Search results for: rare disease in India

Authors: L. Mtibaa, N. Baccouchi, S. Hannechi, R. Abid, R. Battikh, B. Jemli

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Cryptococcosis is an opportunistic fungal infection which is commonly associated with an immune-compomised state, especially HIV infection. Rare cases of cryptococcosis have been reported in patients with multiple myeloma (MM), and they are all at a late stage of the disease. However, the inaugural character of cryptococcosis revealing the MM at an early stage has never been reported to our best knowledge. We presented here a case of neuromeningeal cryptococcosis in a patient without any apparent underlying conditions, who has revealed IgA-λ MM. Early detection and treatment of cryptococcosis are essential to reduce morbidity and for a better outcome.

Keywords: Cryptococcosis, Cryptococcus, hematologic, malignancy

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

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

Keywords: megaloblastic anemia, children, vitamin B12, anemia

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Authors: Parul Garg

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Bouveret Syndrome is a rare presentation described as Gastric Outlet Obstruction secondary to Gallstone Ileus. Here we describe the 3-year progression of disease from cholelithiasis to gallstone ileus with relevant imaging findings. The patient was treated under an Upper Gastrointestinal Surgery service with surgical intervention in the form of a laparoscopic assisted procedure with midline laparotomy. She recovered well and was discharged 1 week post operatively. No complications occurred.

Keywords: Cholelithiasis, Bouveret syndrome, Gallstone Ileus, gastric outlet obstruction

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Authors: Faiz N. K. Yusufi, Aquil Ahmed, Jamal Ahmad

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Diabetes in India is growing at an alarming rate and the complications caused by it need to be controlled. Coronary heart disease (CHD) is one of the complications that will be discussed for prediction in this study. India has the second most number of diabetes patients in the world. To the best of our knowledge, there is no CHD risk score for Indian type 2 diabetes patients. Any form of CHD has been taken as the event of interest. A sample of 750 was determined and randomly collected from the Rajiv Gandhi Centre for Diabetes and Endocrinology, J.N.M.C., A.M.U., Aligarh, India. Collected variables include patients data such as sex, age, height, weight, body mass index (BMI), blood sugar fasting (BSF), post prandial sugar (PP), glycosylated haemoglobin (HbA1c), diastolic blood pressure (DBP), systolic blood pressure (SBP), smoking, alcohol habits, total cholesterol (TC), triglycerides (TG), high density lipoprotein (HDL), low density lipoprotein (LDL), very low density lipoprotein (VLDL), physical activity, duration of diabetes, diet control, history of antihypertensive drug treatment, family history of diabetes, waist circumference, hip circumference, medications, central obesity and history of CHD. Predictive risk scores of CHD events are designed by cox proportional hazard regression. Model calibration and discrimination is assessed from Hosmer Lemeshow and area under receiver operating characteristic (ROC) curve. Overfitting and underfitting of the model is checked by applying regularization techniques and best method is selected between ridge, lasso and elastic net regression. Youden’s index is used to choose the optimal cut off point from the scores. Five year probability of CHD is predicted by both survival function and Markov chain two state model and the better technique is concluded. The risk scores for CHD developed can be calculated by doctors and patients for self-control of diabetes. Furthermore, the five-year probabilities can be implemented as well to forecast and maintain the condition of patients.

Keywords: coronary heart disease, cox proportional hazard regression, ROC curve, type 2 diabetes Mellitus

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Authors: Ying Zhu, Ning Wu, Hai-Dong Huang, Yu-Chao Dong, Qin-Ying Sun, Wei Zhang, Qin Wang, Qiang Li

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Background and study aims: Tracheobronchopathia osteochondroplastica (TO) is an uncommon disease of the tracheobronchial system that leads to narrowing of the airway lumen from cartilaginous and/or osseous submucosal nodules. The aim of this study is to perform a detailed review of this rare disease in a large cohort of patients with TO proven by fiberoptic bronchoscopy from China. Patients and Methods: Retrospective chart review was performed on 41,600 patients who underwent bronchoscopy in the Department of Respiratory Medicine of Changhai Hospital between January 2005 and December 2012. Cases of TO were identified based on characteristic features during bronchoscopic examination. Results: 22 cases of bronchoscopic TO were identified. Among whom one-half were male and the mean age was 47.45 ±10.91 years old. The most frequent symptoms at presentation were chronic cough (n=14) and increased sputum production (n=10). Radiographic abnormalities were observed in 3/18 patients and findings on computed tomography consistent with TO such as beaded intraluminal calcifications and/or increased luminal thickenings were observed in 18/22 patients. Patients were classified into the following categories based on the severity of bronchoscopic findings: Stage I (n=2), Stage II (n=6) and Stage III(n=14). The result that bronchoscopic improvement was observed in 2 patients administered with inhaled corticosteroids suggested that resolution of this disease is possible. Conclusions: TO is a benign disease with slow progression, which could be roughly divided into 3 stages on the basis of the characteristic endoscopic features and histopathologic findings. Chronic inflammation was thought to be more important than the other existing plausible hypotheses in the course of TO. Inhaled corticosteroids might have some impact on patients at Stage I/II.

Keywords: airway obstruction, bronchoscopy, etiology, Tracheobronchopathia osteochondroplastica (TO), treatment

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Authors: Vinay Kumar, M. Kishor, Sathyanarayana Rao Ts

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Background: Growth of elderly people in the general population in recent years is termed as ‘greying of the world’ where there is a shift from high mortality & fertility to low mortality and fertility, resulting in an increased proportion of older people as seen in India. Improved health care promises longevity but socio-economic factors like poverty, joint families and poor services pose a psychological threat. Epidemiological data regarding the prevalence of mental disorders in geriatric population with physical illness is required for proper health planning. Methods: Sixty consecutive elderly patients aged 60 years or above of both sexes, reporting with physical illness to general outpatient registration counter of JSS Medical College and Hospital, Mysore, India, were considered for the Study. With informed consent, they were screened with General Health Questionnaire (GHQ-12) and were further evaluated for diagnosing mental disorders according to WHO International Classification of Diseases (ICD-10) criteria. Results: Mental disorders were detected in 48.3%, predominantly depressive disorders, nicotine dependence, generalized anxiety disorder, alcohol dependence and least was dementia. Most common physical illness was cardiovascular disease followed by metabolic, respiratory and other diseases. Depressive disorders, substance dependence and dementia were more associated with cardiovascular disease compared to metabolic disease and respiratory diseases were more associated with nicotine dependence. Conclusions: Depression and Substance use disorders among elderly population is of concern, which needs to be further studied with larger population. Psychiatric morbidity will adversely have an impact on physical illness which needs proper assessment and management. This will enhance our understanding and prioritize our planning for future.

Keywords: Geriatric, mental disorders, physical illness, psychiatry

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Authors: Aravind Kumar

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The high terrains of Garhwal (Uttarakhand) Himalaya are the niches of a number of rare and endemic plant species of great therapeutic importance. However, the wild flora of the area is still under a constant threat due to rapid upsurge in human interferences, especially through multifarious tourism growth and peri-urban encroachments. After getting the status of a ‘Special State’ of the country since its inception in the year 2000, this newly borne State led to very rapid infrastructural growth and development. Consequently, its townships started expanding in an unmanaged way grabbing nearby agricultural lands and forest areas into peri-urban landscapes. Simultaneously, a boom in tourism and pilgrimage in the state and the infrastructural facilities raised by the government for tourists/pilgrims are destroying its biodiversity. Field survey revealed 242 plant species of therapeutic significance naturally growing in the area and being utilized by local inhabitants as traditional medicines. On conservation scale, 6 species (2.2%) were identified as critically endangered, 19 species (7.1%) as the endangered ones, 8 species (3.0%) under rare category, 17 species (6.4%) as threatened and 14 species (5.2%) as vulnerable. The Government of India has brought mega-biodiversity hot spots of the state under Biosphere Reserve, National Parks, etc. restricting all kinds of human interferences; however, the two most sacred shrines of Hindus and Sikhs viz. Shri Badrinath and Shri Hemkunt Sahib, and two great touristic attractions viz. Valley of Flowers and Auli-Joshimath Skiing Track oblige the government to maintain equilibrium between entries of visitors vis-à-vis biodiversity conservation in high terrains of Uttarakhand Himalaya.

Keywords: biodiversity conservation, ethno-botany, Garhwal (Uttarakhand) Himalaya, peri-urban encroachment, pilgrimage and tourism

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Authors: Agi Sunday

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A descriptive analysis of reported cases of sickle cell disease and the level of awareness about genetic counselling in 30 hospitals were carried out. Additionally, 150 individuals between ages 16-45 were randomly selected for evaluation of genetic counselling awareness. The main tools for this study were questionnaires which were taken to hospitals, and individuals completed the others. The numbers of reported cases of sickle cell disease recorded in private, public and teaching hospitals were 14 and 57; 143 and 89; 272 and 57 for the periods of 1995-2000 and 2001-2005, respectively. A general informal genetic counselling took place mostly in the hospitals visited. 122 (86%) individuals had the knowledge of genetic disease and only 43 (30.3%) individuals have been exposed to genetic counselling. 64% of individuals agreed that genetic counselling would help in the prevention of genetic disease.

Keywords: sickle disease, genetic counseling, genetic testing, advocacy

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Authors: Barsha Saha, Shouvik Chakravarty, Sukanta Ray, Kshaunish Das, Nidhan K. Biswas, Srikanta Goswami

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Pancreatic Ductal Adenocarcinoma is a well-recognised cause of cancer death with a five-year survival rate of about 9%, and its incidence in India has been found to be increased manifold in recent years. Due to delayed detection, this highly metastatic disease has a poor prognosis. Several molecular alterations happen during the progression of the disease from pre-cancerous conditions, and many such alterations could be investigated for their biomarker potential. MicroRNAs have been shown to be prognostic for PDAC patients in a variety of studies. We hereby used NGS technologies to evaluate the role of small RNA changes during pancreatic cancer development from chronic pancreatitis. Plasma samples were collected from pancreatic cancer patients (n=16), chronic pancreatitis patients (n=8), and also from normal individuals (n=16). Pancreatic tumour tissue (n=5) and adjacent normal tissue samples (n=5) were also collected. Sequencing of small RNAs was carried out after small RNAs were isolated from plasma samples and tissue samples. We find that certain microRNAs are highly deregulated in pancreatic cancer patients in comparison to normal samples. A combinatorial analysis of plasma and tissue microRNAs and subsequent exploration of their targets and altered molecular pathways could not only identify potential biomarkers for disease diagnosis but also help to understand the underlying mechanism.

Keywords: small RNA sequencing, pancreatic cancer, biomarkers, tissue sample

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Authors: Kalyan Kumar Moulick

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In this paper the author studied the possibilities of using Rice Husk Ash (RHA) available in India; to produce concrete. The effect of RHA on concrete discussed. Traditional uses of Rice Husk in India pointed out and the advantages of using RHA in making concrete highlighted. Suggestion provided regarding prospective application of RHA concrete in India which in turn will definitely reduce the cost of concrete and environmental friendly due to utilization of waste and replacement of Cement.

Keywords: cement replacement, concrete, environmental friendly, rice husk ash

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Authors: Nazli Eslamirad, Peter C. Junk, Jun Wang, Glen B. Deacon

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Since coordination behavior of pyrazoles and pyrazolate ions are widely versatile towards a great range of metals such as d-block, f-block as well as main group elements; they attract interest as ligands for preparing compounds. A variety of rare-earth pyrazolate complexes have been synthesized by redox transmetalation/protolysis (RTP) previously, therefore, a variety of rare-earth pyrazolate complexes using two pyrazoles, 3,5-dimethylpyrazole (Me₂pzH) and 3,5-di-tert -butylpyrazolate (t-Bu₂pzH), in which the structures span the whole La-Lu array beside Sc and Y has been synthesized by RTP reaction. There have been further developments in this study: Synthesizing structure of [Tb(Me₂pz)₃(thf)]₂ which is isomorphous with those of the previously reported [Dy(Me₂pz)₃(thf)]₂ and [Lu(Me₂pz)₃(thf)]₂ analogous that has two µ-1(N):2(Nʹ)-Me2pz ligands (the most common pyrazolate ligation for non-rare-earth complexes). Previously most of the reported compounds using t-Bu2pzH were monomeric compounds however the lanthanum derivative [La(Me₂pz)₃thf₂] ,which has been reported previously without crystal structure, has now been structurally characterized, along with cerium and lutetium analogue. Also a polymeric structure with samarium has now been synthesized which the neodymium analogue has been reported previously and comparing these polymeric structures can support the idea that the geometry of Sm(tBu₂pz)₃ affect the coordination of the solvent. Also, by using 1,2-dimethoxyethane (DME) instead of tetrahydrofuran (THF) new [Er(tBu₂pz)₃ (dme)₂] has now been reported.

Keywords: lanthanoid complexes, pyrazolate, redox transmetalation/protolysis, x-ray crystal structures

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Authors: Kinnsley Travis, Camerron M. Crowder

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Mapk8ip3 (Mitogen-Activated Protein Kinase 8 Interacting Protein 3) is a gene that codes for the JIP3 protein, which is a part of the JIP scaffolding protein family. This protein is involved in axonal vesicle transport, elongation and regeneration. Variants in the Mapk8ip3 gene are associated with a rare-genetic condition that results in a neurodevelopmental disorder that can cause a range of phenotypes including global developmental delay and intellectual disability. Currently, there are 18 known individuals diagnosed to have sequenced confirmed Mapk8ip3 genetic disorders. This project focuses on examining the impact of a subset of missense patient variants on the Jip3 protein function by overexpressing the mRNA of these variants in a zebrafish knockout model for Jip3. Plasmids containing cDNA with individual missense variants were reverse transcribed, purified, and injected into single-cell zebrafish embryos (Wild Type, Jip3 -/+, and Jip3 -/-). At 6-days post mRNA microinjection, morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Morphologically, we compared the size and shape of the zebrafish during their development over a 5-day period. Total locomotive activity was assessed using the Microtracker assay and patterns of movement over time were examined using the DanioVision assay. Lastly, we used confocal microscopy to examine sensory axons for swelling and shortened length, which are phenotypes observed in the loss-of-function knockout Jip3 zebrafish model. Using these assays during embryonic development, we determined the impact of various missense variants on Jip3 protein function, compared to knockout and wild-type zebrafish embryo models. Variants in the gene Mapk8ip3 cause rare-neurodevelopmental disorders due to an essential role in axonal vesicle transport, elongation and regeneration. A subset of missense variants was examined by overexpressing the mRNA of these variants in a Jip3 knock-out zebrafish. Morphological, behavioral, and microscopic phenotypes were examined in zebrafish larvae. Using these assays, the spectrum of disorders can be phenotypically determined and the impact of variant location can be compared to knockout and wild-type zebrafish embryo models.

Keywords: rare disease, neurodevelopmental disorders, mrna overexpression, zebrafish research

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Authors: Mohd Zuhair, Ram Babu Roy

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This paper presents an overview of the accessibility, design, and functioning of health insurance plans launched by state governments in India. In recent years, the governments of several states in India have come forward to provide health insurance coverage for the low-income group and rural population to reduce the out of pocket expenditure (OPE) on healthcare. Different health insurance schemes have different structures and offerings which differ in the different demographic factors. This study will portray a comparative analysis of the various health insurance schemes by analyzing different offerings and finance generation of the schemes. The comparative analysis will explain the lesson to be learned from these schemes and extend the existing knowledge of the health insurance in India. This would help in recognizing tension between various drivers and identifying issues pertaining to the sustainability of health insurance schemes in India.

Keywords: health insurance, out of pocket expenditure, universal healthcare, sustainability

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Authors: G. Çelik Gül, F. Kurtuluş

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Rare earths containing complex metal oxides have drawn much attention due to physical, chemical and optical properties which make them feasible in so many areas such as non-linear optical materials and ion exchanger. We have researched a systematic study to obtain rare earth containing zirconium molybdate compound, characterization, investigation of crystal system and calculation of unit cell parameters.  After a successful synthesis of Nd₂Zr₃(MoO₄)₉ which is a member of rare earth metal containing complex oxides family, X-ray diffraction (XRD), High Score Plus/Rietveld refinement analysis, and Fourier Transform Infrared Spectroscopy (FTIR) were completed to determine the crystal structure. Morphological properties and elemental composition were determined by scanning electron microscopy (SEM) and energy dispersive X-ray (EDX) analysis. Thermal properties were observed via Thermogravimetric-differential thermal analysis (TG/DTA).

Keywords: Nd₂Zr₃(MoO₄)₉, powder x-ray diffraction, solid state synthesis, zirconium molybdates

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

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

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

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Authors: Mangesh Govindrao Acharya

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The influence of religion on politics in India can be seen in the British period. The British used partition politics to create a schism between Hindus and Muslims in India. India was partitioned in1947 due to this policy of the British. In independent India, the principle of secularism was prioritized as a solution to this in the constitution created by the people. Secularism was provided for in 1978 by the 42nd Constitutional Amendment. Although India has embraced secularism, the role of religion in politics has not ended. Although 75 years of India's independence have been completed, politics is still done in the name of religion in India. Political parties choose their candidates, keeping in mind the influence of religion in a particular constituency. People think more about religion and caste while choosing their candidates. Caste riots occur due to the influence of religion-influenced politics. There is a new dispute between the minority and the majority. The Temple-Masjid controversy has become a focal point of Indian politics. Religious hatred in India is causing a huge loss of lives and property and is creating tension among the citizens. All the aspects of Indian politics that have been corrupted by religious fanaticism have been studied in this research paper. This paper mainly explores the causality of the influence of religion on Indian politics.

Keywords: religion, Indian politics, equality and justice, Muslim society, political parties

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Authors: Shraddha Gopal, Jayam Lazarus

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Aims: To study the referral practice and impact of DAT-scan in the diagnosis or exclusion of Parkinson’s disease. Settings and Designs: A retrospective study Materials and methods: A retrospective study of the results of 60 patients who were referred for a DAT scan over a period of 2 years from the Department of Neurology at Northern Lincolnshire and Goole NHS trust. The reason for DAT scan referral was noted under 5 categories against Parkinson’s disease; drug-induced Parkinson’s, essential tremors, diagnostic dilemma, not responding to Parkinson’s treatment, and others. We assessed the number of patients who were diagnosed with Parkinson’s disease against the number of patients in whom Parkinson’s disease was excluded or an alternative diagnosis was made. Statistical methods: Microsoft Excel was used for data collection and statistical analysis, Results: 30 of the 60 scans were performed to confirm the diagnosis of early Parkinson’s disease, 13 were done to differentiate essential tremors from Parkinsonism, 6 were performed to exclude drug-induced Parkinsonism, 5 were done to look for alternative diagnosis as the patients were not responding to anti-Parkinson medication and 6 indications were outside the recommended guidelines. 55% of cases were confirmed with a diagnosis of Parkinson’s disease. 43.33% had Parkinson’s disease excluded. 33 of the 60 scans showed bilateral abnormalities and confirmed the clinical diagnosis of Parkinson’s disease. Conclusion: DAT scan provides valuable information in confirming Parkinson’s disease in 55% of patients along with excluding the diagnosis in 43.33% of patients aiding an alternative diagnosis.

Keywords: DATSCAN, Parkinson's disease, diagnosis, essential tremors

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Authors: Siddharth Jain, Abhenil Mittal, Surendra Kumar Sharma

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Background: With its recent emergence and re-emergence, dengue has become a major international public health concern, imposing significant financial burden especially in developing countries. Despite aggressive control measures in place, India experienced one of its largest outbreaks in 2015 with Delhi being most severely affected. There is a lack of reliable predictors of disease severity and mortality in dengue. The present study was carried out to identify these predictors during the 2015 outbreak. Methods: This prospective observational study conducted at an apex tertiary care center in Delhi, India included confirmed adult dengue patients admitted between August-November 2015. Patient demographics, clinical details, and laboratory findings were recorded in a predesigned proforma. Appropriate statistical tests were used to summarize and compare the clinical and laboratory characteristics and derive predictors of mortality and severe disease, while developing a clinical risk score for mortality. Serotype analysis was also done for 75 representative samples to identify the dominant serotypes. Results: Data of 369 patients were analyzed (mean age 30.9 years; 67% males). Of these, 198 (54%) patients had dengue fever, 125 (34%) had dengue hemorrhagic fever (DHF Grade 1,2)and 46 (12%) developed dengue shock syndrome (DSS). Twenty two (6%) patients died. Late presentation to the hospital (≥5 days after onset) and dyspnoea at rest were identified as independent predictors of severe disease. Age ≥ 24 years, dyspnoea at rest and altered sensorium were identified as independent predictors of mortality. A clinical risk score was developed (12*age + 14*sensorium + 10*dyspnoea) which, if ≥ 22, predicted mortality with a high sensitivity (81.8%) and specificity (79.2%). The predominant serotypes in Delhi (2015) were DENV-2 and DENV-4. Conclusion: Age ≥ 24 years, dyspnoea at rest and altered sensorium were identified as independent predictors of mortality. Platelet counts did not determine the outcome in dengue patients. Timely referral/access to health care is important. Development and use of validated predictors of disease severity and simple clinical risk scores, which can be applied in all healthcare settings, can help minimize mortality and morbidity, especially in resource limited settings.

Keywords: dengue, mortality, predictors, severity

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Authors: Suyong Kim

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Recently because of the rise in the price of rare earth magnet, interest of non-rare earth or less-rare earth motor is growing. Especially to achieve the high power density, Spoke-Type BLDC (Brushless Permanent Magnet) Motor with ferrite permanent magnet are spotlighted. But Spoke-Type Ferrite BLDC Motor has much of magnetic flux leakage in the direction of rotor shaft. In order to solve this problem, there are two conventional ways. But conventional ways bring the increases of product cost or the decreases of the power density. Therefore, this paper proposes new Spoke-Type BLDC Rotor shape that has the advantages of both conventional methods. The new shape is consists of a one-piece core. The inside and the outside of the rotor are open alternately. So it can take reduced production cost and high power density.

Keywords: motor, BLDC, spoke, ferrite

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Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

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Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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Authors: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan

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Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron‐sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 4-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and myopathy. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.

Keywords: LYRM7 gene defect, mitochondrial disease, , lactic acidosis, , genetic disorder

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Authors: Sumit Kumar Das, Laishram Ladusingh

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Aim: The aim of the study is to examine the differential of epidemiological transition across fifteen agro-climatic zones of India and its effect on health-seeking behavior. Data and Methods: Unit level data on consumption expenditure on health of India from three decadal rounds conducted by National Sample Survey Organization are used for the analysis. These three rounds are 52nd (1995-96), 60th (2004-05) and 71st (2014-15). The age-adjusted prevalence rate for communicable diseases and non-communicable diseases are estimated for fifteen agro-climatic zones of India for three time periods. Bivariate analysis is used to find out determinants of health-seeking behavior. Multilevel logistic regression is used to examine factors effecting on household health-seeking behavior. Result: The prevalence of communicable diseases is increasing in most of the zones of India. Every South Indian zones, Gujarat plains, and lower Gangetic plain are facing the severe attack of dual burden of diseases. Demand for medical advice has increased in southern zones, and east zones, reliance on private healthcare facilities are increasing in most of the zone. Demographic characteristics of the household head have a significant impact on health-seeking behavior. Conclusion: Proper program implementation is required considering the disease prevalence and differential in the pattern of health seeking behavior. Along with initiation and strengthening of programs for non-communicable, existing programs for communicable diseases need to monitor and supervised strictly.

Keywords: agro-climatic zone, epidemiological transition, health-seeking behavior, multilevel regression

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Authors: Sanjeev Kumar Shukla, Govind Singh, Prabhat Pant Shahzad Ahmad

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Background: Graves’ disease is an autoimmune disorder with a genetic predisposition, and CD40 plays a pathogenic role in various autoimmune diseases. A single nucleotide polymorphism at position –1 of the Kozak sequence of the 5 untranslated regions of the CD40 gene of exon 1 has been reported to be associated with the development of Graves’ Disease. Objective: The aim of the present study was to investigate whether CD40 gene polymorphism confers susceptibility to Graves’ disease in the Kumaon region. CD40 gene polymorphisms were studied in Graves’ Disease patients (n=50) and healthy control subjects without anti-thyroid autoantibodies or a family history of autoimmune disorders (n=50). Material and Method: CD40 gene polymorphisms were studied in fifty Graves’ Disease patients and fifty healthy control subjects. All samples were collected from STG Hospital, Haldwani, Nainital. A C/T polymorphism at position –1 of the CD40 gene was measured using the polymerase chain reaction-restriction fragment length polymorphism. Results: There was no significant difference in allele or genotype frequency of the CD40 SNP between Graves’ Disease and control subjects. There was a significant decrease in the TT genotype frequency in the Graves’ Disease patients who developed Graves’ Disease after 40 years old than those under 40 years of age. These data suggest that the SNP of the CD40 gene is associated with susceptibility to the later onset of Graves’ Disease. Conclusion: The CD40 gene was a different susceptibility gene for Graves’ Disease within certain families because it was both linked and associated with Graves’ Disease.

Keywords: autoimmune diseases, pathogenesis, diagnosis, therapy

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Authors: Pármenas Costa Macedo do Nascimento

Abstract:

Periodontal disease is the most common disease in the oral cavity of felines. It starts with the accumulation of bacteria on the tooth surface supporting the tissues of the periodontal tissue, namely gums, alveolar bone, cementum, and periodontal ligament. The main clinical symptom observed by the owner is bad breath, which may lead to local and systemic consequences depending on the stage of periodontal disease, such as bleeding and bone loss. Therefore, the study is important to educate tutors to take better care of the felines oral health in order to try to prevent the disease. For this epidemiological study, the target population has been felines, located on the outskirts of Manaus, in the state of Amazonas, with a geographic area of 155.68 km², with no defined breed, from October 1st to 10th, 2021, whose samples has been randomly selected, with a detailed profile. The variables of interest for this study have been: absence or presence of periodontal disease, gender, age (delimited by age group), and condition (domiciled or homeless). Using a sample of 40 felines from 4 districts of the east side of Manaus chosen at random, an oral exam has been made to identify the studied disease. The animal's apparent age, condition, sex, and presence or absence of periodontal disease has been noted. It has been observed that 70% (28/40) of them had periodontal disease, mostly females, aged between 0 and 5 years and domiciled, totaling 30% (12/40).

Keywords: felines, oral cavity, oral exam, periodontal disease

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Authors: Esha Banerji

Abstract:

This paper attempts an assessment of India's behaviour as a foreign policy actor amidst the COVID 19 pandemic by briefly surveying the various introductions and alterations made to India's foreign policy. First, the paper attempts to establish the key strategic pillars of Indian foreign policy after reviewing the existing works. It then proceeds to assess the prominent part played by Health Diplomacy ("Vaccine Maitri") in India's bilateral and multilateral relations during the pandemic and the role of the Indian diaspora in shaping India's foreign policy. This is followed by examining "India's Neighbourhood First policy" and the way it's been employed by the Indian government to extend India’s strategic influence during the pandemic. An empirical assessment will be done to examine the changing dynamics of India's relation with different regional groupings like SAARC, ASEAN, BIMSTEC, etc. The paper also explores the new alliances formed post-pandemic and India's role in them. This paper analyses the contemporary challenges that the largest nation in South Asia faces with the onset of a global pandemic and how Ancient Indian values like "Vasudhaiva Kutumbakam" have influenced India's foreign policy, especially during the pandemic. It also attempts to grasp the changes within the negotiation style of the Indian government, and the role played by various stakeholders in shaping India's position in the present geopolitical landscape. The study has been conducted using data collected from government records, External Affairs Ministry database, and other available literature. The paper concludes with an attempt to predict the far-reaching strategic implications that the policy, as mentioned above, may have for India.

Keywords: Indian foreign policy, COVID19, diplomacy, post pandemic world

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Authors: Garima Anand, Rupam Kapoor

Abstract:

Alternaria leaf spot caused by Alternaria carthami is one of the most devastating diseases of safflower. It has resulted in huge losses in crop production and cultivation leading to a fall out of India’s rank as the leading producer of safflower in the world. Understanding the diversity of any pathogen is essential for its management and for the development of disease control strategies. The diversity of A. carthami was therefore analysed on the basis of biochemical, pathogenicity and genetic lines using ISSR markers. Collections and isolations of 95 isolates of A. carthami were made from major safflower producing states of India. Virulence was analysed to evaluate the pathogenic potential of these isolates. The isolates from Bijapur, Dharwad districts (Karnataka), and Parbhani and Solapur districts (Maharashtra) were found to be highly virulent. The virulence assays showed low virulence levels (42%) for the largest part of the population. Biochemical characterization to assess aggressiveness of these isolates was done by estimating the activity of cell wall degrading enzymes where isolates from districts Dharwad, Bijapur of Karnataka and districts Parbhani and Latur of Maharashtra were found to be most aggressive. Genetic diversity among isolates of A. carthami was determined using eighteen ISSR markers. Distance analysis using neighbour joining method and PCoA analysis of the ISSR profiles divided the isolates into three sub-populations. The most virulent isolates clustered in one group in the dendrogram. The study provided no evidence for geographical clustering indicating that isolates are randomly spread across the states, signifying the high potential of the fungus to adapt to diverse regions. The study can, therefore, aid in the breeding and deployment of A. carthami resistant safflower varieties and in the management of Alternaria leaf spot disease.

Keywords: alternaria leaf spot, genetic diversity, pathogenic potential, virulence

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Authors: Maxim S. Botalov, Svetlana М. Titova, Denis V. Smyshlyaev, Grigory M. Bunkov, Evgeny V. Kirillov, Sergey V. Kirillov, Maxim A. Mashkovtsev, Vladimir N. Rychkov

Abstract:

In uranium production, in-situ leaching (ISL) with its relatively low cost has become an important technology. As the orebody containing uranium most often contains a considerable value of other metals, particularly rare earth metals it has rendered feasible to recover the REM from the barren ISL solutions, from which the major uranium content has been removed. Ural Federal University (UrFU, Ekaterinburg, Russia) have performed joint research on the development of industrial technologies for the extraction of REM and Scandium compounds from Uranium ISL solutions. Leaching experiments at UrFU have been supported with multicomponent solution model. The experimental work combines solvent extraction with advanced ion exchange methodology in a pilot facility capable of treating 500 kg/hr of solids. The pilot allows for the recovery of a 99% concentrate of scandium oxide and collective concentrate with over 50 % REM content, with further recovery of heavy and light REM concentrates (99%).

Keywords: extraction, ion exchange, rare earth elements, scandium

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Authors: Habu Musa, Nusaibah Binti Syd Ali

Abstract:

Oil palm industries particularly in Malaysia and Indonesia are being devastated by Ganoderma disease caused by Ganoderma spp. To date, this disease has been causing serious oil palm yield losses and collapse of oil palm trees, thus affecting its contribution to the producer’s economy. Research on sustainable and eco-friendly remedy to counter Ganoderma disease is on the upsurge to avoid the current control measures via synthetic fungicides. Trichoderma species have been the most studied and valued microbes as biological control agents in an effort to combat a wide range of plant diseases sustainably. Therefore, in this current study, the potential of Trichoderma spp. (Trichoderma asperellum, Trichoderma harzianum, and Trichoderma virens) as a consortium approach was evaluated as biological control agents against Ganoderma disease on oil palm. The consortium of Trichoderma spp. applied found to be the most effective treatment in suppressing Ganoderma disease with 83.03% and 89.16% from the foliar and bole symptoms respectively. Besides, it exhibited tremendous enhancement in the oil palm seedling vegetative growth parameters. Also, it had highly induced significant activity of peroxidase, polyphenol oxidase and total phenolic content was recorded in the consortium treatment compared to the control treatment. Disease development was slower in the seedlings treated with consortium of Trichoderma spp. compared to the positive control, which exhibited with the highest percentage of disease severity.

Keywords: biological control, ganoderma disease, trichoderma, disease severity

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Authors: Ali Ilter Akdag, Pratima Ray

Abstract:

Background:This acute gastroenteritis viruses such as rotavirus, astrovirus, and adenovirus are mainly responsible for diarrhea in children below < 5 years old. Molecular detection of these viruses is crucially important to the understand development of the effective cure. This study aimed to determine the prevalence of common these viruses in children < 5 years old presented with diarrhea from Lala Lajpat Rai Memorial Medical College (LLRM) centre (Meerut) North India, India Methods: Total 312 fecal samples were collected from diarrheal children duration 3 years: in year 2014 (n = 118), 2015 (n = 128) and 2016 (n = 66) ,< 5 years of age who presented with acute diarrhea at the Lala Lajpat Rai Memorial Medical College (LLRM) centre(Meerut) North India, India. All samples were the first detection by EIA/RT-PCR for rotaviruses, adenovirus and astrovirus. Results: In 312 samples from children with acute diarrhea in sample viral agent was found, rotavirus A was the most frequent virus identified (57 cases; 18.2%), followed by Astrovirus in 28 cases (8.9%), adenovirus in 21 cases (6.7%). Mixed infections were found in 14 cases, all of which presented with acute diarrhea (14/312; 4.48%). Conclusions: These viruses are a major cause of diarrhea in children <5 years old in North India. Rotavirus A is the most common etiological agent, follow by astrovirus. This surveillance is important to vaccine development of the entire population. There is variation detection of virus year wise due to differences in the season of sampling, method of sampling, hygiene condition, socioeconomic level of the entire people, enrolment criteria, and virus detection methods. It was found Astrovirus higher then Rotavirus in 2015, but overall three years study Rotavirus A is mainly responsible for causing severe diarrhea in children <5 years old in North India. It emphasizes the required for cost-effective diagnostic assays for Rotaviruses which would help to determine the disease burden.

Keywords: adenovirus, Astrovirus, hospitalized children, Rotavirus

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Authors: Wissam Saliba, Mandy Nicholson

Abstract:

Secretory carcinoma (SC) is a rare type of salivary gland cancer. It was first realized as a distinct type of malignancy in 2010and wasinitially termed “mammary analogue secretory carcinoma” because of similarities with secretory breast cancer. The name was later changed to SC. Most SCs originate in parotid glands, and most harbour a rare gene mutation: ETV6-NTRK3. This mutation is rare in common cancers and common in rare cancers; it is present in most secretory carcinomas. Disease outcomes for SC are usually described as favourable as many cases of SC are lowgrade (LG), and cancer growth is slow. In early stages, localized therapy is usually indicated (surgery and/or radiation). Despitea favourable prognosis, a sub-set of casescan be much more aggressive.These cases tend to be of high-grade(HG).HG casesare associated with a poorer prognosis.Management of such cases can be challenging due to limited evidence for effective systemic therapy options. This case report describes the clinical management of a 46-year-oldmale patient with a unique case of SC. He was initially diagnosed with a low/intermediate grade carcinoma of the left parotid gland in 2009; he was treated with surgery and adjuvant radiation. Surgical pathology favoured primary salivary adenocarcinoma, and 2 lymph nodes were positive for malignancy. SC was not yet realized as a distinct type of cancerat the time of diagnosis, and the pathology reportvalidated this gap by stating that the specimen lacked features of the defined types of salivary carcinoma.Slow-growing pulmonary nodules were identified in 2017. In 2020, approximately 11 years after the initial diagnosis, the patient presented with malignant pleural effusion. Pathology from a pleural biopsy was consistent with metastatic poorly differentiated cancer of likely parotid origin, likely mammary analogue secretory carcinoma. The specimen was sent for Next Generation Sequencing (NGS); ETV6-NTRK3 gene fusion was confirmed, and systemic therapy was initiated.One cycle ofcarboplatin/paclitaxel was given in June 2020. He was switched to Larotrectinib (NTRK inhibitor (NTRKi)) later that month. Larotrectinib continued for approximately 9 months, with discontinuation in March 2021 due to disease progression. A second-generation NTRKi (Selitrectinib) was accessed and prescribedthrough a single patient study. Selitrectinib was well tolerated. The patient experienced a complete radiological response within~4 months. Disease progression occurred once again in October 2021. Progression was slow, and Selitrectinib continuedwhile the medical team performed a thorough search for additional treatment options. In January 2022, a liver lesion biopsy was performed, and NGS showed an NTRKG623R solvent-front resistance mutation. Various treatment pathways were considered. The patient pursuedanother investigational NTRKi through a clinical trial, and Selitrectinib was discontinued in July 2022. Excellent performance status was maintained throughout the entire course of treatment.It can be concluded that NTRK inhibitors provided satisfactory treatment efficacy and tolerance for this patient with high-grade transformation and NTRK gene fusion cancer. In the future, more clinical research is needed on systemic treatment options for high-grade transformations in NTRK gene fusion SCs.

Keywords: secretory carcinoma, high-grade transformations, NTRK gene fusion, NTRK inhibitor

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