PBL 2- FRAGILE X SYNDROME FUNMED PBL WRITE UP ROSHAN RAYMOND INTRODUCTION Fragile X is said to be “the most common cause of inherited intellectual disability”(CDC, 2016) and generally is more prevalent in men than it is in women. This paper will look at the genetic inheritance of Fragile X syndrome but also some general information regarding the genetic disorder. It will also include the methods by which genetic diseases are diagnosed and how genetic counselling is used to aid patients. LEARNING OBJECTIVES Explain process by which GP (general practitioner) obtained the diagnosis The starting point of all patient-GP consultations is by the GP understanding the array of symptoms that a patient possesses, giving them the reason to attend the general practice. Not only does the GP collect this information about the symptoms, but they also aim to understand the chronological order by which the patient has acquired these symptoms and furthermore, the severity of these symptoms. The patient’s illness history and family history is useful as in a test study from a group of “61 patients, for 76% the history led to the final diagnosis”(Peterson et al., 1992). Anders Baerheim proposes a two phase diagnostic process consisting of inferring the possible diagnoses from the patient (abductive phase) and then checking these assumptions with specific tests (deductive phase) (Baerheim, 2001). In this scenario, Baerheims model can be seen as the GP identifies the child’s
Patients would tell the doctor exactly what illness afflicted them and what the treatment was. The issue with self-diagnosing is that patients don’t know how to interpret the information they have. Doctors undergo years of education and training to get their degrees. Proper training enables doctors to understand the information that they have and make an informed diagnoses. When patients self-diagnose, they interrupt the doctor’s thought process and ultimately waste the doctor’s time. At Mercy Urgent Care, time is valuable and there are many patients to see. Self-diagnosing is a substantial issue at Mercy Urgent Care and many other
A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.
Life in the 1950s was a time where when a women was married and has kids she would stay home taking care of the meals, and children. Men would be the ones to go out and find a good job that helps with money problems. Also sometimes married women would hire a nanny to also help around the house. In the 1950s men respected women more than they do today because women were supposed to be beautiful and elegant. Also men were able to be a gentleman around women.
Bowles, M. (2011). American history 1865–present: End of isolation. San Diego, CA: Bridgepoint Education, Inc.
The part of the timeline I feel was most responsible for bringing women’s health to the forefront was during the 1980s and early 1990s. During this time, government policies were changing to include women in scientific studies. The U.S. Public Health Service’s Task Force pushed to include women in biomedical research and clinical trials. The Office of Research on Women’s Health Issues (ORWH) was founded, and the Women’s Health Equity Act was established. The ORWH began to advocate for gender specific research, and the Women’s Health Equity Act provided the funding for that research. Gender specific research meant that women’s health would now be researched independently from that of men, and a new scientific focus would be set on on health
March is Women History Month. This year, 2018, is very significant in term of women history of the US. Women's March in 2017 drew about 3 million people from all walks of life in the US but more in the world. This year’s #MeToo movement spark the women from all over the country to come forward and tell their stories. The stories of abuses, the stories of hope and the stories of dreams.
A patient’s past health history may provide insight into causes of current symptoms. It also cues the nurse to certain risk factors for disease. A past health history includes childhood and adult illnesses, chronic health problems and treatment, and previous surgeries or hospitalizations (Lippincott et al.,2014).
Common complaints like a sore throat is noted as one of the most common complaints for which individuals seek care. The ailment can be related to simple conditions like pharyngitis, laryngitis or tonsillitis but may be associated with more complex conditions and require the implementation of a thorough patient history and physical examination to provide both a timely and accurate diagnosis for the patient to promote optimum patient outcomes (Shepherd, 2013). The condition may also be related to pathogenic infections or environmental exposures (Ruppert & Fay, 2015). First and most importantly one must obtain a thorough history including information related to the onset of symptoms, duration and the severity of the condition, past medical history and current medication history because this information may account for 80% of the information related to the final diagnosis (Shepherd, 2013). Other criteria which must be obtained before diagnosis includes a review of systems during the history and physical exam of the throat, tongue, tonsils, neck and abdomen which includes identifying the presence of pertinent symptoms (Shepherd, 2013). Utilization of resources like the Centor score to determine the need for antibiotic
The Vogue Magazine cover features Lea Michele wearing a pink tank top with a white miniskirt embroidered in colorful patterns. A celebrity is used to intrigue women into reading the magazine by surrounding Lea Michele in bold text that suggests tips on looking younger and healthy. Behind her is the text “Women’s Health” in bold, pink elegant letters. She is wearing a gold bracelet, a necklace, and a gold ring on her fourth finger of her left hand. Her face appears to be glowing as she grins towards the camera with her wavy hair flowing around her. The text surrounding her are in pink and black text in contrast to the white background. Above the magazine cover reads “Your Fast Track To A Flat Belly”.To the non-critical eye, it could be an informative magazine that gives woman an insight on taking care of their body and giving exercising tips.However, it could be implying that women should only look a certain way and should look more youthful to become more desirable.
Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,
Evidences show that is really important to make sure that patients understand the plan of care, the reasons why and what to expect, that way the level of anxiety is decreased and the patient and family members have a clear picture of the diagnosis and plan of care
The data are collected from observation of over 100 patients’ visits, 50 of which were observed and audio taped. The research questions that are asked by Davidson are:
Americans today are faced with a number of health issues, mainly as a result of poor diet, lack of exercise, and lifestyle choices; but, of course, genetics does play a part. My family, for example, has a history of several issues. My father suffers from diabetes and asthma, which my children have as well. My older sister and I both suffer from stress, which is most likely causing our chronic heartburn and my headaches; and, both my husband and I are borderline obese, which is a gateway disease to many others. While some of these issues are linked genetically, many of them are due to lifestyle, which can be viewed as both negative and positive. Negative because we brought these ailments onto ourselves, but positive because we can
During the 18th and 19th century, patriarchy has been responsible for designing women’s role in society. Throughout history, men have been deemed as superior while women have been regarded as inferior. Society has this ideology that women are the sole laborers of a household; they were not granted the same privileges as men. In addition, women have been negatively affected by stereotyping. Women have been portrayed on television as being submissive to men. The depiction of women on television portrays the implications of a societal view of women. From a man's perspective, an ideal woman is a housewife who does all the household duties herself. However, over the years, studies have shown that gender roles have slowly advanced. Women began
d how routine data collected in health and social care informs the planning of care for individuals