Abstract

Background: Biedl–Bardet syndrome (BBS) is an autosomal recessive disorder. It is classified as a "rare genetic disease" affecting about 1 in 250,000 persons worldwide. BBS is a disorder that affects many parts of the body and cause learning impairments, retinal degeneration, renal failure, obesity, post-axial polydactyly and hypogonadism. It is one of the most well-studied conditions in the family of diseases caused by defective cilia which is also known as ciliopathies. In this study, researcher provide an updated knowledge on clinical features, diagnostic developments and progress in the management of Bardet–Biedl syndrome. As Advancement occur in diagnostic technology including exome and whole genome studies and sequencing it is expanding the spectrum of patients who are diagnosed with this disorder and increasing the number of cases with diagnostic uncertainty.
 Materials and Methods: A one-group pre-test-post-test research design was used to evaluate the effects of an information booklet on nursing students' understanding of Bardet-Biedl syndrome. Non probability purposive sampling technique is used. In this study a total number of 300 students who fulfilled the inclusion criteria were selected the setting of the study is selected nursing college Wardha.
 Expected Results: This study is planned to evaluate the effectiveness of information booklet on knowledge regarding Bardet- Biedl syndrome among nursing students, as a result, it is expected to determine the nursing student's degree of knowledge of the Bardet-Biedl Syndrome and to improve that knowledge.

Highlights

  • 1.1 BackgroundA genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth

  • Expected Results: This study is planned to evaluate the effectiveness of information booklet on knowledge regarding Bardet- Biedl syndrome among nursing students, as a result, it is expected to determine the nursing student's degree of knowledge of the Bardet-Biedl Syndrome and to improve that knowledge

  • This study is planned to evaluate the effectiveness of information booklet on knowledge regarding Bardet- Biedl syndrome among nursing students It is expected that given informational booklet will help to improve the knowledge of the respondents

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Summary

Introduction

1.1 BackgroundA genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Biedl–Bardet syndrome (BBS) is an autosomal recessive disorder It is classified as a "rare genetic disease" affecting about 1 in 250,000 persons worldwide. BBS is a disorder that affects many parts of the body and cause learning impairments, retinal degeneration, renal failure, obesity, post-axial polydactyly and hypogonadism. It is one of the most well-studied conditions in the family of diseases caused by defective cilia which is known as ciliopathies. Expected Results: This study is planned to evaluate the effectiveness of information booklet on knowledge regarding Bardet- Biedl syndrome among nursing students, as a result, it is expected to determine the nursing student's degree of knowledge of the Bardet-Biedl Syndrome and to improve that knowledge

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