Factors that influence disease


A 24-year-old white man has a diagnosis of hemophilia at the age of about 5 to 6 years. He has recently visited the hematology clinic for the follow-up after hospitalization for an accidental knife cut that caused excessive bleeding. The patient has a history of excessive bleeding from tooth extraction, excessive bruising since childhood and the upper gastrointestinal bleeding in the past three years. He has reported chronic pain of his joints and ankles and denied hemarthroses. The patient has given reports about the episodes of excessive bleeding treatment by use of factor VIII and fresh frozen plasma (Remor, 2013).

The patient has the FVIII deficiency (hemophilia A) which is a common type of hemophilia that affects about 5, 000 males at births. The disease approximately affects about 25, 000 people in the United States. Individuals with hemophilia suffer from deficiencies in clotting factor. The mild hemophilia bleedings problems do mainly occur after surgery, trauma and injury. The condition can accompany some symptoms. Almost 25% of the population with hemophilia has the mild deficiency. Those with moderate hemophilia experience bleeding episodes after minor injuries and may lead to spontaneous episodes of bleeding. The server hemophilia happens after trauma, injury and surgery. It has the spontaneous bleeding into muscles and joints characteristics. Recurrent bleeding of the joints also known as hemarthrosis causes hemophilic arthropathy that causes disability at a very young age (Department of Genetics 2015).


Hemophilia is a disease happening as a result of gene mutation, and it is a genetic disease. About 70% of hemophilia cases are inheritable from parents. However, the other 30% of patients do not have the family history. In such cases, the main cause of the condition is by a spontaneous gene mutation during the fertilization stage. Hemophilia is also a condition that is linked to sex since the FIX and FVIII geneses are found on the X chromosome. It is the chromosome X that determines the gender of the baby. Thus, the condition’s clinical manifestation has a link to sex. Therefore, females may not express the bleeding symptom like the males (McPhee, & Hammer, 2012).

The main source of factor VIII (FVIII) production is thought to be from the reticuloendothelial and the liver system. Transplantation of the liver can correct FVIII deficiency to persons with hemophilia. It is because of the increasing cases of individuals with mild hemophilia having progressive liver diseases. Thus, it is an indication that the liver is the main site for FVIII synthesis (Cayir, Yavuzer, and Sayli, 2014).

The RNA messenger for FVIII is also detectable in spleen and liver among other issues. Studies indicate that the production of FVIII in cells lines that are transferable show that after synthesis the FVIII shifts to the endoplasmic reticulum lumen. It is then within other protection that functions in regulating secretion. It particularly regulates the immunoglobulin binding protein in which it has to dissociate in a process that depends on energy. The FVIII’s signal peptide cleavage, as well as oligosaccharides, also takes place in the endoplasmic reticulum. The calnexin, chaperone proteins, and calreticulin, enhance both FVIII degradation and secretion. Regarding genes, the location of the FVIII (F8C) is at the X chromosome arm at Xq28 region. This gene becomes large comprising of 25 intones and 26 exons. A mature FVIII will have about 2332 amino acids. FVIII deficiency is as a result of gene inversion that causes disrupt to the FVIII gene. The disruptions are insertions, point mutations, and deletions. The low levels of FVIII happen as results of external FVIII gene defects (Huether, &McCance, 2012).

Compare and Contrast Systems Development Life Cycle (SDLC) Models

SDLC is a conceptual model integrated into the system development process that consists of a series of phases to plan, analyze, design, implement and support an information system.

Seven-Step SDLC Model
Planning is the first phase of the seven-step SDLC model and is essential in determining the necessity of a proposed system so as to achieve efficiently and effectively the organization’s strategic goals. Planning phase entails of determining the project scope and the IT specialists and analysts define the location for the execution of the system functions. (Ahituv, Neumann & Zviran 2002)

System analysis
System analysis involves the IT specialists and analysts, and the end-users to work together to identify the need for change or the source of the problem. (Babers, 2015) The development team that got identified in the planning phase works together with the system users in modeling and the definition of the business process in detail.

This phase involves the determination of the information requirements of the new system. (Shim, 2000) Simply the description of the necessary features, specifications, and operations of the new system get done in detail.

The development phase involves the transformation of the design documents into the actual system. (Ruparelia 2010) System designers build and program information technologies and information system projects at this stage.

The purpose of integration and systems testing is to determine whether the new system meets the set of business objectives set out in the planning phase and to check for bugs, errors, and interoperability. The typical approach to testing of the design is to move from an individual element to the view of the entire system. (Norton, & McGraw-Hill, 2002)

The implementation phase entails of the distribution of the new system to all the organization’s personnel and installation in the various departments. After installation in the departments, the workers get training on the operation of the new system. (Crnkovic, & Larsson, 2002) They also receive documentation such as system manuals and user guide to instruct them on the use of the system.

Operation and Maintenance

The final phase of the seven-step SDLC model involves the evaluation and maintenance of the new system. During the systems support and security phase, the IT staff is responsible for the maintenance, improvement, and protection of the new system. Maintenance involves correction of errors and adaptation to the changes of the environment. Improvement involves the alterations to provide new features and benefits while protection includes the safeguarding the new system from internal and external threats. (Shelly, & Rosenblatt, 2011)

Four-step SDLC Model
Definition Phase
The definition phase is the initial phase of the four-step model and consists of preliminary analysis, feasibility study, information analysis, and system design. The preliminary analysis gets used to determine the problem that requires a new system or system modification in an organization. The feasibility study also determines the necessity of the project and draws a preliminary plan on how it should proceed if justified. The information analysis consists of an analysis of the present system, the determination of the information requirements and the conceptual design of the proposed system. The system design entails of developing a program and procedure specifications that would get used by IT specialists and developers of the proposed system.

Construction Phase
The construction phase comprises of the programming, procedure and development. (Ruparelia, 2010) The programming activity involves the coding and testing of the computer programs on the computer system. The procedure and development include writing and the testing of procedures for various users and operators. The programming results in computer instructions whereas the procedure and development results in instructions meant to guide the people involved in the proposed system.

Implementation Phase
The third phase is the implementation phase that involves conversion in Information systems technologies. The implementation phase involves the training of the workers that will operate and use the new system, breaking the system in, and finally acceptance testing by the end-user. (Li, 1990)

Operation and Testing Phase

The last step of the four-step model comprises of operation and maintenance, post audit, and termination. The new system at this stage operates as a production facility, processing and producing information, and at the same time undergoing maintenance. Throughout the functioning of the system, periodic post audit review forms control points. The purpose of the reviews is to indicate when the operation cycle of the current system approaches the end, and a new cycle life get indicated. The current system gets terminated when its operation in the organization is not worthwhile. (Ahituv, Neumann & Zviran 2002)

Compare and Contrast the seven-step and four-step SDLC Models
The seven-step and four-step models are systematic processes used in system development by organizations and businesses. They also have closely related processes though with different activities at each phase. Both processes are used to produce new systems that assist in corporate transactions, the connection of businesses and office data, and also support users in the architecture of strategy. The life cycle of the two models starts at initiation and ends after termination. (Isaias & Issa 2015) However, there are several differences between the two SDLC models. The seven-step model is highly preferable and produces high-quality systems because it entails of more stages that allow the solving of complex problems, end-user involvement, and flexibility. Unlike the four-step SDLC model, the seven-step SDLC model consumes more time and resources in building, implementation, and construction of information systems. The suitability of the seven-step SDLC model is handling complex problems that require more concentration. The four-step SDLC model gets suited for the less complex issues that get needed in a short period.

Legal and Ethical Issues on Assisted Suicide

Committing suicide do happen in different scenarios whereby one can voluntarily decide to take a way life without the knowledge of the relatives. On the other hand, some seek advice and support on how to take away their life. This controversial has got the attention of law such that some states have established rules and regulations to govern the action of assisted suicide. In basic legal regulations, it is necessary to understand the role played by involved party played in committing the suicide. It has been taken as illegal in a handful of states for physician-assisted suicide whereby over 30 states have taken the step of enacting the statutes of prohibiting assisted suicide. They have well arguably prohibited assisted suicide through the common law.

According to the U.S. Supreme Court, there is no an actual constitutional right to die. This saw the court leaving for individual state to enact its legislation of permitting or prohibiting physician assisted suicide. The fact is that a person will be guilty of taking part in a suicide attempt when the individual knowingly causes or helps the person to attempt the suicide. However, through the Death with Dignity Act, ill adults have the option of seeking for lethal doses from osteopathic physicians for them to have a peaceful ending of life.

Besides the assisted suicide having some support and eligibility from some states, there are some legal issues that arise over the practice. The fact is that the roles played by legislators, judges and administrative officials in influence the patient care do vary. The legal issue that will raise the eyebrows is that if assisted suicide is made legal, then the follow up experience will be the ending of lives without the consent of the people through the human negligence and abuse of the law. Legalization of the assisted suicide will have the high number in compromising of the family as well as the intergenerational commitments. The legal issue that will follow out is the controversial about the delivery of human equality and dignity before the state law (Cassel, 7). It, therefore, comes with some concerns with the consideration of assisted suicide as legal.

The assisted suicide comes with ethical concern such that the doctors are defined with eh role of doing no harm. How ideal is it for the doctor to facilitate the ending of life. However, the law sees differently such that old aged human have right to die with dignity and peaceful and this can get done with the assistance of doctors. It sounds moral, right and caring for a compassionate medical practitioner to provide patient with necessary prescription that will enable the patient to die with dignity. This is not such controversial to the principle that is paramount that states that doctors have the duty of relieving suffering. It actually depends with the state law since participation in suicide is taken as murder unless the ending of life is done professionally as defined by the common law. Otherwise, prosecution should take its direction.

Assisted suicide may come up on a genuine basis although at times remain to have some hidden meaning. The issue of assisted suicide should be taken within the given range and it should get considered only acceptable within a given scope of execution. It is ethical to observe the rights of the human and the respecting of other opinions that seems to reduce suffering to their lives. Thus, assisted suicide should only be legal under special circumstances.