Kearns Sayre Syndrome Case Studies

3. KH’s hypertension is not adequately controlled. What other intervention might be considered? The other interventions are if there is no well treatment of couple of things, I think there would be damage to the heart, arteries and that could be a heart attack, heart disease, stroke and more.

Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.

L.H. report no concurrent or severe headaches; There was no head trauma, syncope or vertigo. Patient wears corrective lens with no difficulty of vision or diplopia; absent of inflammation, discharge or lesion. Last eye exam was in September of 2016 with no history of glaucoma, cataracts. L.H. denies having any frequent colds, sinusitis, epistaxis and trauma. Patient reports having obstruction stating, “it happens when I am lying down” with an occasional postnasal drip.

It is an inherited genetic disease. It is passed down in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show any symptoms. Around 1 person in every 150 people are thought to be carriers. There are two types of Krabbe disease the infantile and the late on-set. The infantile form, which affects 85 to 90% of people with

Kim Jong Un’s son, K.J. Jr. shocked the world by being born with the Noonan Syndrome! The Noonan syndrome is a condition that normally involves disabilities such as a heart problem found from the start of birth, short stature, a webbed neck, or chest deformities may be seen as well (. This is extremely depressing because K.J. Jr. amazingly beat the odds of one in 1000-2500 births that will have this type of genetic syndrome (Noonan Syndrome Support Group)! The Noonan syndrome is inherited along with birth and anyone may be born with the syndrome regardless of gender. This disease is often found in Canada, Holland, and the United States (Noonan Syndrome Support Group).

The patient has been diagnosed with atrial defibrillation and congestive heart failure. There is no visible jugular vein distention or pulsations on either side of the neck. The patient was not comfortable with removing her sweater, therefore, pulsations, lifts, or heaves were not seen if present. Palpated and auscultated the carotid arteries for vascular sounds, no bruits heard. Heart sounds were auscultated with the bell and diaphragm of the stethoscope. S1 82/min, even and regular. S2 85/min, even and regular. S3 82/min, even and regular. S4 83/even and regular. No murmurs were heard. The apical pulse rate was 92 bmp, regular and was accessed with patient in sitting position and between the 4th and 5th intercostal space. Patient stated

Noonan syndrome is an autosomal dominant genetic disease that affects facial characteristics, heart, skeletal formation, stature, and may other areas of the body. Approximately 1 in 1,000 to 2,500 people are affected by Noonan syndrome. Those affected by this disease have deep grooves around their mouth and nose area, low ears, and wide eyes. Other distinct features of Noonan Syndrome include shorter necks, excess skin around the neck, and low hairlines. A common heart defect associated with this disease is the narrowing of the value that controls blood flow from the heart to the lungs. Although an individual may be affected by this syndrome, most still have a normal intelligence. A mutation occurs on the PTPN11, SOS1, RAF1, KRAS, NRAS,

In 1996, the susceptibility locus for Cowden syndrome was mapped to chromosome 10q22-23, and in 1997, germline mutations in the PTEN gene (phosphatase and tensin homology, deleted on chromosome 10) on 10q23 were first reported in families with this syndrome. Hamartomas in Cowden syndrome affect all three germ cell layers but most commonly arise from ectodermal and endodermal elements. Almost all patients (90% to 100%) have mucocutaneous lesions that include trichilemmomas, acral keratoses, and oral papillomas. Breast lesions affect the majority of female patients and include fibroadenomas, fibrocystic disease, and adenocarcinomas (25% to 50%). Thyroid abnormalities, such as multinodular goiter and follicular adenoma, are found in one half to two thirds of patients. Thyroid carcinoma occurs in 3% to 10% of patients. Macrocephaly, cerebellar gangliocytoma, and genitourinary malformations are also frequent components of Cowden syndrome. Increased risks for endometrial carcinoma and renal cell carcinoma have been added to the operational criteria for Cowden

Kussmaul’s sign can be observed due to increased venous pressure. Heart sounds are usually normal, however a third heart sound referred to as S3 may be heard due to rapid ventricular filling. Regurgitation murmurs may also be heard. EKG abnormalities vary depending on the progression of the disease, but are abnormal in more than 90% of cases (Reardon 2017). Abnormalities include a low voltage QRS most often due to an infiltrative disease, atrial arrhythmias and abnormal ST-T waves. Chest radiography shows a normal cardiac profile with cardiomegaly and bi-atrial enlargement. Pleural effusions may be present as

Noonan Syndrome (autosomal dominant condition) is a fairly common disease, affecting 1 in every 1,000-2,500 people. It is a genetic disorder that causes mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes. The most common mutation is in the PTPN11 gene, accounting for 50% of the Noonan cases. Even though it is a genetic disorder, 1 in 5 people diagnosed will have no known cause for their disorder (GHR,

SAYRE (WENY) - An Owego man has been arrested for allegedly stealing more $16,000 from the Guthrie Robert Packer Hospital in Sayre.

Currently, there are no actual preventative measures that can help against Duane Retraction Syndrome; however, many of the symptoms that develop as a result of DRS can be modified or corrected in an effort to ascertain that the individual’s personal comfort is attended to. Surgeries, such as a medial rectus recession, are available in order to tighten or loosen the eye muscles that control the eye muscles (23). According to Pradeep Sharma and collagues, another option for ways to correct an exotropic strabismus are procedures known as periosteal fixation or extirpation of the lateral rectus. Both of these procedures were shown to correct the atypical head posture as well as the exodeviation by dissecting the lateral rectus from the other eye muscles. Patients who had experiencd tbe periosteal fixation reported an improvement of globe retraction for up to three consecutive years (24).

Klinefelter syndrome is a chromosomal condition that affects male's physical and cognitive development. Males with Klinefelter syndrome don’t know they have it, so they lead normal lives. Klinefelter syndrome occurs in about 1 to 1000 males. The cause of Klinefelter syndrome is the presence of an extra X chromosome in males often occurs when the genetic material in the egg splits unevenly, but it also can happen when the genetic material in the sperm splits unevenly. Men with Klinefelter syndrome don’t have obvious symptoms. Others may have sparse body hair, enlarged breast, and wide hips. Almost all men their testicles remain small. Their voices may not be as deep and they cannot father children.

The patient is on this medication for several different reasons; for coronary heart disease and to reduce the risk for fatal or nonfatal strokes due to the clot already found in K.D.. She is also on this medication for her newly diagnosed heart failure

P is stable teaching of the recommended treatment plan can commence by first providing education regarding his cardiomyopathy and CHF stating, cardiomyopathy develops when the muscle of the heart thickens, stiffens, or enlarges making it difficult for the heart to adequately pump blood to the rest of the body (National Heart, Lung, and Blood Institute [NHLBI], 2016). When the muscle becomes increasingly weaker heart failure (NHLBI, 2016). Reassurance will be given by explaining almost 6 million Americans are living with heart failure and many of them are able maintain a good quality of life by following treatment recommendations and he can be one of them (American Heart Association,