ACHONDROPLASIA

Achondroplasia is an inherited disorder of bone growth that causes the most common type of dwarfism. Besides that achondroplasia also one of chondodystrophies, in which the development of cartilage, and therefore, bone is disturbed. The disorder appears in approxamitely one in every 10,000 births. The average height of adult males with achondroplasia is 52 inchies ( or 4 feet, 4 inchies ). The average height of adult females with achondroplasia is 49 inches ( or 4 feet, 1 inch ).

Diagnosis is often made at birth due to the characteristically short limbs, and the appearance of a large head. X – Ray examinitation will reveal a characteristic appearance to the bones, with the bones of the limbs appearing short in leght, yet broad in width. A number of measurements of the bones in x – ray images will reveal abnormal proportions.


Achondroplasia is inherited as an autosomal dominant trait. Those with the genetic mutation for achondroplasia have a fivty percent chance of having a child of their own with the disorder. If two achondroplasia dwarfs have a child together they have a 50% chance of having a dwarfs baby, a 25% chance of having a baby of average height, and a 25% chance that the baby will have what is commonly reffered to as “ double dominance” achondroplasia. This last form is always fatal in infancy. Babies born with double dominance suffer from very small rib cages, as well as serious brain abnormalities.


Achondroplasia is caused by an abnormalily in a gene located on chromosome 4, called fibroblast growth factor receptor ( FGFR3). Sometimes the child inherits achondroplasia from a parent who has the condition, but in about 80 per cent of cases the problem result from a new mutation of a gene. In achondroplasia, the mutated from of the receptor is constitutively active and this leads to severely shortened boned bones.


Achondroplasia is noticeable at birth. The baby has an appropriate-sized trunk but his arms and legs are short, his head large, and his fingers and toes are stubby. The baby with achondroplasia is slow to sit, stand, and walk alone, but is not mentally retarted. After he starts walking he may become bow-legged. He may have ear infections during childhood and develop a sway-back(lower back lordosis). Adults may have trouble with pain in the legs, even paralysis that prevents walking. Surgery can relieve the pressure in the spine (from stenosis) causing these symptoms.

NURSING

Nursing is a focused on assisting individuals,families,and communities in attaining,maintaining, and optimal health and funcionig. Modern definition of nursing define it as a science and an art that focuses n promoting quality of life as defined by persons and families, trought their life experiences from birth to care at the end of live


History of nursing

Timeline of nursing history

Nursing comes in various forms in every culture, althought the definition of term and the pratice of nursing has changed greatly over time. The oldest sense of the word in the English language a women emploted to suckle and / or generally care for a younger child. The former being known as a wetnurse and the latter being known as a dry nurse. [1] In the 15 century, this developed into the idea of looking after a child. [1] Nursing has continued to developed in this latter sense, although the idea of nourishing in the broadest sense refers in modern nursing to promoting quality of life.


Prior of the foundation of modern nursing, nuns and the military often provided nursing-like services. [2] The religious and military roots of modern nursing remain evidence today in many countries. For example: in Britain, senior female nurses are known as “sisters”. It was during time of war that a significant development in nursing histories arose when Florence Nightingale, working to improve conditions of soldiers in the Crimean War, laid the foundation stone of profesisional nursing with the principles summarised in the book Notes of Nursing. Other important nurses in the development of the profession include: Mary Seacole, who established quality nursing schools in the USA and Japan, and Linda Richards who was officially America’s first trained nurse, graduating in 1873 from the New England Hospital For Women and Children in Boston.


New Zealand was the first country to regulate nurses nationally, with adoption of the Nurses Registration Act on the 12th of September, 1901. Ellen Dougherty was the first registered nurse. North Calorina was the first state in the United States to pass a nursing licensure law in 1903.Nurses has experienced difficully with the hierarchy in the medicine that has resulted in an impression that nurses primary purpose is to follow the direction of medics.[3] This tendency is certainly not observed in Nightingale’s Notes on Nursing, where the doctors are mentioned relatively in infrequenly and often in critical tones, particularly relating to bedside manner.[4] The modern era has seen the development of nursing degress and nursing has numerous journals to broaden the knowledge base of the profession. Nurse are often in the management roles within health services and hold research posts at universities.


Nursing as a profession


The authority for the pratice of nursing is based upon a social contact that delineates professional rights and responsibilities as well as mechanisms for public accountability. In almost all countries, nursing pratice is defined and governed by law, and entrance to the profession is regulated at national or state level.The aim of nursing community worldwide is to developed the proffesion guided by contuining education based on are nursing research, and to regulate standarts of competency and ethic. [5] There are a number of educational paths to becoming a professional nurse, whichvary greatly worldwide, but all involve extensive study of nursing theory and practice and trainging in clinical skills.

The High demand for nurses


The demand for nurses has been on the rise for several years,spurred by various economic and demographic factors. And demand for nurses is likely to continue to increase. Candidates for nursing jobs that are in highest demand include registered nurses, licensed practical nurses, certified nurse assistants, and certified medical assistants.According to the US Department of Labor Statistics, employment for registered nurses is expected to increase 23% between 2006 and 2016. Here is a breakdown of The Bureau’s estimated increase pertage per nurse employer type:

39% - Offices of Physicians

39% - Home health care services

34% - Outpatient care centers, except mental health and substance abuse

27% - Employment services

22% - General medical and surgical hospitals, public and private

20% -Nursing care facilities

The nurse demand has intersected with job search improvements, now avaible through internet employment tools, such as nursing job boards. These web sites help to automate the job search and job posting capabilities for industry candidates and employers. Most of the avaible web sites function under a model that offers free use for nursing position job seekers. Also,most provide the ability to filter searches geographically and by job type.


Nursing pratice


Nursing practice is primarily the caring relationship between the nurse and the person in their care. In providing nursing care, nurses are implementing the nursing care plan, which is based on a nursing assessment.

  • Definition

Although nursing practice varies both through its various specialities and countries,these nursing organitations offer the following definition:

Nursing encompasses aotunomous and collaborative care of individuals of all ages, families, groups and communities, sick or well and in all settings. Nursing includes the promotion of health, prevention of illness, and the care of ill, disable and dying people. Advocacy, promotion of a safe environment, research, participation in shaping health policy and in patient and health systems management, and education are also key nursing roles.

--International Council of Nurses [5]


The use of clinical judgement in the provision of care to enable people to improve, maintain, or recover health, to cope with health problems, and to achieve the best possible quality of life, whatever their disease or disability,until death.

--Royal College of Nusing UK [6]


Nursing is the protection,promotion, and optimization of health and injury; alleviation of suffering through the diagnosis and treatment of human responses; and advocacy in health care for individuals, families, communities, and populations.

--American Nuerses Association


The unique function of the nurse is to assist the individual,sick or well,in the performance of those activities contributing to health or its recovery (or to peaceful death) that would peform unaided if he had the necessary streght, will or knowledge.

--Virginia Avenel Henderson


  • Nursing theory and process


In general ters,the nursing process is the method used to assess and diagnose needs, plan and implement interventions, and evaluate the outcomes of the care provided. Like other disciplines, the profesion has developed different theories derived from sometimes diverse philosophical beliefs and paradigms or worldviews to help nurses direct their activities to accomplish goals. Currenly, two paradigms exist in nursing, the totality paradigm and the simultaneity paradigm.


  • Practice settings


Nurses practice in a wide range of settings, from hospitals to visiting people in their homes and caring for them in schools to research in pharmaceutical companies. Nurses work on occupational health settings ( also called industrial health setting), free-standing clinics and physicians offices, nurse-run clinics,long-term care facilities and camps. They also work on cruise ships and in military service. Nurses act as advisers and consultants to the healthcare and insurance industries. Some are attorneys and others work with attorneys as legal nurse consultants, reviewing patient records to assure that adequate care was provided and testifying in court. Nurse can work on a temporary basis,which involves doing shifts without a contact in a variety of settings, sometimes known as per diem nursing, agency nursing or travel nursing.


  • Regulation of pratice


The pratice of nursing is governed by laws that define a scope of pratice, generally mandated by legislature of the political division within which the nurse practices. Nurses are held legally responsible and accountable for their practice. The standart of care is that of the “prudent nurse”.


  • Nursing specialities


Nursing is the most diverse of all healtculture professions. Nurse practice in a wide range of setting but generally nursing is divided depending on the needs of the person being nursed.

The major divitions are:-

The nursing of people with mental health problems – Psychiatric and mental health nursing

The nursing of people with learning or developmental disabilities – Learning disability nursing (UK)

The nursing of children – Prediatric nursing

The nursing of older adults – Geriatic nursing

The nursing of people in their own homes – home health nursing (US),District nursing and health visiting (UK). See also Live-in nurse

There also specialist area such as cardiac nursing, orthopedic nursing, palliative care, perioperative nursing and oncology nursing or the specialization to cancer.