Marfan Syndrome: A Case Study

Week five I wrote about a sperm bank that lost a deceased man's vials of sperm. Grief, sorrow, and suffering were all feelings felt by Sarah Robertson after the loss of her 29 year-old husband, Aaron Robertson. Aaron had passed away from a rare genetic disorder known as Marfan Syndrome. Sarah mourned the death of her husband, but had somewhat comfort in knowing that six vials of her deceased husbands sperm were safely stored at the Reproductive Fertility Center in Los Angeles. As time went on since Aaron passed, Sarah felt she was ready to put his vials of sperm to use. Devastating news awaited Sarah as she was told that all six vials had been reported missing. Sarah and her in-laws are suing the LA clinic and Dr. Peyman Saadat, the owner.

You are letting the provider know what the patient chief complaint or reasoning is to be seen at the office that day. All information the patient has prior will be beneficial for the process of the claim.

Patient complained she was short of breath and experiencing severe pain between her shoulder blades. She stated that she has been feeling nasuseated for the past 3 hours. She states she has a history of stable angina and is currently taking medication as needed. She states she did not take the nitroglycerin because she was not experiencing chest pain, just back pain. She states that her last check-up with the Pulmonologist showed that her EKG did not show any changes since her last visit. She denies episodes of syncope. The patient does report that she tripped over something on the floor, which resulted in her falling and hitting her back on a large table. In addition, she states that her heart rate has been ranging from 130/ 90 to 140/92. Patient states her Primary care physician placed her on blood pressure medication 2 months ago due to the increase.

Claire has been off her medications for the last 4 months. Claire has not been employed for the

What do Michael Phelps, Abraham Lincoln, Osama Bin Laden all have in common? They are all diagnosed with Marfan Syndrome which is a disorder of the connective tissues in the body. It is estimated that about 1 in every 3000-5000 people in the world is diagnosed with this disorder (Frey, 2005), that means about 140 000 000 to 233 333 333 people around the world’s population live with the struggles brought by Marfan syndrome. It may not seem like a big deal since so little of the world is diagnosed, but Marfan syndrome can cause some serious life-threatening symptoms. This report will explore the ins and outs of Marfan syndrome, from what it actually is to diagnostic and treatment techniques.

Employees are expected to return to work immediately upon release by a health care provider or at the expiration of the approved leave of absence. At the end of the leave, the employee will be reinstated to the same or an equivalent position. If the employee does not return to work upon release by a health care provider or at the expiration of the approved leave of absence, the employee will be considered to be absent without authorized leave and subject to disciplinary action, up to and including termination. An employee who has been released by a health care provider to return to work and fails to return to his/her employment may be held responsible for costs incurred by the County

After notifying supervisor Ms. Monica Alvarez on 11-13-15 about the claimant’s allegations and her Workers’ Compensation claim, Ms. Redding received authorization from Ms. Alvarez to have the claimant to be medically treated at the Sunrise Medical

Anna Stork is a 72-year-old white female who was diagnosed with congestive heart failure 2 years ago. She has periodic exacerbations of CHF requiring numerous hospital admissions in the last six months. She has been followed by the Medical Center of Trinity Hospital cardiologist, Dr. D. Patel since the diagnosis. Anna’s past medical history is significant for anterior MI approx. 5 years ago, stent implanted, atrial fibrillation, arthritis, IAD and pacemaker implanted, and CHF. Her surgical history includes; stent, IAD, and pacemaker implanted. She denies any allergy history.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

The patient presented with an acute MI to Westchester Community Hospital on 8/8/15. Unsuccessful attempt at PTCA there, IABP placed and transferred to UH Main Hospital. Had a V Fib cardiac arrest upon arrival, ECG still showing a STEMI and taken directly to the cath lab where she had thrombectomy and 3 stents to an occluded LAD. Echo on 8/10/16 showed an EF of 20%. LifeVest was ordered upon discharge and is being denied by Anthem as not medically necessary.

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

Every individual experience Marfan syndrome differently. Everyone has different combinations of features. Some features of Marfan syndrome are easier to detect than others. These include:

Marfan Syndrome is one of the most common inherited disorders of connective tissue. Marfan Syndrome is a disorder that happens with your connective tissue. This disease is inherited or caused by a mutation in the FBN1 gene. The most common symptom of Marfan Syndrome is Myopia.

Marfan syndrome is a histological disorder that specifically deals with one of the four primary types of tissue known as connective tissue. Marfan syndrome is also considered an autosomal dominant disease, meaning this disorder requires only one parent or donor to carry the abnormal gene for it to be inherited in the offspring. The inheritance of the abnormal gene is the biological basis or genetic trigger that results in a mutation that occurs in the gene named fibrillin-1, or short FBN1. The respective location of gene FBN1 is on chromosome 15. Function of the FBN1 gene includes storing the blueprints for making the glycoprotein fibrillin-1, which is a component of many tissues. When produced, the fibrillin-1 protein exits the cell via transport