 to 2.8) were screened for rare mutations (non-synonymous, splice-site, or insertion/deletion) in 59 genes. Mean age of the study population was 12.4 ± 1.1 years. Seventeen children (68%) had insulin-resistance (HOMA-IR > 3.16). A family history of obesity (mother or father) was observed in eight children and three of the accompanying parent presented with type 2 diabetes. None of the children had gonadotrophic abnormality or mental retardation. We detected five rare heterozygous mutations, in four genes involved in monogenic obesity, in five different obese children: MC4R p.Ile301Thr and SIM1 p.Val326Thrfs*43 mutations which were pathogenic; SIM1 p.Ser343Pro and SH2B1 p.Pro90His mutations which were likely pathogenic; and NTRK2 p.Leu140Phe that was of uncertain significance. In parallel, we identified seven carriers of mutation in ABCC8 or KCNJ11 (involved in monogenic diabetes), which were of uncertain significance (KCNJ11 p.Val13Met, KCNJ11 p.Val151Met, ABCC8 p.Lys1521Asn and ABCC8 p.Ala625Val). Rare pathogenic or likely pathogenic mutations, linked to severe obesity were detected in more than 15% of this Afro-Caribbean population at high risk of obesity and type 2 diabetes.

Keywords: childhood obesity, MC4R, monogenic obesity, SIM1

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Authors: Yuncang Li, Cuie Wen

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Biodegradable metallic materials such as magnesium (Mg)-based alloys have attracted extensive interest for use as bone implant materials. However, the high biodegradation rate of existing Mg alloys in the physiological environment of human body leads to losing mechanical integrity before adequate bone healing and producing a large volume of hydrogen gas. Therefore, slowing down the biodegradation rate of Mg alloys is a critical task in developing new biodegradable Mg alloy implant materials. One of the most effective approaches to achieve this is to strategically design new Mg alloys with low biodegradation rate, excellent biocompatibility, and enhanced mechanical properties. Our research selected biocompatible and biofunctional alloying elements such as zirconium (Zr), strontium (Sr), and rare earth elements (REEs) to alloy Mg and has developed a new series of Mg-Zr-Sr-REEs alloys for biodegradable implant applications. Research results indicated that Sr and Zr additions could refine the grain size, decrease the biodegradation rate, and enhance the biological behaviors of the Mg alloys. The REE addition, such as holmium (Ho) and dysprosium (Dy) to Mg-Zr-Sr alloys resulted in enhanced mechanical strength and decreased biodegradation rate. In addition, Ho and Dy additions (≤ 5 wt.%) to Mg-Zr-Sr alloys led to enhancement of cell adhesion and proliferation of osteoblast cells on the Mg-Zr-Sr-Ho/Dy alloys.

Keywords: biocompatibility, magnesium, mechanical and biodegrade properties, rare earth elements

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Authors: Shazia Shamim, Pallavi Gautam

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The present study describes the presence of rare or endangered plants from Poonch Dist., which spread over 1674 Km sq. located between latitude 330 25' N to 340 01' N and longitude 730 58' E to 740 35' E forming a part of the Northwest Himalaya in Jammu and Kashmir state of India, with the aim of suggesting the strategy for the conservation and promotion of cultivation of rare and endangered medicinal plants, as well as developing traditional knowledge of medicinal plants. The main threats to biodiversity and ecosystem are overexploitation, global climate change, habitat loss, fragmentation, pollution, and invasion of alien species and disturbance of community structure. Surveys were carried out during 2015-2016 throughout the Poonch valley. During the field survey, various criteria of International Union for the conservation of nature for categorizing threatened plants, extent of occurrence, area of occupancy, probability of extinction, etc. were measured. The rarity of species was determined by field study, visual estimations, and literature. During the collection, it was observed that few rare and endangered species which were present in the study area, are also mentioned in the prescribed red data book of Indian plants, International Union for conservation of nature, list of threatened species and list of Botanical Survey of India presented by its Northern Regional Centre. The study was based on extensive surveys of the study area and then concluded by preparing a list of plant species occurring in different seasons, the photographs of all these plant species were collected. Actual threats to the population of a selected plant species in a given area were recorded by direct observation. The present paper provides information about 22 rare and endangered medicinal plant species belonging to 18 families that are used by the native of these areas. Information provided includes botanical name, family name, local name, habitat, part used, ethno medicinal uses and brief preparation of the reported plant species is presented in the present work.

Keywords: biodiversity, traditional knowledge, International Union for Conservation of Nature, Botanical Survery of India

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Authors: Xiaoyuan Chen

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Background: This study aimed to characterize the epidemiological and clinical features of five rare subtypes of hepatocellular carcinoma (HCC) and to create a competing risk nomogram for predicting cancer-specific survival. Methods: This study used the Surveillance, Epidemiology, and End Results database to analyze the clinicopathological data of 50,218 patients with classic HCC and five rare subtypes (ICD-O-3 Histology Code=8170/3-8175/3) between 2004 and 2018. The annual percent change (APC) was calculated using Joinpoint regression, and a nomogram was developed based on multivariable competing risk survival analyses. The prognostic performance of the nomogram was evaluated using the Akaike information criterion, Bayesian information criterion, C-index, calibration curve, and area under the receiver operating characteristic curve. Decision curve analysis was used to assess the clinical value of the models. Results: The incidence of scirrhous carcinoma showed a decreasing trend (APC=-6.8%, P=0.025), while the morbidity of other rare subtypes remained stable from 2004 to 2018. The incidence-based mortality plateau in all subtypes during the period. Clear cell carcinoma was the most common subtype (n=551, 1.1%), followed by fibrolamellar (n=241, 0.5%), scirrhous (n=82, 0.2%), spindle cell (n=61, 0.1%), and pleomorphic (n=17, ~0%) carcinomas. Patients with fibrolamellar carcinoma were younger and more likely to have non-cirrhotic liver and better prognoses. Scirrhous carcinoma shared almost the same macro clinical characteristics and outcomes as classic HCC. Clear cell carcinoma tended to occur in the Asia-Pacific elderly male population, and more than half of them were large HCC (Size>5cm). Sarcomatoid (including spindle cell and pleomorphic) carcinoma was associated with larger tumor size, poorer differentiation, and more dismal prognoses. The pathological subtype, T stage, M stage, surgery, alpha-fetoprotein, and cancer history were identified as independent predictors in patients with rare subtypes. The nomogram showed good calibration, discrimination, and net benefits in clinical practice. Conclusion: The rare subtypes of HCC had distinct clinicopathological features and biological behaviors compared with classic HCC. Our findings could provide a valuable reference for clinicians. The constructed nomogram could accurately predict prognoses, which is beneficial for individualized management.

Keywords: hepatocellular carcinoma, pathological subtype, fibrolamellar carcinoma, scirrhous carcinoma, clear cell carcinoma, spindle cell carcinoma, pleomorphic carcinoma

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Authors: R. Dubey, M. Sarwan, S. Singh

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We have investigated the phase transition pressure and associated volume collapse in Sm1– X EuX S alloy (0≤x≤1) which shows transition from discontinuous to continuous as x is reduced. The calculated results from present approach are in good agreement with experimental data available for the end point members (x=0 and x=1). The results for the alloy counter parts are also in fair agreement with experimental data generated from the vegard’s law. An improved interaction potential model has been developed which includes coulomb, three body interaction, polarizability effect and overlap repulsive interaction operative up to second neighbor ions. It is found that the inclusion of polarizability effect has improved our results.

Keywords: elastic constants, high pressure, phase transition, rare earth compound

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Authors: Sandra H. Fukurozaki, Andre L. N. Silva, Joao B. F. Neto, Fernando J. G. Landgraf

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Nowadays, the rare earth (RE) metals play an important role in emerging technologies that are crucial for the decarbonisation of the energy sector. Their unique properties have led to increasing clean energy applications, such as wind turbine generators, and hybrid and electric vehicles. Despite the substantial media coverage that has recently surrounded the mining and processing of rare earth metals, very little quantitative information is available concerning their subsequent life stages, especially related to the metallic production of didymium (Nd-Pr) in fluoride molten salt system. Here we investigate a gate to gate scale life cycle assessment (LCA) of the didymium electrolysis based on three different scenarios of operational conditions. The product system is modeled with SimaPro Analyst 8.0.2 software, and IMPACT 2002+ was applied as an impact assessment tool. In order to develop a life cycle inventories built in software databases, patents, and other published sources together with energy/mass balance were utilized. Analysis indicates that from the 14 midpoint impact categories evaluated, the global warming potential (GWP) is the main contributors to the total environmental burden, ranging from 2.7E2 to 3.2E2 kg CO2eq/kg Nd-Pr. At the damage step assessment, the results suggest that slight changes in materials flows associated with enhancement of current efficiency (between 2.5% and 5%), could lead a reduction up to 12% and 15% of human health and climate change damage, respectively. Additionally, this paper highlights the knowledge gaps and future research efforts needing to understand the environmental impacts of Nd-Pr electrolysis process from the life cycle perspective.

Keywords: didymium electrolysis, environmental impacts, life cycle assessment, rare earth metals

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Authors: Jin-Feng Hu

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Over the past decades, the global biodiversity has continued to decline. The threats to the terrestrial plant species have increased under anthropogenic activities and other massive ecological change impacts. The situation is much more serious in China, the third richest countries regarding plant biodiversity in the world. It was not until 1992 that the first volume of the China Plant Red Data Book was published. Nowadays, a significant number of Chinese endemic plants have been threatened (The IUCN Red List). Nevertheless, plant-originated natural products (NPs) have continued to play a crucial role in the drug discovery and development process. The opportunity for identifying new chemical entities for emerging and malignant diseases depends on a diversity of drug-producing species. Several statistical surveys unveiled that the rare and endangered plants (REPs) have proven to be better sources for drug discovery than other botanic sources. The identification of bioactive NPs from REPs reveals the importance of conservation efforts in preventing species diversity loss and addressing human diseases at the same time. Thus, there is an urgent need to investigate these fragile REPs. Since 2013, our group has initially launched a special program to systematically identify bioactive/novel NPs from REPs native to China. The selected plant species were generally collected from the remote Mountain areas, and have never been chemically or pharmacologically investigated. Due to the difficult collection of the mass-limited samples of REPs, studies on the secondary metabolites of REPs-associated endophytes would provide a promising alternative potential solution. This presentation details the achievements that related to a series of “Phytochemical and biological studies on rare and endangered plants endemic to China”.

Keywords: bioactive naturally-occrring compounds, rare and endengered plants (REPs), plant endophytes, drug discovery

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Authors: Muhammad Faisal Khilji, Rana Shoaib Hamid

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Subdural hematoma (SDH) is an extremely rare complication of immune thrombocytopenic purpura (ITP). We present a case of a 34 years old female who presented to the Emergency department of a tertiary care hospital with complaints of headache, on and off gums bleeding and upper respiratory tract symptoms for the last two weeks. Examination was unremarkable except some purpura over limbs. Investigations revealed zero platelets and peripheral film suggestive of ITP. Computerized tomography (CT) brain revealed bilateral SDH in the frontal areas extending into Falx cerebri. Impression of ITP with SDH was made. Patient was treated with intravenous immunoglobulin (IVIg), methyl prednisolone and initial Platelets transfusion. Patient recovered uneventfully with platelets reaching normal levels within a few days and resolution of SDH without surgery.

Keywords: headache, immune thrombocytopenia, purpura, subdural hematoma

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Authors: Junnile Romero, Ilhwan Park, Vannie Joy Resabal, Carlito Tabelin, Richard Alorro, Leaniel Silva, Joshua Zoleta, Takunda Mandu, Kosei Aikawa, Mayumi Ito, Naoki Hiroyoshi

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Rare earth elements (REE) play a vital role in technological advancement due to their unique physical and chemical properties essential for various renewable energy applications. However, this increasing demand represents a challenging task for sustainability that corresponds to various research interests relating to the development of various extraction techniques, particularly on the extractant being used. In this study, TK221 (a modified polymer resin containing diglycolamide, carbamoyl methyl phosphine oxide (CMPO), and diglycolamide (DGA-N)) has been investigated as a conjugate extractant. FTIR and SEM analysis results confirmed the presence of CMPO and DGA-N being coated onto the PS-DVB support of TK221. Moreover, the kinetic rate law and adsorption isotherm batch test was investigated to understand the corresponding adsorption mechanism. The results show that REEs’ (Nd, Y, Ce, and Er) obtained pseudo-second-order kinetics and Langmuir isotherm, suggesting that the adsorption mechanism undergoes a single monolayer adsorption site via a chemisorption process. The Qmax values of Nd, Ce, Er, Y, and Fe were 45.249 mg/g, 43.103 mg/g, 35.088 mg/g, 15.552 mg/g, and 12.315 mg/g, respectively. This research further suggests that TK221 polymer resin can be used as an alternative absorbent material for an effective REE extraction.

Keywords: rare earth element, diglycolamide, characterization, extraction resin

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Authors: Ramuel Spirituel Mattathiah A. San Juan, Neil Ambasing

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Background: Reversal of vision metamorphopsia is a transient form of metamorphopsia described as an upside-down alteration of the visual field in the coronal plane. Patients would describe objects, such as cups, upside down, but the tea would not spill, and people would walk on their heads. It is extremely rare as a stable finding, lasting days or weeks. We report a case wherein this type of metamorphopsia occurred only in written words and lasted for six months. Objective: To the best of our knowledge, we report the first rare occurrence of reversal of vision metamorphopsia described as inverted words as the sole initial presentation of an underlying stroke. Case Presentation: We report a 59-year-old male with poorly controlled hypertension and diabetes mellitus who presented with a 3-day history of difficulty reading, described as the words were turned upside down as if the words were inverted horizontally then with the progression of deficits such as right homonymous hemianopia and achromatopsia, prosopagnosia. Cranial magnetic resonance imaging (MRI) revealed an acute infarct on the left posterior cerebral artery territory. Follow-up after six months revealed improvement of the visual field cut but with the persistence of the higher cortical function deficits. Conclusion: We report the first rare occurrence of metamorphopsia described as purely inverted words as the sole initial presentation of an underlying stroke. The differential diagnoses of a patient presenting with text reversal metamorphopsia should include stroke in the occipitotemporal areas. It further expands the landscape of metamorphopsias due to its exclusivity to written words and prolonged duration. Knowing these clinical features will help identify the lesion locus and improve subsequent stroke care, especially in time-bound management like intravenous thrombolysis.

Keywords: rare presentation, text reversal metamorphopsia, ischemic stroke, stroke

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Authors: Veronique Jubera, Guillaume Salek, Manuel Gaudon, Alain Garcia, Alain Demourgues

Abstract:

Luminescence of transition metal and rare earth elements cover ultraviolet to far infrared wavelengths. Applications of phosphors are numerous. One can cite lighting, sensing, laser, energy, medical or military applications. But regarding each domain, specific criteria are required and they can be achieved with a strong control of the chemical composition. Emission of doped materials can be tailored with modifications of the local environment of the cations. For instance, the increase of the crystal field effect shifts the divalent manganese radiative transitions from the green to the red color. External factor as heat-treatment can induce changes of the doping element location or modify the unit cell crystalline symmetry. By controlling carefully the synthesis route, it is possible to initiate emission shift and to establish the thermal history of a compound. We propose to demonstrate through the luminescence of divalent manganese and trivalent rare earth doped oxide, that it is possible to follow the thermal history of a material. After optimization of the synthesis route, structural and optical properties are discussed. Finally, thermal calibration graphs are successfully established on these doped compounds. This makes these materials promising probe for thermal sensing.

Keywords: emission, thermal sensing, transition metal, rare eath element

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Authors: M. Ridwanul Hassan, Samuel George

Abstract:

Aims: Steroid injections are commonly used as a diagnostic tool or an alternative to surgical management of carpal tunnel syndrome (CTS) and are generally safe. Ischaemia is a rare complication with very few cases reported in the literature. Methods: We report a case of a 50-year-old female that presented with a necrotic wound to her left palm one month after a steroid injection into the carpal tunnel. She had a 2-year history of CTS in her left hand that was treated with six previous steroid injections in primary care during this period. The wound evolved from a blister to a necrotic ulcer which led to a painful, hollow defect in the centre of her palm. She did not report any history of trauma, nor did she have any co-morbidities. Clinical photographs were taken. Results: On examination, she had a 0.5 cmx1 cm defect in the palm of her left hand down to aponeurosis. There was purulent discharge in the wound with surrounding erythema but no spreading cellulitis. She had full function of her fingers but was very tender on movements and at rest. She was admitted for intravenous antibiotics and underwent a debridement, washout, and carpal tunnel release the next day. The defect was packed to heal by secondary intention and has now fully healed one month following her operation. Conclusions: This is an extremely rare complication of steroid injections to the carpal tunnel and may have been avoided by earlier referral for surgery rather than treatment using multiple steroid injections.

Keywords: hand surgery, complication, rare, carpal tunnel syndrome

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Authors: Freda Halim

Abstract:

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: Aftab Ahmed, Ghulam Mehboob

Abstract:

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: Seema Vaidya

Abstract:

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

Abstract:

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: Gabriel Hunduma

Abstract:

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

Abstract:

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: Sudheer Moorkoth, Leslie Edward Lewis, Pragna Rao

Abstract:

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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