Search results for: rare disease

Authors: Mohammed A. Abutalib

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

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

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Authors: Bernadett Henn, Katalin Tálos, Éva Kováss Széles

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

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

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Authors: Mona Nada, Fahmy Fahmy

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Background: Pleomorphic dermal sarcoma is a rare form of skin cancer affecting cutaneous layer and, in some cases associated with recurrence and metastasis, very commonly to seen in elderly patient affecting the area of head and neck. Pleomorphic dermal sarcoma rises in ultraviolet light exposed areas. The symptoms and severity of this kind of skin cancer varies according to histological factors. The differentiation of Pleomorphic dermal sarcoma needs extensive immunohistochemistry, as the diagnosis depends mainly on exclusion to rule out other malignancy like poorly differentiated squamous cell carcinoma, melanoma, angiosarcoma and leiomyosarcoma. Objective: assessing the management of Pleomorphic dermal sarcoma in our unit and compared to the updated guidelines. Design: Retrospective study Collection of patient data from medical records at countess of Chester plastic surgery unit of the last 5 years, all histologically confirmed Pleomorphic dermal sarcoma (2017-2023). Data were collected confirmed to be Pleomorphic dermal sarcoma were included in the study. The data collected: clinical description of the lesions at first presentation, operation time, multidisciplinary team discussion, plan, referral as well as second operation and investigation done. With comparison of histological examination, immunohistochemistry staining, the excision and rate of recurrence. Results: data collected N19 from (2017-2023) showed the disease predominantly affecting males and the lesion mainly in head and neck, the diagnosis needed extensive immunohistochemistry to differentiate between other malignancy. recurrence present in numbers of the cases which managed after multidisciplinary team discussion either by excision or radiotherapy. Conclusion: Pleomorphic dermal sarcoma is a rare malignancy which needs more understanding and avoid missing as it is aggressive form of skin cancer, there is a chance of metastasis and recurrence which makes it very important to understand the process of development of the cancer and frequent review of the management guidelines.

Keywords: pleomorphic dermal sarcoma, recurrence, radiotherapy, surgical

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Authors: Jiajia Peng, Jianqing Qiu, Jianjun Ren, Yu Zhao

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Background: Insufficient sleep has been focused on as a public health epidemic. However, a comprehensive analysis of disease trajectory associated with unhealthy sleep habits is still unclear currently. Objective: This study sought to comprehensively clarify the disease's trajectory in relation to the overall poor sleep pattern and unhealthy sleep behaviors separately. Methods: 410,682 participants with available information on sleep behaviors were collected from the UK Biobank at the baseline visit (2006-2010). These participants were classified as having high- and low risk of each sleep behavior and were followed from 2006 to 2020 to identify the increased risks of diseases. We used Cox regression to estimate the associations of high-risk sleep behaviors with the elevated risks of diseases, and further established diseases trajectory using significant diseases. The low-risk unhealthy sleep behaviors were defined as the reference. Thereafter, we also examined the trajectory of diseases linked with the overall poor sleep pattern by combining all of these unhealthy sleep behaviors. To visualize the disease's trajectory, network analysis was used for presenting these trajectories. Results: During a median follow-up of 12.2 years, we noted 12 medical conditions in relation to unhealthy sleep behaviors and the overall poor sleep pattern among 410,682 participants with a median age of 58.0 years. The majority of participants had unhealthy sleep behaviors; in particular, 75.62% with frequent sleeplessness, and 72.12% had abnormal sleep durations. Besides, a total of 16,032 individuals with an overall poor sleep pattern were identified. In general, three major disease clusters were associated with overall poor sleep status and unhealthy sleep behaviors according to the disease trajectory and network analysis, mainly in the digestive, musculoskeletal and connective tissue, and cardiometabolic systems. Of note, two circularity disease pairs (I25→I20 and I48→I50) showed the highest risks following these unhealthy sleep habits. Additionally, significant differences in disease trajectories were observed in relation to sex and sleep medication among individuals with poor sleep status. Conclusions: We identified the major disease clusters and high-risk diseases following participants with overall poor sleep health and unhealthy sleep behaviors, respectively. It may suggest the need to investigate the potential interventions targeting these key pathways.

Keywords: sleep, poor sleep, unhealthy sleep behaviors, disease trajectory, UK Biobank

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Authors: Moriom Akter Mousumi, Spyridon Paparrizos, Fulco Ludwig

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Rice yield reduction due to climate change-induced disease occurrence is becoming a great concern for coastal farmers of Bangladesh. The development of participatory climate information services (CIS) based on farmers’ needs could implicitly facilitate farmers to get disease forecasts and make better decisions to manage diseases. Therefore, this study aimed to investigate how participatory climate information services assist coastal rice farmers to take up rice disease forecasts and better manage rice diseases by improving their informed decision-making. Through participatory approaches, we developed a tailor-made agrometeorological service through the DROP app to forecast rice diseases and manage them in advance. During farmers field schools (FFS) we communicated 7-day disease forecasts during face-to-face weekly meetings using printed paper and, messenger app derived from DROP app. Results show that the majority of the farmers understand disease forecasts through visualization, symbols, and text. The majority of them use disease forecast information directly from the DROP app followed by face-to-face meetings, messenger app, and printed paper. Farmers participation and engagement during capacity building training at FFS also assist them in making more informed decisions and improved management of diseases using both preventive measures and chemical measures throughout the rice cultivation period. We conclude that the development of participatory CIS and the associated capacity-building and training of farmers has increased farmers' understanding and uptake of disease forecasts to better manage of rice diseases. Participatory services such as the DROP app offer great potential as an adaptation option for climate-smart rice production under changing climatic conditions.

Keywords: participatory climate service, disease forecast, disease management, informed decision making, coastal Bangladesg

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Authors: Mustafa Cam, Nedim Ongun, Ufuk Kutluana

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Introduction: Restless LegsSyndrome (RLS) is a common, under-recognized disorder disrupts sleep and diminishes quality of life (1). The most common conditions highly associated with RLS include renalfailure, iron and folic acid deficiency, peripheral neuropathy, pregnancy, celiacdisease, Crohn’sdiseaseandrarelymalignancy (2).Despite a clear relation between low peripheral iron and increased prevalence and severity of RLS, the prevalence and clinical significance of RLS in iron-deficientanemic populations is unknown (2). We report here a case of RLS due to iron deficiency in the setting of neuroendocrinetumor. Report of Case: A 35 year-old man was referred to our clinic with general weakness, weight loss (10 kg in 2 months)and 2-month history of uncomfortable sensations in his legs with urge to move, partially relieved by movement. The symptoms were presented very day, worsening in the evening; the discomfort forced the patient to getup and walk around at night. RLS was severe, with a score of 22 at the International RLS ratingscale. The patient had no past medical history. The patient underwent a complete set of blood analyses and the following ab normal values were found (normal limitswithinbrackets): hemoglobin 9.9 g/dl (14-18), MCV 70 fL (80-94), ferritin 3,5 ng/mL (13-150). Brain and spinemagnetic resonance imaging was normal. The patient consultated with gastroenterology clinic and gastointestinal systemendoscopy was performed for theetiology of the iron deficiency anemia. After the gastricbiopsy, results allowed us to reach the diagnosis of neuroen docrine tumor and the patient referred to oncology clinic. Discussion: The first important consideration from this case report is that the patient was referred to our clinic because of his severe RLS symptoms dramatically reducing his quality of life. However, our clinical study clearly demonstrated that RLS was not the primary disease. Considering the information available for this patient, we believe that the most likely possibility is that RLS was secondary to iron deficiency, a very well-known and established cause of RLS in theliterature (3,4). Neuroendocrine tumors (NETs) are rare epithelial neoplasms with neuroendocrine differentiation that most commonly originate in the lungs and gastrointestinal tract (5). NETs vary widely in their clinical presentation; symptoms are often nonspecific and can be mistaken for those of other more common conditions (6). 50% of patients with reported disease stage have either regional or distant metastases at diagnosis (7). Accurate and earlier NET diagnosis is the first step in shortening the time to optimal care and improved outcomes for patients (8). The most important message from this case report is that RLS symptoms can sometimes be thesign of a life-threatening condition. Conclusion: Careful and complete collection of clinical and laboratory data should be carried out in RLS patients. Inparticular, if RLS onset coincides with weight loss and iron deficieny anemia, gastricendos copy should be performed. It is known about that malignancy is a rare etiology in RLS patients and to our knowledge; it is the first case with neuro endocrine tumor presenting with RLS.

Keywords: neurology, neuroendocrine tumor, restless legs syndrome, sleep

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Authors: Getahun Lemma

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Introduction Guinea Worm Disease (GWD), also known as dracunculiasisis, is one of the oldest diseases in the history of mankind. Dracunculiasis is caused by a parasitic nematode, Dracunculus medinensis. Infection is acquired by drinking contaminated water with copepods containing infective Guinea Worm (GW) larvae). Almost one year after the infection, the worm usually emerges out through the skin on a lower, causing severe pain and disabilities. Although there is no effective drug or vaccine against the disease, the chain of transmission can be effectively prevented with simple and cost effective public health measures. Death due to dracunculiasis is very rare. However, it results in a wide range of physical, social and economic sequels. The disease is usually common in the rural, remote places of Sub-Saharan African countries among the marginalized societies. Currently, GWD is one of the neglected tropical diseases, which is on the verge of eradication. The global Guinea Worm Eradication Program (GWEP) was started in 1980. Since then, the program has achieved a tremendous success in reducing the global burden and number of GW case from 3.5 million to only 28 human cases at the end of 2018. However, it has recently been shown that not only humans can become infected, with a total of 1,105 animal infections have been reported at the end of 2018. Therefore, the objective of this study was to identify the existing challenges in the last mile of the GWEP in order To inform Policy makers and stakeholders on potential measures to finally achieve eradication. Method Systematic literature review on articles published from January 1, 2000 until May 30, 2019. Papers listed in Cochrane Library, Google Scholar, ProQuest PubMed and Web of Science databases were searched and reviewed. Results Twenty-five articles met inclusion criteria of the study and were selected for analysis. Hence, relevant data were extracted, grouped and descriptively analyzed. Results showed the main challenges complicating the last mile of global GWEP: 1. Unusual mode of transmission; 2. Rising animal Guinea Worm infection; 3. Suboptimal surveillance; 4. Insecurity; 5. Inaccessibility; 6. Inadequate safe water points; 7. Migration; 8. Poor case containment measures, 9. Ecological changes; and 10. New geographic foci of the disease. Conclusion This systematic review identified that most of the current challenges in the GWEP have been present since the start of the campaign. However, the recent change in epidemiological patterns and nature of GWD in the last remaining endemic countries illustrates a new twist in the global GWEP. Considering the complex nature of the current challenges, there seems to be a need for a more coordinated and multidisciplinary approach of GWD prevention and control measures in the last mile of the campaign. These new strategies would help to make history by eradicating dracunculiasis as the first ever parasitic disease.

Keywords: dracunculiasis, eradication program, guinea worm, last mile

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

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

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

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Authors: Pablo Cid Galache, Laura Zamorano Bonilla

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

Keywords: Mauriac, diabetes, complication, developing countries

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Authors: Lourdes Hanna, Edward Poluyi, Chibuikem Ikwuegbuenyi, Eghosa Morgan, Grace Imaguezegie

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Background: Degeneration of the central nervous system (CNS), also known as neurodegeneration, describes an age-associated progressive loss of the structure and function of neuronal materials, leading to functional and mental impairments. Main body: Neuroinflammation contributes to the continuous worsening of neurodegenerative states which are characterised by functional and mental impairments due to the progressive loss of the structure and function of neu-ronal materials. Some of the most common neurodegenerative diseases include Alzheimer’s disease (AD), Parkinson’s disease (PD) and amyotrophic lateral sclerosis (ALS). Whilst neuroinflammation is a key contributor to the progression of such disease states, it is not the single cause as there are multiple factors which contribute. Theoretically, non-steroidal anti-inflammatory drugs (NSAIDs) have potential to target neuroinflammation to reduce the severity of disease states. Whilst some animal models investigating the effects of NSAIDs on the risk of neurodegenerative diseases have shown a beneficial effect, this is not the same finding. Conclusion: Further investigation using more advanced research methods is required to better understand neuroinflammatory pathways and understand if there is still a potential window for NSAID efficacy.

Keywords: intervention, central nervous system, neurodegeneration, neuroinflammation

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Authors: Shadi Kanan, Ghada Shahrour, Barbara Broome, Donna Bernert, Muntaha Alibrahim, Dana Hansen

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Coronary artery disease is responsible for over 7 million deaths a year worldwide. In developing countries, such as Jordan, the incidence of coronary artery disease exceeds that of developed countries. One contributing factor to this disparity is decreased physical activity among the population, for reasons related to specific cultural and religious values. Using the theory of planned behaviour, the purpose of this study was to investigate the intentions of Jordanian patients with coronary artery disease regarding physical activity. A total of 109 patients with coronary artery disease were recruited for this cross-sectional study from King Abdullah University Hospital in Jordan. A 15-item questionnaire based on the theory of planned behaviour was used to assess participants’ attitudes, subjective norms, perceived behavioural control and intentions towards engagement in physical activity. Perceived behavioural control was found to have the strongest significant relationship with participants’ intentions to engage in physical activity. Barriers to physical activity included lack of time, lack of support from family or friends, and feelings of exhaustion. Lifestyle interventions for patients with coronary artery disease should focus on fostering a sense of control over the environment to encourage patients to engage in physical activity.

Keywords: coronary artery disease, perceived behavioural control, subjective norms, theory of planned behaviour

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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

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Authors: Oya Bulut, Oguzhan Avci, Zafer Bulut, Atilla Simsek

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Livestock breeders have focused on the improvement of production traits with little or no attention for improvement of disease resistance traits. In order to determine the association between the genetic structure of the individual gene loci with possibility of the occurrence and the development of diseases, MHC (major histocompatibility complex) are frequently used. Because of their importance in the immune system, MHC locus is considered as candidate genes for resistance/susceptibility against to different diseases. Major histocompatibility complex (MHC) molecules play a critical role in both innate and adaptive immunity and have been considered candidate molecular markers of an association between polymorphisms and resistance/susceptibility to diseases. The purpose of this study is to give some information about MHC genes become an important area of study in recent years in terms of animal husbandry and determine the relation between MHC genes and resistance/susceptibility to disease.

Keywords: MHC, polymorphism, disease, resistance

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Authors: Khanh To Duc, Monica Chiogna, Gianfranco Adimari

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With three diagnostic categories, assessment of the performance of diagnostic tests is achieved by the analysis of the receiver operating characteristic (ROC) surface, which generalizes the ROC curve for binary diagnostic outcomes. The volume under the ROC surface (VUS) is a summary index usually employed for measuring the overall diagnostic accuracy. When the true disease status can be exactly assessed by means of a gold standard (GS) test, unbiased nonparametric estimators of the ROC surface and VUS are easily obtained. In practice, unfortunately, disease status verification via the GS test could be unavailable for all study subjects, due to the expensiveness or invasiveness of the GS test. Thus, often only a subset of patients undergoes disease verification. Statistical evaluations of diagnostic accuracy based only on data from subjects with verified disease status are typically biased. This bias is known as verification bias. Here, we consider the problem of correcting for verification bias when continuous diagnostic tests for three-class disease status are considered. We assume that selection for disease verification does not depend on disease status, given test results and other observed covariates, i.e., we assume that the true disease status, when missing, is missing at random. Under this assumption, we discuss several solutions for ROC surface analysis based on imputation and re-weighting methods. In particular, verification bias-corrected estimators of the ROC surface and of VUS are proposed, namely, full imputation, mean score imputation, inverse probability weighting and semiparametric efficient estimators. Consistency and asymptotic normality of the proposed estimators are established, and their finite sample behavior is investigated by means of Monte Carlo simulation studies. Two illustrations using real datasets are also given.

Keywords: imputation, missing at random, inverse probability weighting, ROC surface analysis

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Authors: Rujijan Vichivanives, Kittiya Poonsilp, Canasanan Wanavijit

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This research aims to create mobile tools to analyze rice disease quickly and easily. The principle of object-oriented software engineering and objective-C language were used for software development methodology and the principle of decision tree technique was used for analysis method. Application users can select the features of rice disease or the color appears on the rice leaves for recognition analysis results on iOS mobile screen. After completing the software development, unit testing and integrating testing method were used to check for program validity. In addition, three plant experts and forty farmers have been assessed for usability and benefit of this system. The overall of users’ satisfaction was found in a good level, 57%. The plant experts give a comment on the addition of various disease symptoms in the database for more precise results of the analysis. For further research, it is suggested that image processing system should be developed as a tool that allows users search and analyze for rice diseases more convenient with great accuracy.

Keywords: rice disease, data analysis system, mobile application, iOS operating system

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Authors: Jibran Abbasy, Rizwan Sultan, Ammar Humayun, Tabish Chawla

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Background: Hydatid disease caused by Echinococcus Granulosus affects liver in 70-90% of cases. Dogs are the definitive host while humans are the accidental host. Modalities used for its treatment are especially important for our population as the disease is endemic in many Asian countries. The aim of the study was to perform an audit of the various modalities used for treatment of hydatid disease of liver and the response to each modality in tertiary care center of Pakistan. Materials and Methods: Retrospective audit of patients diagnosed and treated for Hydatid disease of the liver at Aga Khan University Hospital from 1st January 2007 to 31st December 2014 was completed. All patients aged 16 and above were included. Patients who had extra hepatic disease and missing records were excluded. Outcome measures were morbidity, mortality and recurrence of the disease. Results: During the study period 56 patients were treated for isolated hepatic hydatid disease and were included. Mean age was 39 years with 48% being females and 52% males. Most common presenting complaint was abdominal pain seen in 53% of patients(n=41). Duration of symptoms was less than 6 months in 74% (n=38). Mostly right lobe was involved in 69% (n=38).Most common treatment modality used was surgery in 34 patients followed by PAIR in 14 patients while 8 patients were treated medically. At a median follow up of 34 months recurrence was seen in 2 patients treated with PAIR while no patient treated with surgery had recurrence with the median follow up of 20 months. While no morbidity and mortality were observed in PAIR, but in surgery 5 patients had morbidity while 1 patient had mortality. Conclusion: Our data is comparative to other studies in terms of morbidity, mortality, and recurrence. We had adequate follow up. In our study PAIR and surgery both are effective and have less complications and recurrence rate. Surgery is still the gold standard in terms of recurrence.

Keywords: echinococcous granulosus, puncture aspiration irrigation reaspiration (PAIR), surgery, hydatid disease

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Authors: Amirreza Razzaghipour Sorkhab

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One of the most common disorders among humans is hearing impairment. This paper provides an evidence base that recovers understanding of Meniere’s disease and highlights the physical and mental health correlates of the disorder. Meniere's disease is more common in the elderly. The term idiopathic endolymphatic hydrops has been attributed to this disease by some in the previous. Meniere’s disease demonstrations a genetic tendency, and a family history is found in 10% of cases, with an autosomal dominant inheritance pattern. The COCH gene may be one of the hereditary factors contributing to Meniere’s disease, and the possibility of a COCH mutation should be considered in patients with Meniere’s disease symptoms. Should be considered Missense mutations in the COCH gene cause the autosomal dominant sensorineural hearing loss and vestibular disorder. Meniere’s disease is a complex, heterogeneous disorder of the inner ear and that is characterized by episodes of vertigo lasting from minutes to hours, fluctuating sensorineural hearing loss, tinnitus, and aural fullness. The existing evidence supports the suggestion that age and sleep disorder are risk factors for Meniere's disease. Many factors have been reported to precipitate the progress of Menier, including endolymphatic hydrops, immunology, viral infection, inheritance, vestibular migraine, and altered intra-labyrinthine fluid dynamics. Although there is currently no treatment that has a proven helpful effect on hearing levels or on the long-term evolution of the disease, however, in the primary stages, the hearing may improve among attacks, but a permanent hearing loss occurs in the majority of cases. Current publications have proposed a role for the intratympanic use of medicine, mostly aminoglycosides, for the control of vertigo. more than 85% of patients with Meniere's disease are helped by either changes in lifestyle and medical treatment or minimally aggressive surgical procedures such as intratympanic steroid therapy, intratympanic gentamicin therapy, and endolymphatic sac surgery. However, unilateral vestibular extirpation methods (intratympanic gentamicin, vestibular nerve section, or labyrinthectomy) are more predictable but invasive approaches to control the vertigo attacks. Medical therapy aimed at reducing endolymph volume, such as low-sodium diet, diuretic use, is the typical initial treatment.

Keywords: meniere's disease, endolymphatic hydrops, hearing loss, vertigo, tinnitus, COCH gene

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Authors: S. Nqayi, B. Sondezi

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A rare-earth-based Sm₂MnRuO₆₊δ (SMRO) double perovskite was prepared using a high-temperature solid-state reaction. The structural, morphological, chemical, thermodynamic, and magnetic properties were measured with X-ray diffraction (XRD), energy dispersive spectroscopy (EDS), X-ray photoemission spectroscopy (XPS), and vibrating sample magnetometer (VSM), respectively. The XRD revealed a tetragonal structure belonging to the I4/mmm space group, number 139, with linear Mn−O−Ru bonds. Replacing the well-studied alkaline earth metal with a rare-earth element increased the Mn-O bond length difference between the shorter equatorial (Mn-Oab) and the axial (Mn-Oc) bonds by approximately 6.3%. The elemental composition showed an O-rich double perovskite with a Ru deficit, which encourages the formation of a Ru⁶⁺ (d²) state. XPS spectra of Sm-3d, Ru-3d, and Mn-2p revealed the coexistence of a double oxidation state for each cation; Sm²⁺, Sm³⁺, Ru³⁺, Ru⁶⁺, Mn²⁺ , and Mn³⁺, in varying proportions. Entropy studies showed drastic ordering of spins at low temperatures (up to 12.4 K), whilst increasing temperatures above this point resulted in a drastic increase of disorder of the spins (up to 43.26 K), beyond which a constant slope of entropy is observed. Magnetic measurements revealed two magnetic ground states at TN = 12.4 K and TC = 43.3 K ordering antiferromagnetically (AFM) and ferromagnetically (FM), respectively. Kneller fit further showed that the materials become completely paramagnetic at TB = 88.1 K, (the blocking temperature). The existence of ferromagnetic (FM) super-exchange coupling in this work originating from Mn³⁺ (t³₂𝓰e¹𝓰)−O−Ru³⁺ (t⁵₂𝓰e⁰𝓰) and Mn²⁺ (t³₂𝓰e²𝓰−O−Ru⁶⁺ (t²₂𝓰e⁰𝓰) which plays an important role in suppressing the Mn/Ru−O−Mn/Ru antiferromagnetic (AFM) interactions.

Keywords: solid-state reaction, super-exchange coupling, ferromagnetic, Kneller’s law, entropy

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Authors: Shumaila Shakoor

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

Keywords: organic matter, potassium, phosphorus, magnesium

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Authors: Nisha Thapa, Ram Prasad Mainali, Prakriti Chand

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Broadleaf mustard is a commercialized leafy vegetable of Nepal. However, its utilization is hindered in terms of production and productivity due to the high intensity of insects, pests, and diseases causing great loss. The plant protection part of the crop’s disease and damage intensity has not been studied much from research perspectives in Nepal. The research aimed to evaluate broadleaf mustard genotypes for resistance against different diseases. A total of 35 native genotypes of broadleaf mustard were screened at weekly intervals by scoring the plants for ten weeks. Five different diseases, such as Rhizoctonia root rot, Alternaria blight, black rot, turnip mosaic virus disease, and white rust, were reported from the broad leaf mustard genotypes. Out of 35 genotypes, 23 genotypes were found with very high Rhizoctonia Root Rot severity, whereas 8 genotypes showed very high Alternaria blight severity. Likewise, 3 genotypes were found with high Black rot severity, and 1 genotype was found with very high Turnip mosaic virus disease incidence. Similarly, 2 genotypes were found to have very high White rust severity. Among the disease of national importance, Rhizoctonia root rot was found to be the most severe disease with the greatest loss. Broadleaf mustard genotypes like Rato Rayo, CO 1002, and CO 11007 showed average to the high level of field resistance; therefore, these genotypes should be used, conserved, and stored in a mustard improvement program as the disease resistance quality or susceptibility of these genotypes can be helpful for seed producing farmers, companies and other stakeholders through varietal improvement and developmental works that further aids in sustainable disease management of the vegetable.

Keywords: genotype, disease resistance, Rhizoctonia root rot severity, varietal improvement

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Authors: Sarah Bouayyad, Ajay Nigam, Meera Beena

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

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

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Authors: Geum Yeon Sim, Jasal Patel, Anand Kumthekar, Stanley Wainapel

Abstract:

A 65-year-old right-hand dominant African-American man, formerly employed as a security guard, was referred to Rehabilitation Medicine with bilateral hand stiffness and weakness. His past medical history was only significant for myelofibrosis, diagnosed 4 years earlier, for which he was receiving scheduled blood transfusions. Approximately 2 years ago, he began to notice stiffness and swelling in his non-dominant hand that progressed to pain and decreased strength, limiting his hand function. Similar but milder symptoms developed in his right hand several months later. There was no history of prior injury or exposure to cold. Physical examination showed enlargement of metacarpophalangeal (MCP) and proximal interphalangeal (PIP) joints with finger flexion contractures, Swan-neck and Boutonniere deformities, and associated joint tenderness. Changes were more prominent in the left hand. X-rays showed mild osteoarthritis of several bilateral PIP joints. Anti-nuclear antibodies, rheumatoid factor, and cyclic citrullinated peptide antibodies were negative. MRI of the hand showed no erosions or synovitis. A rheumatology consultation was obtained, and the cause of his symptoms was attributed to myelofibrosis-related arthropathy with secondary osteoarthritis. The patient was tried on diclofenac cream and received a few courses of Occupational Therapy with limited functional improvement. Primary myelofibrosis (PMF) is a rare myeloproliferative neoplasm characterized by clonal proliferation of myeloid cells with variable morphologic maturity and hematopoietic efficiency. Rheumatic manifestations of malignancies include direct invasion, paraneoplastic presentations, secondary gout, or hypertrophic osteoarthropathy. PMF causes gradual bone marrow fibrosis with extramedullary metaplastic hematopoiesis in the liver, spleen, or lymph nodes. Musculoskeletal symptoms are not common and are not well described in the literature. The first reported case of myelofibrosis related arthritis was seronegative arthritis due to synovial invasion of myeloproliferative elements. Myelofibrosis has been associated with autoimmune diseases such as systemic lupus erythematosus, progressive systemic sclerosis, and rheumatoid arthritis. Gout has been reported in patients with myelofibrosis, and the underlying mechanism is thought to be related to the high turnover of nucleic acids that is greatly augmented in this disease. X-ray findings in these patients usually include erosive arthritis with synovitis. Treatment of underlying PMF is the treatment of choice, along with anti-inflammatory medications. Physicians should be cognizant of recognizing this rare entity in patients with PMF while maintaining clinical suspicion for more common causes of joint deformities, such as rheumatic diseases.

Keywords: myelofibrosis, arthritis, arthralgia, malignancy

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Authors: Christy M. Moen, Richard B. Townsley

Abstract:

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

Keywords: cancer, thyroid, head and neck, surgery

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Authors: Muhammad Nouman Qureshi, Muhammad Hanif

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

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

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Authors: Sahar Shams

Abstract:

Coeliac disease (CD) is a widely reported disease particularly in countries with predominant Caucasian populations. It presents with many signs and symptoms including iron deficiency (ID) and iron deficiency anaemia/anaemia (IDA/A). The exact association between ID, IDA/A and CD and how accurate these signs are in diagnosing CD is not fully known. This systematic review was conducted to investigate the accuracy of both ID & IDA/A as a diagnostic indicator for CD and whether it warrants point of care testing. A systematic review was performed looking at studies published in MEDLINE, Embase, Cochrane Library, and Web of Science. QUADAS-2 tool was used to assess risk of bias in each study. ROC curve and forest plots were generated as part of the meta-analysis after data extraction. 16 studies were identified in total, 13 of which were IDA/A studies and 3 ID studies. The prevalence of CD regardless of diagnostic indicator was assumed as 1%. The QUADAS-2 tool indicated most of studies as having high risk of bias. The PPV for CD was higher in those with ID than for those with IDA/A. Meta-analysis showed the overall odds of having CD is 5 times higher in individuals with ID & IDA/A. The ROC curve showed that there is definitely an association between both diagnostic indicators and CD, the association is not a particularly strong one due to great heterogeneity between studies. Whilst an association between IDA/A & ID and coeliac disease was evident, the results were not deemed significant enough to prompt coeliac disease testing in those with IDA/A & ID.

Keywords: anemia, iron deficiency anemia, coeliac disease, point of care testing

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Authors: Abdela Bulbula

Abstract:

Background: Marek’s disease virus is a devastating infection, causing high morbidity and mortality in chickens in Ethiopia. Methods: The current study was conducted from March to November, 2021 with the general objective of performing antemortem and postmortem, isolation, and molecular detection of Marek’s disease virus from outbreak cases in southwestern Ethiopia. Accordingly, based on outbreak information reported from the study sites namely, Bedelle, Yayo, and Bonga towns in southwestern Ethiopia, 50 sick chickens were sampled. The backyard and intensive farming systems of chickens were included in the sampling and priorities were given for chickens that showed clinical signs that are characteristics of Marek’s disease. Results: By clinical examinations, paralysis of legs and wings, gray eye, loss of weight, difficulty in breathing, and depression were recorded on all chickens sampled for this study and death of diseased chickens was observed. In addition, enlargement of the spleen and gross lesions of the liver and heart were recorded during postmortem examination. The death of infected chickens was observed in both vaccinated and non-vaccinated flocks. Out of 50 pooled feather follicle samples, Marek’s disease virus was isolated from 14/50 (28%) by cell culture method and out of six tissue samples, the virus was isolated from 5/6(83.30%). By Real time polymerization chain reaction technique, which was targeted to detect the Meq gene, Marek’s disease virus was detected from 18/50 feather follicles which accounts for 36% of sampled chickens. Conclusion: In general, the current study showed that the circulating Marek’s disease virus in southwestern Ethiopia was caused by the oncogenic Gallid herpesvirus-2 (Serotype-1). Further research on molecular characterization of revolving virus in current and other regions is recommended for effective control of the disease through vaccination.

Keywords: Ethioi, Marek's disease, isolation, molecular

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Authors: Rachel Karasenty Saltoun, Charlotte Roddick, Chelsea D. Christie, Frances Chen

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Moving has become an integral part of many people’s lives. This research explores whether relocating to a new city is associated with an increase in loneliness and cardiovascular disease risk and if this increased risk diminishes with continued residency. To test this, various psychosocial variables and three cardiovascular disease risk markers (C-reactive protein, albumin, blood pressure) were assessed on two groups of individuals: those who have moved to Vancouver, Canada in the previous 6 weeks (‘Movers’) and those who have lived in Vancouver for at least five years (‘Non-Movers’). It was hypothesized that individuals who had recently relocated would have heightened levels of loneliness, blood pressure (BP), albumin, and C-reactive protein (CRP) compared to those who had not recently relocated. Length of residency was hypothesized to moderate these effects, such that after a few months, loneliness levels and cardiovascular disease risk would decrease among those who had recently relocated. Correlational analysis indicated a trend between the change in CRP and albumin levels and loneliness overtime on an individual level. However, these results must be interpreted with caution due to the small sample size. As Vancouver’s immigration rates continue to grow, this study has important implications regarding the social support resources offered to new immigrants, as well as bringing awareness at the healthcare level of the potential increase in cardiovascular disease risk among those who have recently relocated.

Keywords: cardiovascular disease risk, loneliness, moving, residential mobility

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

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

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

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Authors: Mai M. Farid, Ximeng Yang, Tomoharu Kuboyama, Chihiro Tohda

Abstract:

Trigonelline is a major alkaloid component derived from Trigonella foenum-graecum L. (fenugreek) and has been reported before as a potential neuroprotective agent, especially in Alzheimer’s disease (AD). However, the previous data were unclear and used model mice were not well established. In the present study, the effect of trigonelline on memory function was investigated in Alzheimer’s disease transgenic model mouse, 5XFAD which overexpresses the mutated APP and PS1 genes. Oral administration of trigonelline for 14 days significantly enhanced object recognition and object location memories. Plasma and cerebral cortex were isolated at 30 min, 1h, 3h, and 6 h after oral administration of trigonelline. LC-MS/MS analysis indicated that trigonelline was detected in both plasma and cortex from 30 min after, suggesting good penetration of trigonelline into the brain. In addition, trigonelline significantly ameliorated axonal and dendrite atrophy in Amyloid β-treated cortical neurons. These results suggest that trigonelline could be a promising therapeutic candidate for AD.

Keywords: alzheimer’s disease, cortical neurons, LC-MS/MS analysis, trigonelline

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Authors: Nqobile Muleya, Winston Garira, Godwin Mchau

Abstract:

Citrus Black Spot (CBS) is a fungal disease that is responsible for huge economical loss and poses a threat to the citrus industry worldwide. We construct a mathematical model framework for citrus black spot between fruits to characterise the dynamics of the disease development, paying attention to the pathogen life cycle. We have made an observation from the model analysis that the initial inoculum from ascomata is very important for disease development and thereafter it is no longer important due to conidia which is responsible for secondary infection. Most importantly, the model indicated that ascospores and conidia are very important parameters in developing citrus black spot within a short distance. The basic reproductive number and its importance in relation to citrus black spot persistence are outlined. A numerical simulation of the model was done to explain the theoretical findings.

Keywords: epidemiological modelling, Guidnardia citricarpa, life cycle stage, fungal, disease development

Procedia PDF Downloads 369