The purpose of this paper is to review the etiology, pathophysiology, clinical manifestations, inheritance patterns, and recent advances in disease management of cystic fibrosis. Cystic fibrosis is a progressive and lethal disease resulting from an autosomal recessive gene (Singh, Rebordosa, Bernholz, & Sharma, 2015). The major problem associated with cystic fibrosis is the repeated lung infections that over time severely damage the lungs, scar and widen the passageways and limit the ability to breathe (Cystic Fibrosis Foundation, n.d.). As of 2013, there are an estimated 70,000 cystic fibrosis patients globally with 33,000 of them in the United States ( ...
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Lis Rodriguez
Lab 1 ASA College Abstract Patau’s syndrome is a rare genetic disorder that involves trisomy 13. The condition is characterised by either an extra copy of the autosomal chromosome number 13 or a translocation to chromosome 13 from another chromosome. There are severe symptoms observed in the unborn and newborn children having this defect. Polydactyly, cleft lips, physical retardation, mental retardation, heart defects are few of the many symptoms. The disease can be diagnosed during gestation via screening methods followed by several analytical procedures like FISH, karyotyping and microarray on samples of blood and serum from the pregnant ...
Formation of bone during foetal development occurs through the process of ossification. This process is extremely important to proper bone length, density, and uniform skeletal formation. It is driven by a complex network of genes that code for signalling proteins whose function is to turn the ossification process on, off, or slow it down. Defects in these genes can cause problems with the ossification process, and can lead to conditions of skeletal dysplasia (improper formation of bone). One such condition is Achondroplasia, one of the most common forms of dwarfism, or congenital short stature (Lister Hill National Centre for Biomedical ...
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When a child is unable to express himself, his emotions, what he thinks, feels or wants and reacts differently from other children, perhaps he is suffering from a neurodevelopment disorder that is commonly known as autism. This paper intends to discuss autism, its causes, symptoms, and about its treatment along with discussing several other related aspects of the subject.
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Autism is a bunch of complex brain disorders that are jointly known as Autism Spectrum Disorder. This Spectrum refers to broad range of issues associated with ASD including difficulties related to communication, normal brain functioning, social mutilation, restricted, dull and stereotyped conduct of a ...
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