Search results for: rare presentation
2057 Acute Peritonitis Caused by Perforated Appendicitis Accompanied by Synchronous Encephalopathy: A Rare Primary Presentation of Varicella Zoster Infection
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
Procedia PDF Downloads 602056 A Rare Atypical Presentation of Iichthyosis Follicularis, Alopecia, and Photophobia Syndrome
Authors: D. R. Apoorva
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Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare oculocutaneous disorder of genetic origin. This disorder results from mutations in the membrane-bound transcription factor protease site, two genes that impair cholesterol homeostasis, and the ability to cope with endoplasmic reticulum stress. We report a rare case of IFAP syndrome with an atypical presentation, and it was interesting to note that the child had patchy non-scarring alopecia over the scalp along with unilateral madarosis. To our best knowledge, this unique presentation has not been described earlier. The child presented with photophobia and unilateral ptosis. The child also had short stature and intellectual disability. Skin histopathology was nonspecific and consisted of dilated hair follicles with keratin plugs extending above the skin surface. This rare oculocutaneous disorder requires proper documentation so that identification of its variants may be possible in the future. Early recognition of atypical presentations can help in preventing cardiovascular complications, which remain the major cause of death.Keywords: alopecia, photophobia, ichthyosis follicularis, IFAP syndrome
Procedia PDF Downloads 792055 Juvenile Paget’s Disease(JPD) of Bone
Authors: Aftab Ahmed, Ghulam Mehboob
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The object of presentation is to highlight the importance of condition which is a very rare genetic disorder although Paget’s disease is common but its juvenile type is very rare and a late presentation due to very slow onset and lack of earlier standard management. We present a case of 25 years old male with a chronic history of bone pain and a slow onset of mild swelling, later on diagnosed as juvenile Paget disease of bone. Rarity of this condition with inaccessibility for standard health treatment can lead to a significant delay in presentation and its management. There have been 50 reported cases worldwide according to Genetic Home Reference. There is increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very significant which lead children to become immobilize.Keywords: juvenile, Paget’s disease, bone, Northern Area of Pakistan
Procedia PDF Downloads 3292054 Upside Down Words as Initial Clinical Presentation of an Underlying Acute Ischemic Stroke
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
Procedia PDF Downloads 642053 Rare Case of Pyoderma Gangrenosum of the Upper Limb
Authors: Karissa A. Graham
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Pyoderma gangrenosum (PG) is a prototypic autoinflammatory neutrophilic dermatosis that is a rare disorder. It presents a diagnostic challenge owing to its variable presentation, clinical overlap with other conditions, it is often associated with other systemic conditions, and there is no definitive histological or laboratory characteristic. The Delphai consensus for PG includes the presence of at least one ulcer on the anterior lower limb. Systemic corticosteroids and immunosuppressive therapies are the mainstay treatment for PG. We describe a case report of delayed diagnosis of ulcerative pyoderma gangrenosum in a 44-year-old male on his forearm. The patient presented with an infected ulcer on his right forearm that had been present for over three years. The patient was a Type 2 Diabetic with no personal or family history of inflammatory bowel disease or other autoimmune diseases. The patient was initially investigated for malignancy, but biopsies returned as chronic inflammatory tissue with neutrophilic infiltrate and no malignancy. The patient was commenced on systemic prednisone for the treatment of pyoderma gangrenosum. The diagnosis of ulcerative PG poses a challenge given the vast differential diagnosis for a cutaneous ulcer (i.e., malignant, vascular, autoimmune, trauma, infective, etc.). Diagnostic accuracy is important given that the treatment for PG with steroids does not go without risks and indeed may be contraindicated in other potential causes of the ulcer. Indeed, more common and more sinister causes of ulcers should be investigated first, as death from PG is quite rare.Keywords: dermatological diagnosis, dermatosis, pyoderma gangrenosum, rare presentation
Procedia PDF Downloads 922052 Cerebral Venous Thrombosis at High Altitude: A Rare Presentation by Sub-Arachnoid Hemorrhage
Authors: Eman G. Alayad, Mazen G. Aleyad, Mohammed Alshahrani, Ibrahim Alnaami
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Introduction: Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease that can occur at any age. Patients with CVT commonly present with headache, focal neurological deficit, decreased level of consciousness and seizures. Many etiologic risk factors have been reported for CVT, high altitude and oral contraceptive pill some of them. Case Presentation: A 37-year-old woman living in Abha city in the southeastern area of Saudi Arabia. (about 10,000 feet-3000 m) over the sea. complaining acute onset of severe diffuse headache and generalized tonic clonic convulsions. Followed by loss of consciousness. She was on contraceptive pills for the last 3 years. No significant Medical or surgical history. Brain CT revealed subarachnoid hemorrhage, with MRI findings showing thrombosis in transvers sinus. There was no vascular malformations such as aneurysm, arteriovenous malformation (AVM), or dural arteriovenous fistula. A CVT with subarachnoid hemorrhage was our final diagnosis based on clinical presentation and radiographic findings. Discussion: Patients with CVT had evidence of cortical SAH by 10 of 233, others found 3% of SAH was caused by CVT, indicating that the presence of cortical SAH without involvement of the basal cisterns may provide an early sign of underlying CVT. However, what is more interesting in this case, is the relationship of high altitude with CVT and SAH, which previously undescribed. Conclusion: High-altitude climbing per se was described as a risk factor for the development of CVT, though its occurrence was probably rare. Whether it is primary in etiology due to high altitude induced hypercoagulable state of unknown origin or due to cerebrovascular disturbances there is a need for further investigation especially at this unusual presentation of subarachnoid hemorrhage.Keywords: cerebral venous thrombosis, high-altitude, subarachnoid hemorrhage, stroke
Procedia PDF Downloads 2562051 A Rare Case of Popliteal Artery Aneurysm Presenting with Foot Drop
Authors: John Yahng, Riteesh Bookun
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Popliteal artery aneurysms (PAAs) are the most common arterial aneurysm of the periphery. It is defined as focal dilation of the artery more than 50% of the normal vessel diameter which usually varies between 7 mm to 11 mm. The most common presentation for PAAs is claudication due to luminal stenmosis secondary to mural thrombus or acute limb ischaemia due to occlusive thrombosis or distal thromboembolism. It is less common for patients to present with non-ischaemic symptoms secondary to mass effect and compression of adjacent structures, and of these, presentation with common peroneal nerve compression is particularly uncommon. We present a rare case of a 92-year-old female patient presenting with 4-month history of left foot drop with radiological evidence of common peroneal nerve compression secondary to PAA of 22 mm by21mm in size. To the best of our knowledge, this is the smallest reported popliteal aneurysm presenting with foot drop. We also present the endovascular treatment option taken in our case.Keywords: aneurysm, foot drop, peroneal nerve, popliteal
Procedia PDF Downloads 3012050 Case Report: A Rare Case of Popliteal Artery Aneurysm Presenting with Foot Drop
Authors: John Yahng, Hansraj Riteesh Bookun
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Popliteal artery aneurysms (PAAs) are the most common arterial aneurysm of the periphery. It is defined as focal dilation of the artery more than 50% of the normal vessel diameter which usually varies between 7 mm to 11 mm. The most common presentation for PAAs is claudication due to luminal stenosis secondary to mural thrombus or acute limb ischaemia due to occlusive thrombosis or distal thromboembolism. It is less common for patients to present with non-ischaemic symptoms secondary to mass effect and compression of adjacent structures, and of these, presentation with common peroneal nerve compression is particularly uncommon. We present a rare case of a 92-year-old female patient presenting with 4-month history of left foot drop with radiological evidence of common peroneal nerve compression secondary to PAA of 22 mm by 21mm in size. To the best of our knowledge, this is the smallest reported popliteal aneurysm presenting with foot drop. We also present the endovascular treatment option taken in our case.Keywords: aneurysm, foot drop, peroneal nerve, popliteal
Procedia PDF Downloads 4042049 The Association of Cone-Shaped Epiphysis and Poland Syndrome: A Case Report
Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani
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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis
Procedia PDF Downloads 1302048 Emerging Policy Landscape of Rare Disease Registries in India: An Analysis in Evolutionary Policy Perspective
Authors: Yadav Shyamjeet Maniram
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Despite reports of more than seventy million population of India affected by rare diseases, it rarely figured on the agenda of the Indian scientist and policymakers. Hitherto ignored, a fresh initiative is being attempted to establish the first national registry for rare diseases. Though there are registries for rare diseases, established by the clinicians and patient advocacy groups, they are isolated, scattered and lacks information sharing mechanism. It is the first time that there is an effort from the government of India to make an initiative on the rare disease registries, which would be more formal and systemic in nature. Since there is lack of epidemiological evidence for the rare disease in India, it is interesting to note how rare disease policy is being attempted in the vacuum of evidence required for the policy process. The objective of this study is to analyse rare disease registry creation and implementation from the parameters of evolutionary policy perspective in the absence of evidence for the policy process. This study will be exploratory and qualitative in nature, primarily based on the interviews of stakeholders involved in the rare disease registry creation and implementation. Some secondary data will include various documents related to rare disease registry. The expected outcome of this study would be on the role of stakeholders in the generation of evidence for the rare disease registry creation and implementation. This study will also try to capture negotiations and deliberations on the ethical issues in terms of data collection, preservation, and protection.Keywords: evolutionary policy perspective, evidence for policy, rare disease policy, rare disease in India
Procedia PDF Downloads 2072047 Methods of Post-Mining Landscape Reclamation and Their Impact on Occurrence Hymenoptera: Aculeata and Lepidoptera
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
Procedia PDF Downloads 1172046 “Presently”: A Personal Trainer App to Self-Train and Improve Presentation Skills
Authors: Shyam Mehraaj, Samanthi E. R. Siriwardana, Shehara A. K. G. H., Wanigasinghe N. T., Wandana R. A. K., Wedage C. V.
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A presentation is a critical tool for conveying not just spoken information but also a wide spectrum of human emotions. The single most effective thing to make the presentation successful is to practice it beforehand. Preparing for a presentation has been shown to be essential for improving emotional control, intonation and prosody, pronunciation, and vocabulary, as well as the quality of the presentation slides. As a result, practicing has become one of the most critical parts of giving a good presentation. In this research, the main focus is to analyze the audio, video, and slides of the presentation uploaded by the presenters. This proposed solution is based on the Natural Language Processing and Computer Vision techniques to cater to the requirement for the presenter to do a presentation beforehand using a mobile responsive web application. The proposed system will assist in practicing the presentation beforehand by identifying the presenters’ emotions, body language, tonality, prosody, pronunciations and vocabulary, and presentation slides quality. Overall, the system will give a rating and feedback to the presenter about the performance so that the presenters’ can improve their presentation skills.Keywords: presentation, self-evaluation, natural learning processing, computer vision
Procedia PDF Downloads 1182045 Thermodynamic Properties of Binary Gold-Rare Earth Compounds (Au-RE)
Authors: H. Krarchaa, A. Ferroudj
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This work presents the results of thermodynamic properties of intermetallic rare earth-gold compounds at different stoichiometric structures. It mentions the existence of the AuRE AuRE2, Au2RE, Au51RE14, Au6RE, Au3RE and Au4RE phases in the majority of Au-RE phase diagrams. It's observed that equiatomic composition is a common compound for all gold rare earth alloys and it has the highest melting temperature. Enthalpies of the formation of studied compounds are calculated based on a new reformulation of Miedema’s model.Keywords: rare earth element, enthalpy of formation, thermodynamic properties, macroscopic model
Procedia PDF Downloads 252044 Fused Salt Electrolysis of Rare-Earth Materials from the Domestic Ore and Preparation of Rare-Earth Hydrogen Storage Alloys
Authors: Jeong-Hyun Yoo, Hanjung Kwon, Sung-Wook Cho
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Fused salt electrolysis was studied to make the high purity rare-earth metals using domestic rare-earth ore. The target metals of the fused salt electrolysis were Mm (Misch metal), La, Ce, Nd, etc. Fused salt electrolysis was performed with the supporting salt such as chloride and fluoride at the various temperatures and ampere. The metals made by fused salt electrolysis were analyzed to identify the phase and composition using the methods of XRD and ICP. As a result, the acquired rare-earth metals were the high purity ones which had more than 99% purity. Also, VIM (vacuum induction melting) was studied to make the kg level rare-earth alloy for the use of secondary battery and hydrogen storage. In order to indentify the physicochemical properties such as phase, impurity gas, alloy composition and hydrogen storage, the alloys were investigated. The battery characteristics were also analyzed through the various tests in the real production line of a battery company.Keywords: domestic rare-earth ore, fused salt electrolysis, rare-earth materials, hydrogen storage alloy, secondary battery
Procedia PDF Downloads 5332043 Pilomatrixoma of the Left Infra-Orbital Region in a 9 Year Old
Authors: Zainab Shaikh, Yusuf Miyanji
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Pilomatrixoma is a benign neoplasm of the hair follicle matrix that is not commonly diagnosed in general practice. This is a case report of a 9-year-old boy who presented with a one-year history of a 19mm x 11 mm swelling in the left infra-orbital region. This was previously undiagnosed in Spain, where the patient resided at the time of initial presentation, due to the language barrier the patient’s family encountered. An ultrasound and magnetic resonance imaging gave useful information regarding surrounding structures for complete tumor excision and indicated that the risk of facial nerve palsy is low. The lesion was surgically excised and a definitive diagnosis was made after histopathology. Pilomatrixoma, although not rare in its occurrence, is rarely this large at the time of excision due to early presentation. This case highlights the importance of including pilomatrixoma in the differential diagnosis of dermal and subcutaneous lesions in the head and neck region, as it is often misdiagnosed due to the lack of awareness of its clinical presentation.Keywords: pilomatrixoma, swelling, infra-orbital, facial swelling
Procedia PDF Downloads 1462042 Unusual Presentation of Colorectal Cancer within Inguinal Hernia: A Systemic Review of Reported Cases
Authors: Sena Park
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Background: The concurrent presentation with colorectal cancer in the inguinal hernia has been extremely rare. Due to its rarity, its presentation may lead to diagnostic and therapeutic dilemmas. We aim to review all the reported cases on colorectal cancer incarcerated in the inguinal hernia in the last 20 years, and discuss the operative approaches. Methods: We identified all case reports on colorectal cancer within inguinal hernia using PUBMED (2002-2022) and MEDLINE (2002-2022). The search strategy included the following keywords: colorectal cancer (title/abstract) AND inguinal hernia (title/abstract) OR incarceration (title/abstract). The search did not include letters, book chapters, systemic reviews, meta-analysis and editorials. Results: In the last 20 years, a total of 19 cases on colorectal cancer within the inguinal hernia were identified. The age of the patients ranged between 48 and 89. Majority of the patients were male (95%). Most commonly involved part of the large intestine was sigmoid colon (79%). Of all the cases, 79 percent of patients received open procedure and 21 percent had laparoscopic procedure. Discussion: Inguinal hernias are common with an incidence of approximately 1.7 percent. Colorectal cancer is the one of the leading causes of cancer-related mortality worldwide. However, their concurrent presentation has been extremely rare. In the last 20 years, 19 cases on concurrent presentation of colorectal cancer and inguinal hernia have been reported. Most patients who had open procedures had two incisions of groin incision and a midline laparotomy. There were 4 cases where the oncological resection was performed laparoscopically. The advantages of laparoscopic resection include reduced blood lost, reduced post-operative pain, reduced length of hospital stay and similar number of lymph nodes taken. From the review of the cases in the last 20 years, both open and laparoscopic approaches seemed to be safe and achieve adequate oncological resections. Conclusion: This is a brief overview of reported cases of colorectal cancer presenting with inguinal hernia concurrently. Due to its rarity, there are no current guidelines on operative approach in clinical practice. The experience in the last 20 years supports both open and laparoscopic approach.Keywords: colorectal cancer, inguinal hernia, incarceration, operative approach
Procedia PDF Downloads 1012041 The Quality of the Presentation Influence the Audience Perceptions
Authors: Gilang Maulana, Dhika Rahma Qomariah, Yasin Fadil
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Purpose: This research meant to measure the magnitude of the influence of the quality of the presentation to the targeted audience perception in catching information presentation. Design/Methodology/Approach: This research uses a quantitative research method. The kind of data that uses in this research is the primary data. The population in this research are students the economics faculty of Semarang State University. The sampling techniques uses in this research is purposive sampling. The retrieving data uses questionnaire on 30 respondents. The data analysis uses descriptive analysis. Result: The quality of presentation influential positive against perception of the audience. This proved that the more qualified presentation will increase the perception of the audience. Limitation: Respondents were limited to only 30 people.Keywords: quality of presentation, presentation, audience, perception, semarang state university
Procedia PDF Downloads 3932040 Separation of Rare-Earth Metals from E-Wastes
Authors: Gulsara Akanova, Akmaral Ismailova, Duisek Kamysbayev
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The separation of rare earth metals (REM) from a neodymium magnet has been widely studied in the last year. The waste of computer hard disk contains 25.41 % neodymium, 64.09 % iron, and <<1 % boron. To further the separation of rare-earth metals, the magnet dissolved in open and closed systems with nitric acid. In the closed system, the magnet was dissolved in a microwave sample preparation system at different temperatures and pressures and the dissolution process lasted 1 hour. In the open system, the acid dissolution of the magnet was conducted at room temperature and the process lasted 30-40 minutes. To remove the iron in the magnet, oxalic acid was used and precipitated as oxalates under both conditions. For separation of rare earth metals (Nd, Pr and Dy) from magnet waste is used sorption method.Keywords: dissolution of the magnet, Neodymium magnet, rare earth metals, separation, Sorption
Procedia PDF Downloads 2092039 Affirming Students’ Attention and Perceptions on Prezi Presentation via Eye Tracking System
Authors: Mona Masood, Norshazlina Shaik Othman
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The purpose of this study was to investigate graduate students’ visual attention and perceptions of a Prezi presentation. Ten post-graduate master students were presented with a Prezi presentation at the Centre for Instructional Technology and Multimedia, Universiti Sains Malaysia (USM). The eye movement indicators such as dwell time, average fixation on the areas of interests, heat maps and focus maps were abstracted to indicate the students’ visual attention. Descriptive statistics was employed to analyze the students’ perception of the Prezi presentation in terms of text, slide design, images, layout and overall presentation. The result revealed that the students paid more attention to the text followed by the images and sub heading presented through the Prezi presentation.Keywords: eye tracking, Prezi, visual attention, visual perception
Procedia PDF Downloads 4432038 Metastatic Papillary Thyroid Carcinoma in Pleural Effusion- A Very Rare Case
Authors: Mohammed A. Abutalib
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Papillary thyroid carcinoma (PTC) accounts for the most common type of thyroid cancer, a well-differentiated type. PTC is featured by biologically low-grade and less aggressive tumors with a survival rate of 10 years in most of the diagnosed cases. PTC can be presented with the involvement of cervical lymph nodes in about 50% of the patients, yet the distant spread is very uncommon. Herein, we discussed an early 50-year-old male patient with a history of PTC that presented to the emergency department complaining of shortness of breath and a radiological finding of hydrothorax. Cytologic examination, together with immune-histochemical staining and molecular studies of pleural effusion aspiration, concluded the definitive diagnosis of metastatic papillary thyroid carcinoma in the pleural space. PTC seldom causes metastatic niches in the pleural space, and this is a rare clinical presentation; nevertheless, a differential diagnosis of thyroid metastasis needs to be excluded.Keywords: thyroid cancer, malignant pleural effusion, cytology aspiration, papillary thyroid carcinoma
Procedia PDF Downloads 1052037 A Case of Osteopetrosis Diagnosed with Nystagmus
Authors: Zerrin Orbak, Busra Demir
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Osteopetrosis is a rare genetic disease characterized by impaired bone resorption and increased bone sclerosis. Clinical presentation is very different in osteopetrosis. It can be asymptomatic or can be seen with typical symptoms. Here, a case of osteopetrosis was presented when evaluated for nystagmus. She was 10 months old. Parents were second-degree relatives. On physical examination, pigeon chest deformity and horizontal nystagmus were observed. There was a failure of thrive but no fracture. The cardiovascular examination was normal. Cranial, vertebral and long bone roentgenograms revealed characteristic deformities of osteopetrosis and diffuse sclerosis. The diagnosis was confirmed by genetic testing. A Homozygous mutation was detected in the TNFRSF11A gene (c.508A>G p.(Arg170Gly)). RANKL is encoded by the tumor necrosis factor ligand superfamily member 11 (TNFSF11) gene, and the binding to its receptor RANK, encoded by the TNFRSF11A gene, determines the activation of the downstream pathway that drives osteoclast differentiation and activation (51). The complete absence of osteoclasts is the key feature of the osteoclast-poor form of osteopetrosis (46). Patients are characterized by the absence of TRAP-positive osteoclasts in bone biopsies. The osteoclast-poor subtype of osteopetrosis caused by mutations in TNFSF11 gene is ultra-rare in humans. Clinical presentation is usually severe, with onset in early infancy or in fetal life. But here, a case was presented with horizontal nystagmus. A case presented with horizontal nystagmus, which was evaluated by neurology and diagnosed incidentally, was shared.Keywords: osteopetrosis, nystagmus, bone, osteoclast-poor
Procedia PDF Downloads 882036 Cretinism Muscular Hypertrophy: An Unorthodox Reflection
Authors: Harim Mohsin, Afshan Channa, Beena Saad
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The Kocher Debre Semelaigne Syndrome (KDSS) is known as cretinism muscular hypertrophy. It is an unusual presentation in intellectually deficit children, commonly associated with congenital or iatrogenic hypothyroidism. The creatinine phosphokinase (CPK) is usually elevated and it’s commonly found in males, consanguineous marriage and ages 18 months to 10 years. It might be misdiagnosed without the classical features of hypothyroidism at first presentation. We present a case of 15 year old intellectually deficit female with epilepsy managed on phenytoin. She had rigidity, myxedema, calf muscle hypertrophy and agitation. The patient was managed as Neuroleptic Malignant Syndrome due to raised CPK of 40,680 IU/L and mixed presentation. Nevertheless, no improvement was noticed and thyroid profile was done to exclude alternative resources. Thyroid stimulating hormone (TSH) was 74.5 IU, Free T3 1.22 ng/dl, and Free T4 0.43 ng/dl. Thyroxine was started along with change in antiepileptic leading to recovery. This case report highlights the inconsistent finding of KDSS. The female gender, non-consanguineous marriage, delayed onset with primarily neuromuscular symptoms, and raised CPK is a rare demonstration in KDSS. Additionally, thyroid profile is not routinely done, which can lead to misdiagnosis and mismanagement.Keywords: cretinism, hypothyroidism, intellectual deficit, KDSS
Procedia PDF Downloads 3752035 Complicated Sinusitis with Sphenopalatine Artery Thrombosis in a Covid-19 Patient
Authors: Sara Mahmood, Omar Ahmed, Youssef Aladham, Moustafa Abdelnaby
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The varied complications of COVID-19 present an ongoing challenge to healthcare professionals. A rare presentation of complicated sinusitis with pre-septal cellulitis and hard palatal necrosis in a COVID-19 patient, was reported. A 52-year-old male was admitted to the hospital with typical COVID manifestations where he had two successive COVID-19 positive swabs. During his admission, he developed symptoms of right orbital complications of sinusitis along with both clinical and radiological evidence of ipsilateral hard palatal necrosis. Imaging confirmed a diagnosis of right pan-sinusitis complicated with right pre-septal infection and hard palatal bony defect on the same side. Intra-operatively, the sphenopalatine artery was found to be thrombosed. This case focuses on the possible association between these manifestations and the known thromboembolic complications of COVID-19. Ongoing management of such complicated rare cases should be through a multidisciplinary team.Keywords: COVID-19, sinusitis, sphenopalatine artery, thrombosis
Procedia PDF Downloads 1812034 Proficient Estimation Procedure for a Rare Sensitive Attribute Using Poisson Distribution
Authors: S. Suman, G. N. Singh
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The present manuscript addresses the estimation procedure of population parameter using Poisson probability distribution when characteristic under study possesses a rare sensitive attribute. The generalized form of unrelated randomized response model is suggested in order to acquire the truthful responses from respondents. The resultant estimators have been proposed for two situations when the information on an unrelated rare non-sensitive characteristic is known as well as unknown. The properties of the proposed estimators are derived, and the measure of confidentiality of respondent is also suggested for respondents. Empirical studies are carried out in the support of discussed theory.Keywords: Poisson distribution, randomized response model, rare sensitive attribute, non-sensitive attribute
Procedia PDF Downloads 2682033 Black Swans Public Administration and Informatics
Authors: Anastasis Petrou
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Black Swan Theories (BSTs) have existed since the 2nd Century BC. However, problematisation in the interdisciplinary field of Public Administration and Informatics (PA&I) about the impact of Black Swans as rare events in Society is a more recent phenomenon but with a growing, although dispersed, body of research literature. This paper offers a synopsis of core issues and questions raised in PA&I literature about the impacts of rare events in Society, the need for knowledge accumulation and explainability processes about rare events and asks what could help explain the occurrence, severity, heterogeneity, overall impact of Black Swans and the challenges they represent to established scientific methods. The second part of the paper considers how the use of Artificial Intelligence (AI) could assist researchers in better explaining rare events in PA&I. However, the research shows that whilst AI use at the start of knowledge accumulation and explainability processes about rare events is beneficial it is also fraught with challenges discussed herein. The paper concludes with recommendations for future research.Keywords: black swans, public administration, AI, informatics
Procedia PDF Downloads 232032 A Rare Case of Acquired Benign Tracheoesophageal Fistula: Case Report and Literature Review
Authors: Sarah Bouayyad, Ajay Nigam, Meera Beena
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Acquired benign tracheoesophageal fistula is a rare medical condition that usually results from trauma, foreign bodies, or granulomatous infections. This is an unusual presentation of a male patient with a history of laryngectomy who had had over a period of several years inappropriately and vigorously used valve cleaning brushes to clean tracheal secretions, which had led to the formation of a tracheoesophageal fistula. Due to the patient’s obsessive habit, we couldn’t manage him using conventional surgical methods. Instead, we opted for the placement of a salivary bypass tube, which yielded good results and recovery. To the best of our knowledge, no other case of similar etiology has been published. We would like to highlight the importance of appropriate patient selection and education prior to performing a tracheoesophageal puncture to avoid developing life-threatening complications as demonstrated in our case report.Keywords: tracheoesophageal fistula, speech valve, endoscopic insertion of salivary bypass tube, head and neck malignancies
Procedia PDF Downloads 1262031 Umbilical Epidermal Inclusion Cysts, a Rare Cause of Umbilical Mass: A Case Report and Review of Literature
Authors: Christine Li, Amanda Robertson
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Epidermal inclusion cysts occur when epidermal cells are implanted in the dermis following trauma, or surgery. They are a rare cause of an umbilical mass, with very few cases previously reported following abdominal surgery. These lesions can present with a range of symptoms, including palpable mass, pain, redness, or discharge. This paper reports a case of an umbilical epidermal inclusion cyst in a 52-year-old female presenting with a six-week history of a painful, red umbilical lump on a background of two previous diagnostic laparoscopies. Abdominal computed tomography (CT) scans revealed non-specific soft tissue thickening in the umbilical region. This was successfully treated with complete excision of the lesion. Umbilical lumps are a common presentation but can represent a diagnostic challenge. The differential diagnosis should include an epidermal inclusion cyst, particularly in a patient who has had previous abdominal surgery, including laparoscopic surgery.Keywords: epidermal inclusion cyst, laparoscopy, umbilical mass, umbilicus
Procedia PDF Downloads 852030 Case Report: Massive Deep Venous Thrombosis in a Young Female: A Rare and Fatal Presentation of May-Thurner Syndrome
Authors: Mahmoud Eldeeb, Yousri Mohamed
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Background: May-Thurner Syndrome (MTS) is a rare vascular condition caused by the compression of the left common iliac vein by the overlying right common iliac artery, leading to venous stasis and an increased risk of deep vein thrombosis (DVT). While MTS typically presents in young adults, its diagnosis is often delayed due to its nonspecific presentation, which can lead to catastrophic complications like massive pulmonary embolism (PE). Early recognition and intervention are paramount to prevent fatal outcomes. Objectives: Highlight the importance of early recognition and management of critically ill patients presenting with life- and limb-threatening conditions. Raise awareness of May-Thurner Syndrome as a rare but significant cause of extensive DVT in young adults. Emphasize the necessity of a multidisciplinary approach to managing complex vascular emergencies. Methodology: A 21-year-old female presented with a 7-day history of progressive left leg swelling, pain, and skin discoloration following immobilization due to gastroenteritis. Clinical suspicion for massive DVT and compartment syndrome prompted immediate initiation of a heparin bolus and referrals to vascular and orthopedic surgery teams. Bedside Doppler ultrasound confirmed extensive DVT, and subsequent CT venography revealed thrombi extending to the inferior vena cava, consistent with MTS. Despite anticoagulation therapy, angioplasty and stenting were required to restore venous patency. Tragically, the patient experienced a massive PE during the procedure, requiring cardiopulmonary resuscitation (CPR) and transfer to a tertiary center for cardiothoracic intervention. Results: The case highlights the aggressive and life-threatening progression of MTS. The patient’s presentation was characterized by massive DVT with severe pain and discoloration, rapidly culminating in a PE during intervention. The combination of bedside imaging and CT venography facilitated an accurate diagnosis. Despite timely management, the patient’s course underscores the high mortality risk associated with MTS-related thromboembolism. Conclusion: May-Thurner Syndrome, though rare, can lead to devastating complications in young adults if not promptly recognized and treated. This case emphasizes the need for a high index of suspicion in patients presenting with unexplained extensive DVT, especially in the context of limited mobility or other precipitating factors. Multidisciplinary collaboration, including vascular imaging, anticoagulation, and interventional procedures, is critical to optimize outcomes. Urgent recognition and treatment of MTS are vital to prevent progression to massive PE and death.Keywords: may-thurner syndrome, deep venous thrombosis, pulmonary embolism, vascular emergency, iliac vein compression syndrome
Procedia PDF Downloads 112029 Flotation of Rare Earth Oxides from Iron-Oxide Silicate Rich Tailings Using Fatty Acids
Authors: George B. Abaka-Wood, Massimiliano Zanin, Jonas Addai-Mensah, William Skinner
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The versatility of froth flotation has made it vital in the beneficiation of rare earth elements minerals from either high or low-grade ores. There has been a significant increase in the quantity of iron oxide silicate-rich tailings generated from the extraction of primary commodities such as copper and gold in Australia, which have been identified to contain very low-grade rare earth oxides (≤ 1%). There is a vast knowledge gap in the beneficiation of rare earth oxides from such tailings. The aim of this research is to investigate the feasibility of using fatty acids as collectors for the flotation recovery and upgrade of rare earth oxides from selected iron-oxide silicate-rich tailings. Two forms of fatty acid collectors (oleic acid and sodium oleate) were tested in this investigation. Flotation tests were carried out using a 1.2 L Denver D-12 cell. The effects of pulp pH, fatty acid dosage, particle size distribution (-150 +75 µm, -75 +38 µm and -38 µm) and conventional depressants (sodium silicate and starch) dosage on flotation recovery of rare earth oxides were investigated. A comparison of the flotation results indicated that sodium oleate was the more efficient fatty acid for rare earth oxides flotation at all the pulp pH investigated. The flotation performance was found to be particle size-dependent. Both sodium silicate and starch were unselective in decreasing the recovery of iron oxides and silicate minerals, respectively with the corresponding decrease in rare earth oxides recovery. Generally, iron oxides and silicate minerals formed the substantial fraction of the flotation concentrates obtained, both in the absence and presence of depressants, resulting in a generally low rare earth oxides upgrade, even though rare earth oxides recoveries were high. The flotation tests carried out on the tailings sample suggest the feasibility of rare earth oxides recovery using fatty acids, although particle size distribution and minerals liberation are key limiting factors in achieving selective rare earth oxides upgrade.Keywords: depressants, flotation, oleic acid, sodium oleate
Procedia PDF Downloads 1892028 Rare Earth Element (REE) Geochemistry of Tepeköy Sandstones (Central Anatolia, Turkey)
Authors: Mehmet Yavuz Hüseyinca, Şuayip Küpeli
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Sandstones from Upper Eocene - Oligocene Tepeköy formation (Member of Mezgit Group) that exposed on the eastern edge of Tuz Gölü (Salt Lake) were analyzed for their rare earth element (REE) contents. Average concentrations of ΣREE, ΣLREE (Total light rare earth elements) and ΣHREE (Total heavy rare earth elements) were determined as 31.37, 26.47 and 4.55 ppm respectively. These values are lower than UCC (Upper continental crust) which indicates grain size and/or CaO dilution effect. The chondrite-normalized REE pattern is characterized by the average ratios of (La/Yb)cn = 6.20, (La/Sm)cn = 4.06, (Gd/Lu)cn = 1.10, Eu/Eu* = 0.99 and Ce/Ce* = 0.94. Lower values of ΣLREE/ΣHREE (Average 5.97) and (La/Yb)cn suggest lower fractionation of overall REE. Moreover (La/Sm)cn and (Gd/Lu)cn ratios define less inclined LREE and almost flat HREE pattern when compared with UCC. Almost no Ce anomaly (Ce/Ce*) emphasizes that REE were originated from terrigenous material. Also depleted LREE and no Eu anomaly (Eu/Eu*) suggest an undifferentiated mafic provenance for the sandstones.Keywords: central Anatolia, provenance, rare earth elements, REE, Tepeköy sandstone
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