Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 88 for “"Rare Disease"”.
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Germline mutation in rare disease
… the ultimate source of evolutionary change and disease-causing variants. Understanding the rates and patterns of human mutation can help us learn about their molecular origins, uncover our evolutionary history and improve our ability to identify the genetic causes of human disease. With the …
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Lessons from a rare disease
Progeria is a genetic aging disease of childhood affecting an estimated one in four to eight million births. Children with progeria experience a range of developmental disorders and aging-like symptoms, including wrinkled and discolored skin, stunted growth, visible veins, fat loss, hair loss, bone …
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Few Shot Learning for Rare Disease Diagnosis
Rare diseases affect 300-400 million people worldwide, yet each disease has very low prevalence, affecting no more than 50 per 100,000 individuals. Many patients with rare genetic conditions remain undiagnosed due to clinicians' lack of experience with the individual diseases and the considerable …
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Integrating the Rare Disease Context into Medical Training Models
… care, EBM and PCC were not developed with rare disease (RD) in mind, and therefore the tenets of those models may not hold up as expected in the treatment of RD. In the RD context patients are often more informed about both the disease and illness experience (Babac et al., 2019); there are …
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Establishment of Data Base for Survey of Rare Disease
… 질환 관련 민간 비영리 봉사 단체가 함께 National Organization for Rare Disorders(NORD)란 연합체를 구성하여 희귀난치성 질환을 앓고 있는 환자와 가족들에 대한 다각적인 지원 및 교육 사업을 시행하고 있을 뿐만 아니라 희귀난치성 질환의 데이터베이스(DB)를 구축하는 사업도 전개하여, 2008년에는 1200여 종의 희귀난치성 질환 DB를 제공하고 있다. 우리나라에서는 국민기초생활보장법 시행으로 희귀난치성 질환에 대해서 의료비 지원을 하고 있으며, 희귀난치성질환헬프라인에서 500종에 대하여 …
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Automatic rare disease extraction based on large language models
Submission original under an indefinite embargo labeled 'Open Access'. The submission was exported from vireo on 2024-09-16 without embargo terms
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Automatic rare disease extraction based on large language models
Submission original under an indefinite embargo labeled 'Open Access'. The submission was exported from vireo on 2024-09-16 without embargo terms
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Social determinants of health in patients with congenital rare disease
Rare and orphan diseases represent a substantial public health challenge, yet population-level evidence describing how social determinants of health, institutional context, and patient experience shape outcomes remains limited. Although rare diseases are often framed primarily through genetic and …
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The Angelman Approach : hacking DNA to treat a rare disease
One of every hundred children is born with a disease caused by a single abnormal gene. In the case of Angelman Syndrome, the genetic defect leaves patients mentally disabled, largely or completely unable to speak, and prone to seizures and sleep difficulties. Many Angelman researchers are trying to …
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Pulmonary Alveolar Proteinosis: The first South African insight into this rare disease
… Pulmonary alveolar proteinosis (PAP) is a rare disorder characterized by excessive accumulation of intra-alveolar surfactant related, lipoproteinaceous material. With the exception of a single pediatric case report of PAP, no data exists in Sub Saharan Africa. The aim of the study is to …
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Perspectives and Experiences of Canadian Pediatric Rare Disease Researchers in Collaborative Research with Industry: A Mixed Methods Study
Objectives: We investigated pediatric rare disease researchers’ experiences and perspectives with research collaborations involving industry partners. Methods: This mixed methods study included a cross-sectional survey of academic/hospital-based Canadian pediatric rare disease researchers which …
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Klippel-Feil Syndrome: A study of parents' experiences of diagnosis, health service use, and online support in a rare disease population
This study describes the experience of diagnosis, health service use, and online support for parents who have a child diagnosed with Klippel-Feil Syndrome. The survey drew questions from the EurordisCare 2 and 3 surveys. A total of 15 parents participated in the study; parents were recruited from a …
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Think ‘Zebra’
Thousands of rare diseases affect 300 million people globally, but a potential breakthrough in one sheds light on the systemic barriers to research and diagnosis. Ehlers-Danlos Syndrome (EDS) has thirteen subtypes, and, to date, all but one have at least one identified genetic marker. In 2021, …
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ΤΟ ΚΛΙΝΙΚΟ ΦΑΣΜΑ ΤΗΣ ΠΡΩΤΟΓΕΝΟΥΣ ΧΟΛΙΚΗΣ ΚΙΡΡΩΣΕΩΣ (ΜΕΛΕΤΗ ΜΙΑΣ ΣΕΙΡΑΣ 116 ΠΕΡΙΣΤΑΤΙΚΩΝ)
… 1. PBC MUST NO LONGER BE CONSIDERED AS A RARE DISEASE FOR OUR COUNTRY. 2. A LARGE PERCENTAGE OF PATIENTS (28,4%) ARE SUFFERING FROM AN ASYMPTOMATIC FORM OF THIS DISEASE NOT CONFORMING WITH THEGENERALLY ACCEPTED CRITERIA FOR PBL. ASYMPTOMATIC PBC AS A WHOLE SHOWS A BETTER PROGNOSIS THAN …
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
… type 7 (SCA7) is an inherited neurodegenerative disease caused by a pathogenic expansion of a CAG repeat within the ataxin 7 gene, resulting in an expanded polyglutamine tract in the ATXN7 protein. SCA7 patients suffer from selective degeneration of cerebellar Purkinje neurons and retinal …
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Development of computational approaches for whole-genome sequence variation and deep phenotyping
The rare disease pulmonary arterial hypertension (PAH) results in high blood pressure in the lung caused by narrowing of lung arteries. Genes causative in PAH were discovered through family studies and very often harbour rare variants. However, the genetic cause in heritable (31%) and idiopathic …
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Polycystic Disease of the Kidneys with special reference to its Clinical features, Radiological diagnosis and Genetic Nature
This work on polycystic disease of the kidney commenced while the author was engaged in general practice in Swellendam, in the South Western Cape from 1953-1956. Within a period of a year three patients, suffering from this disease, were seen. They were questioned about their family-relationship …
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The use of whole exome sequencing data to identify candidate genes involved in cancer and benign tumour predisposition
… exome sequencing has transformed the study of disease predisposition. The sequencing of both large disease sets and smaller rare disease families enables the identification of new predisposition variants and potentially provide clinical insight into disease management. There is no standard …
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