What is Ramsay Hunt Syndrome?

The Ramsay Hunt syndrome is a medical condition that is primarily caused by a viral agent, herpes zoster. The said medical ailment is also simply referred as Hunt’s syndrome and primarily results to the paralysis of a person’s facial muscles on a specific side where the infection has accumulated.

The condition is believed to be a rare complication of varicella zoster viral infection. The condition is also considered to be a cause of most cases of Bell palsy. In the United States, the occurrence of Ramsay Hunt Syndrome is unknown or not fully supported but is noted to affect 16% of cases of facial palsies to the young children and about 18% in the adults. There is no mortality rate for such condition for it is a self-limiting disease.

The diagnosis of the problem is done through a thorough medical history assessment and physical examination. Taking of a swab sample from the blister in the patient’s ear is a form of diagnostic exam for Ramsay Hunt syndrome. Blood test in identifying the varicella zoster virus is done.

Types

There are three types of Ramsay Hunt Syndrome and they were specifically described by an American neurologist named James Ramsay Hunt in the year 1921. Here are the three types of Ramsay Hunt syndrome:

Ramsay Hunt syndrome type I

This condition is characterized by inclusion of epileptic episodes, tremors, and cognitive impairment. The tremors are observed as intention tremor that affects an extremity, such as the upper limb. The patient shall also experience an unsteady gait and a reduced muscular coordination.

Ramsay Hunt syndrome type II

This is the herpes zoster oticus Hunt syndrome. The reactivation of the previous herpes zoster virus is the common cause of the condition. The disease process involves weakness of the facial nerve along with the burst of erythematous rashes found in the ears, tongue and hard palate.

Ramsay Hunt syndrome type III

This type of Ramsay Hunt syndrome is a less common condition that is induced by a neuropathy involving the palms. This condition is also referred as Hunt’s disease or the Artisan’s palsy.

Symptoms

The condition, Ramsay Hunt syndrome is characterized by these significant signs; painful red rash that are filled with blisters or called vesicles and another is the facial paralysis or weakness on the affected side. But in general, these are the following symptoms of Ramsay Hunt syndrome:

• Rashes that are described as painful by the affected. The areas that the rashes burst out are the eardrum, ear canal, earlobes, and palates.
• One-sided hearing loss
• Vertigo
• One-sided weakness on the side of the face
• Difficulty of chewing food, doing facial expressions, and closing of the affected eye
• Paralysis of the affected side of the face is expected
• Facial drooping or eyelid drooping is observed

Causes

The primary cause of the condition is the viral agent varicella zoster. This viral agent primarily causes chicken pox and shingles. As there has been a previous exposure to the virus, there is a possibility that the person affected shall acquire the syndrome leading to the affectation of the facial nerve.

Those at risk for this condition are the people who have just acquired chickenpox or a varicella infection. The reactivation of the viral agent is most likely. It is best that a person who is also exposed to people with varicella infection should get away from them. The newborns and pregnant women are at risk for acquiring the infection easily. We must protect them by keeping them from harm’s way.

Treatment

The treatment for Ramsay Hunt syndrome is aimed to alleviate the symptoms of the disease. As the condition is self-limiting, we can aim to treat the complaints of the client. Here are the following medications provided for clients:

• Steroids or corticosteroids such as prednisone. This drug is usually prescribed to patients to take for at least a week.
• Antiviral drugs such as acyclovir are provided for seven to ten days.
• Analgesics are also prescribed to clients when pain is intolerable.
• Antivertigo drugs are provided for clients who experience or complain for vertigo.
• Home remedies include those of: keeping the affected area far from infection by cleaning it regularly. Application of cool compresses on the area affected can ease the pain. Keep the eyes moist so to avoid irritation.

Prognosis

The prognosis of the client entirely depends on the severity of the client’s condition. As the patient’s immune system is compromised from the start of the disease, the condition shall then present for a depleted chance of regaining the normal functioning of the affect side of the face. As there is a grave damage to the facial nerve, the result would be in congruence to the affectation. The chance of attaining recovery is high as this makes about 70% rate of full recovery. But once treatment for Ramsay Hunt Syndrome has been delayed, the chances of recovery would drop down.

Complications

The condition presents some complications no matter what the state of the client is. But complications are at high risk when he or she has a low immune system. The following are the possible complications of Ramsay Hunt syndrome:

• Facial permanent disfigurement
• Alteration in the sense of taste
• Infections to the eye can provide damage/ permanent. The cornea of the eye may be damaged that can cause for a blurred vision.
• Neuralgia
• Facial spasms

Ramsay Hunt Syndrome Pictures

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Ramsay Hunt Syndrome Pictures

source: Mayo Foundation

Ramsay Hunt Syndrome Images

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What is Patau Syndrome?

Patau syndrome is a condition that is less common compared to all trisomies. The condition is also known medically as Trisomy 13, meaning that there is an extra chromosome of the 13th. This then results to grave conditions such neurological defects including cardiac heart diseases. The incidence rate for this condition is noted as 1:8,000-12,000 among all live births in the United States. The prognosis of this condition is poor as the mortality rate for those affected is high. It has been noted that about a median survival age for the affected is only 2.5 days. It’s considered a lucky case if the affected child has survived at least 6 months of life and more luckier if they have reached their teens. The young are commonly affected of this condition. Since the condition portrays a great deal of fetal or neonatal demise to the affected.

Symptoms

The condition truly requires an immediate and intensive medical care. Once a person has been diagnosed of the condition, time and effort is essential. As mentioned above, the condition portrays neurological defect and cardiac abnormalities. Here are the following medical deficiencies accompanied by Patau syndrome:

Cardiac anomalies commonly occur. About 80% of Patau syndrome cases result to:

Patent ductus arteriosus – is a cardiac defect that involves an opening between the descending aorta and pulmonary artery. As the result, the affected shall experience decreased activity tolerance and pulmonary congestion as there is increased blood flow to the pulmonary system.

Ventricular septal defect – the cardiac ailment involves an opening communication between the two ventricles of the heart. As this happens, it is expected that the affected would have a reduced systemic blood flow. It is essential that our body system will receive oxygenated blood, but the mechanism of this condition depletes the acquisition of supplemental blood flow to the entire body, especially the vita organs.

Atrial septal defect – as most cases are reported, this cardiac problem would be asymptomatic to some of the affected. What happens to the heart is that there has been an enabling of blood flow between the left and right atria. As a result, the patient shall develop a congested heart and eventually result to other medical conditions.

Dextrocardia – another congenital heart disease that involves interchanging of the normal arrangement of the heart chambers.

Other significant effects of Patau syndrome is facial deformities such as absence of nose or proboscis. Cleft lip or palates are also a possibility. The eyes of the infant may also be affected for it would result to microphthalmia or small eyes. Hypertolerism would develop and it is characterized by the decrease in distance between organs. It may be ocular meaning involving both eyes. Another grave condition that may develop in Patau syndrome is the absence of an eye or both of the eyes of the affected. This condition is medically called anophthalmos. The child may also develop extra fingers and toes, a condition called polydactyly. Low set ears are also observed in the infants. Genital defects are also observed. The urinary system is also not spared, leading to kidney defects and abnormalities.

Causes

The condition is idiopathic in cause. There have been no proofs of the positive cause of the condition. Patau syndrome is only recognized as a condition that involves genetic abnormality or the inclusion of another chromosome, Trisomy 13. But the condition is believed to be precipitated by the increased age of the mother.

Diagnosis

The Patau syndrome can be diagnosed through the evidence of the physical symptoms and presentation. A mere physical examination can help or assist in the diagnosis of the problem. The condition is sometimes compared with another syndrome called Edwards syndrome, so in order to find it as a distinct condition from the other, genetic testing is done. Other tests for Patau syndrome are the following:

1. CT or computed tomography examination – this is an imaging study
2. Magnetic resonance imaging – another form of imaging study, just like CT scan that involves taking picture of the body system and areas of the body.
3. Echocardiogram – this is an ultrasound of the heart. Diagnosis of the heart conditions can assist in the association of Patau syndrome.

Treatment

The treatment for Patau syndrome involves symptomatic management. As the child is suffering from a particular condition that is accompanied by Patau syndrome, the aim of the medical practitioner is to provide relief from the symptoms of the defect.

Surgical intervention is done to patients but on rare cases. This is due to the possibility of death among the affected. As surgical intervention is first withheld in the early months of the child, for their mortality rate is higher compared to those who have developed their immune system. When cases come to a point that there is an emergent need for a surgical intervention, the doctor would resort to such treatment.

As the infant developed facial deformities, providing the child equal care as of a normal child would receive is advised. The parents of the child should also be properly educated and counseled for there is a possibility that they would not accept the condition of their child.

Genetic counseling is essential in the process. This should be discussed with the couple who may have a risk to producing another offspring of the same ailment. Counseling is vital so that they shall be supported emotionally and that options are provided for them.

Life expectancy

As mentioned above, the condition’s prognosis is poor, as this would generate for the affected to a high mortality rate. The expected life for the child with Patau syndrome is 2.5 days. This is such a small number and a tragic result from the condition. According to epidemiological reports, about 82% of the affected would die in a month’s time. A greater percentage presents itself that about 95% of cases of Patau syndrome die within 6 months. There are cases where the child would surpass 6 months, but is considered a very rare possibility.

Facts

• This is a very rare, yet very severe form of chromosomal disorder. As rare at it is, the condition is placed or listed along with the other rare conditions in the Office of Rare Diseases of the National Institutes of Health. In Europe, they noted that cases for this condition are reported to be 1 out of 2,000 persons in the world.
• When the child surpassed the expectancy age, it is expected that he or she shall be mentally retarded.
• Recurrence is indeed a possibility. Genetic counseling is a must to the parents who have had a child with Trisomy 13 or even Down syndrome.
• The condition was first identified and observed by a Danish Physician named Thomas Bartholin. It is only Dr. Klaus Patau that made asserting information and data about the disease, which is why the condition is coined after his name.
• There has been an increasing occurrence of the condition, especially in Europe. It has been noted in the years 2008 and 2009, diagnoses of Patau syndrome were 172, done as a prenatal examination. Because of this, elective abortions were done, while other lost their child through miscarriages and fetal deaths.

Patau Syndrome Pictures

Photos, Images and Pictures of Patau Syndrome…

Patau Syndrome Pictures

source: livingwithtrisomy13.org

Patau Syndrome Photos

source : eyepathologist.com

Patau Syndrome Images

What is Hemolytic Uremic Syndrome?

The Hemolytic Uremic Syndrome is a condition that involves the disease process of hemolytic anemia, uremia and thrombocytopenia or low platelet count. Hemolytic anemia is possible for there is destruction of the red blood cells.

The epidemiological study of hemolytic uremic syndrome provided us a result of increased incidence among patients’ ages six months to four years. The condition was made known when there was an outburst of E. coli contamination. In the United States, about 183 cases where noted of E. coli infection and about 29 cases were positive of hemolytic uremic syndrome. It has also been estimated that cases of hemolytic uremic syndrome in the US is an approximate 2.1 cases of 100,000 people. Another report presented about 29 patients died from an E. coli outbreak that resulted to hemolytic uremic syndrome. It has also been reported that the most affected are the young and the elderly. Prognosis also depends on the affected and the severity of the condition. But approximately, about 3-5% mortality rate is the result of hemolytic uremic syndrome.

Diagnosis of the condition can be done through these laboratory tests. Blood tests can identify for presence of anemia and thrombocytopenia. Blood clotting test would help or assist us in the diagnosis of liver problems. Urinalysis is also another diagnostic exam that can identify for presence of blood in the urine. Not as always indicated, kidney biopsy is made necessary in some cases to rule out other possible conditions. Stool culture is also done in order to identify for presence of the bacterial agent, E. coli.

Symptoms

The condition, hemolytic uremic syndrome is characterized by the following classical manifestations:

• Bloody diarrhea – this is caused by the causative agent E. coli.
• Melena – the difference between melena and bloody diarrhea is that in melena these are formed feces with observable blood while bloody diarrhea is loose stools with blood.
• Oliguria – decreasesd urine output. There is also a tendency that the client shall experience absent urine output.
• Hematuria – blood-stained urine.
• Hemolytic anemia – this would be the destruction of the red blood cells that results to anemia.
• Uremia – the kidney’s function have been altered causing for increased waste products such as creatinine. The creatinine should be excreted from the body normally and should not stay in a person’s system in high levels.
• Neurological changes – uremia’s result to the patient. The accumulation of creatinine in the body can result to this. Profound neurological changes were reported.
• Thrombocytopenia – decreased platelet count.
• Renal failure – the kidney’s function become overworked that it compensates too much resulting to the depletion of its proper function.
• Hypertension, body malaise or weakness is manifested by the affected.
• Nausea and vomiting is supposed to be experienced by clients.

Causes

The condition hemolytic uremic syndrome is typically caused by a gastrointestinal bacterial infection named E. coli. This causative agent is known to cause for other GI problems such as the famous salmonella and shigella. The condition is believed to be acquired by undercooked meat which is contained by the bacteria E. coli. Women are at risk for developing hemolytic uremic syndrome when they are pregnant. The exact mechanism of the condition related to pregnancy is not made known, but case reports that pregnant women developed hemolytic uremic syndrome. Others are also at risk especially when they have acquired pneumonia from the bacteria Streptococcus pneumoniae. Those immunocompromised patients such as those with AIDS are also affected of the disease.

Treatment

The goal for the treatment course of hemolytic uremic syndrome is to lessen the infection. Here are the following medical remedies for hemolytic uremic syndrome:

Monoclonal antibodies

These are indicated for treating hemolytic uremic syndrome. This shall assist in the normal process of renal function.

Antibiotic

Treatment for E. coli is done by the giving of antibiotics.

Dialysis

This may be needed as renal failure is one of the common manifestations of the disease.

Plasmapharesis

This is a treatment of choice for hemolytic uremic syndrome.

Blood transfusion

As thrombocytopenia is manifested, transfusions of fresh frozen plasma.

Prevention

One should be careful with what they eat. Food preparation should also be observed clean so that incidence of acquiring the bacterial agent shall be far from happening. Health teaching is also essential in the process so that future cases shall be avoided or decreased.

As proper treatment has been provided to the client, their chance of surviving the disease process is high. About 90% is the survival rate for clients who are at their acute phase. Worst case scenarios include patients having about 9% chance of developing end stage renal disease, a hard to manage medical condition. Other patients even require a life-long treatment of hemodialysis as the case have gone to its worst. Complications such as uncontrolled high blood pressure, paralysis and even blindness are noted.

What is Dandy Walker Syndrome?

The Dandy Walker syndrome or also known as Dandy Walker complex is a medical condition that involves congenital malformation or deformity of the brain. The part of the brain which is affected is the cerebellum and its key fluid protector. There is also a possibiltity that there is partition of the brain absent, even worst is the complete absence of a part. The name Dandy Walker syndrome is made possible by Walter Dandy and Arthur Walker.

This medical condition is involved in the enlargement of one of the ventricles of the brain, called the fourth ventricle. This is also characterized by the absence of the part of the brain that is responsible for a person’s coordination. It has been reported that the condition generally affects 1 out of 25, 000 to 35,000 live births. Women are more affected than men. As also expected, recurrence may happen as for it is considered as a genetically acquired condition.

The condition is classified according to the following:

Dandy walker syndrome malformation

This is believed the most severe form or presentation of the condition. Its complication includes hydrocephalus and spina bifida, affectation of the spine.

Dandy walker mega cisterna

This is characterized by the presence of large quantities of cerebrospinal fluid in the cisterna magna.

Dandy Walker variant

This is a less severe form of malformation. When Dandy Walker syndrome is confused from what classification it belongs to, DWS variant is then the provided as the final diagnosis.

Symptoms

Those who are unfortunate to acquire Dandy Walker syndrome is believed to be characterized by the following symptoms:

• Depleted motor development in infants
• Hydrocephalus
• Increased irritability
• Nausea and vomiting
• Convulsions
• Lack of muscle coordination
• Possible jerky movements of the eyes
• Deformities may be present on the patient’s face, limbs, extremities, and heart.

Causes

The direct cause of Dandy Walker syndrome is not known or idiopathic in sense. This has been the major report among cases of Dandy Walker syndrome. But according to studies, the condition is considered as autosomal recessive. Environmental factors have also been noted to be part as a predisposing factor for Dandy Walker syndrome. The proposed environmental factors are the conditions that a pregnant woman acquires during her first trimester are rubella, acquisition of cytomegalovirus, and taking or warfarin.

Diagnosis

Dandy Walker Syndrome can be diagnosed through the following examinations:

1. MRI – This has been noted as one of the best diagnostic exam for neurological or CNS related conditions.
2. CT scan – This procedure assists in the diagnosis of Dandy Walker syndrome. There are 3D studies that are good in the evaluation process of DWS.
3. Angiography –This can demonstrate or provide the features of malformations of Dandy Walker syndrome.
4. Ultrasonography – The malformation can be identified through the antenatal ultrasound.

Treatment

Treatment for this condition involves surgical intervention such as placing a shunt in the patient’s skull in order to reduce the increasing pressure in the brain, intracranial pressure. Ventriculoperitoneal (treats ventricles) or cystoperitoneal (treats cysts) shunts are the said procedures. This will relieve the excessive CSF in the patient’s skull by draining them out.

The characteristics of the syndrome are treated. Once a patient is having a seizure, management for these episodes should be known. The care for patients who are seizure precautionary are the following:

• Do not expose the child to bright lights. This can precipitate for a seizure episode.
• When a seizure is in progress, place the child in a low position in order to avoid drastic results from a fall.
• Do not attempt to place anything in the mouth of the patient such as tongue depressor once the seizure has taken place, it should be place prior to a seizure episode.
• During an episode, place the patient in a sidelying position to avoid aspiration.
• Do not restrain the patient while on seizure.

There are also various therapies provided for clients who are in their recovery phase. These therapies are the following:

Occupational and physical therapy – These therapies will assist the affected as the manifestations of the disease process are highly affecting the coordination and full attainment of movement of the child.

Special education – Children who survived the years of Dandy Walker syndrome requires special education as this condition results to mental affectation.

Speech therapy – As part of the special education, speech therapy is also required so to attain at least part of the goal for assisting patients with Dandy Walker syndrome.

Genetic counseling – This is an essential part of educating the needy. As the condition places a risk to the parents of a child with Dandy Walker syndrome, they need to be aware of this and be counseled.

Life expectancy

Those affected of Dandy Walker syndrome are most likely to have a dependent life expectancy. As research shows, the longevity of their lives depends on the classification of Dandy Walker syndrome. When the condition is at its severe state, then it’s expected to have a poor prognosis and a shorter life expectancy range. As the manifestations of the disease is much grave, then a person shall have a shorter life span. Seizures are the most likely outcome of the condition that can result for the increasing difficulties of the patient. The condition can even result to lifelong complications that lead to an increased mortality of the affected.

Dandy Walker Syndrome Pictures

Photos, Images and Pictures of Dandy Walker Syndrome…

Dandy Walker Syndrome Picture (1)

Source: medindia.net

Dandy Walker Syndrome Picture (2)

Source: medindia.net

What is Broken Heart Syndrome?

The Broken Heart Syndrome is a condition that is a temporary heart problem caused or triggered by events in life that are stressful or hard to handle. Even news that is favorable to the ears of the affected could cause broken heart syndrome. As already mentioned, the condition is temporary that it may only last for a week or even less. The condition is also referred as stress cardiomyopathy. In Japan, the condition is known and originally termed as takotsubo cardiomyopathy. The condition shouldn’t be identified as a heart attack, as what most people would confuse about. The distinct difference between broken heart syndrome and heart attack is that BHS is precipitated by stressful life events while heart attack involves oxygen depletion to the heart due to blockage and the like. Since it is commonly associated with heart attack or myocardial infarction, treatment for both is similar in some ways.

According to reports, the condition is said to be common in women who have advanced ages. Those who are 50 years old and older are the common victims of the said heart condition. Young women are not that affected. This is an uncommon condition that only accounts for about 1% to 2% of the total population.

Symptoms

As most patients are asymptomatic of the condition, broken heart syndrome would not spare others of its presenting symptoms. These are the common signs and symptoms of broken heart syndrome:

• Chest pain
• Shortness of breath
• Increased and irregular heartbeat
• Body malaise

As the presenting symptoms persist, one should consult the doctor for it may indicate for another cardiac problem which is more fatal than the broken heart syndrome. Complications are also noted from this condition. Arrhythmias may develop. There is also a possibility that the person shall develop pulmonary edema or fluid accumulation in the lungs. Recurrence of the broken heart syndrome is likely, especially if there is another stressful event.

Causes

The exact mechanism and cause for broken heart syndrome is yet to be found with definite answers. As unclear as it is, the condition is believed to be caused by hormonal changes or increased stress hormones, such as adrenaline rush. It has been reported that about 85% of all cases of broken heart syndrome, stress is the cause of the phenomenon. Other stressors include grief, anger, fear, conflicts and personal problems. Constriction is the common side effect of increase epinephrine and also there would be an increase of the heart rate for compensation. This can then potentially damage a person’s heart or cause for a cardiac condition.

It is also noted that there are precipitating factors responsible for broken heart syndrome and these are:

• Death of a loved one
• Tragic news
• Domestic violence
• Bankruptcy
• Accident or a series of unfortunate events
• Asthma attacks

Those at risk for this condition are women especially those who are 50 years old and beyond.

Diagnosis

The condition can be diagnosed through the following examinations:

Physical examination or assessment

This is a standard protocol for any medical condition. As this is done, the gathering of pertinent data of the client’s medical history is essential. As reported, those affected with broken heart syndrome are people who have no symptoms or are symptomatic.

Electrocardiogram

This test involves recording of the client’s electrical impulses that facilitates the cardiac rhythm and frequency. Electrical signals are recorded and would help assess the patient’s cardiac status.

Echocardiogram

This is an ultrasound of the heart. This would involve the imaging test of the heart and would then assist in the diagnosis of any heart condition.

Chest x-ray

The test involves checking for the heart’s shape with the use of radiographic rays. The x-ray can identify if there is an enlargement of the heart.

Blood chemistry

This would give certain levels of cardiac enzymes in the blood. As this is attained, assistance in the final diagnosis of the problem shall be attained.

Treatment

The aim of the treatment course for broken heart syndrome is to alleviate the presenting symptoms. There has been no standard treatment for broken heart syndrome since it has been precipitated by life events such as this. As for that, the treatment for broken heart syndrome is similar with the treatment done to those who just had a heart attack. Here is the treatment for broken heart syndrome:

Medications

ACE inhibitors or angiotensin-converting enzyme. The drug is aimed in alleviating high blood pressure which is sometimes associated with broken heart syndrome. Beta blockers are also indicated for increased blood pressure. These drugs are indicated for they help and assist in the reduction of cardiac workload that complicates the case of broken heart syndrome.

Prevention

As there is a possibility of recurrence. About 5% of all cases who have suffered broken heart syndrome have most likely developed the condition the second or third time around. The treatment course for the condition is aimed in therapeutic treatments such as relaxation techniques and long-term drug treatment. Living a stress-free life can also assist in the avoidance of broken heart syndrome. Having a healthy lifestyle can make or step one ahead from such condition. Eating a healthy diet is important as this can also be precipitated for people to develop cardiac problems. The condition presents a potential problem and shouldn’t be taken lightly as what most people do. Seeking medical advice is important as for it can assist the person in an emergent manner.

What is Apert Syndrome?

Apert Syndrome is a rather rare autosomal dominant disorder described by the French physician named Eugene Apert in 1906. This syndrome is otherwise known as acrocephalosyndactylia.

The following are the main characteristic features of patient with Apert syndrome:

1. Craniosynostosis
2. Craniofacial anomalies
3. Severe symmetrical syndactyly of the hands and feet

Studies show that the prevalence rate of this syndrome is estimated at 1:65,000 live births. In addition, Asians are have the highest prevalence rate followed by the Hispanics.

Symptoms

Increased intracranial pressure (ICP)

This is characterized by headache and vomiting

Upper airway problems

Stridor and sleep apnea are the common pulmonary symptoms felt by the patient

Conjunctivitis

• This can result to visual problems secondary to corneal injury.
• Once there is damage to the cornea, it will lead to infection such as conjunctivitis and keratitis

Mental retardation

Physical Abnormalities

Skull and Face

• Craniostenosis affecting most commonly the coronal sutures which may lead to the development of acrocephaly, brachycephaly, flat occiput, and high forehead.
• Large and delayed closing of fontanelles.
• Gaping midline defect
• Cloverleaf skull anomaly is present although this happens only in 4 percent of infants.
• Facial features that are common include horizontal grooves above the supraorbital ridges, break in the continuity of the eyebrows, the mouth’s resting shape is trapezoid.
• Flat, symmetric face
• Maxillary hypoplasia

Eyes, Ears, Nose and Mouth

• Low-set ears and may experience conductive hearing loss.
• The eyes’ palpebral fissure is directed downward, shallow orbits, proptosis, exophthalmos, strabismus, amblyopia, luxation of the eye globes, glaucoma, etc.
• Depressed nasal bridge of the nose
• The mouth has a prominent mandible, down-turned corners, arched palate, cleft palate, etc.
• Crowded upper teeth, delayed dentition

Extremities and Digits

• The upper limbs are more commonly affected by the upper limb
• Syndactyly
• Repetitive radial deviation or a hitchhiker’s position can lead to the development of an abnormal phalanx
• Brachydactyly
• The nails are contiguous (synonchia)
• Some people possess subacromial dimples
• In severe cases, the mobility of the shoulder joint is further limited to its major patterns of movement such as abduction, forward flexion, external rotation, etc.
• Decreased elbow movement is also apparent most commonly elbow extension, flexion, pronation, and supination.
• Short humerus or bones in the arm
• Genu valgum or knocked knees

Central Nervous System

• Level of intelligence range from normal to mild mental retardation
• Includes CNS malformations such as megalencephaly, agenesis of the corpus callosum, malformed limbic structures, problems in the development of the cerebral white matter, abnormalities in the pyramidal tracts, etc.
• Papilledema and optic atrophy with loss of vision occurs secondary to increased intracranial pressure.

Other Defects

• Cervical spinal fusion which are present at birth
• Ankylosis of the shoulder, elbow, and the hip joint
• Abnormalities in the tracheal cartilage
• Rhizomelia

Skin

• Hyperhidrosis
• Brittle nails
• Acneiform skin eruptions
• Discontinuity of the eyebrows
• Hypopigmentation
• Hyperkeratosis – thickening of the skin
• Paronychial infection – superficial infection of the nail plate’s lateral epithelium
• Excessive wrinkling of the forehead skin
• Dimpling of the skin on the knuckles, shoulders, and elbow

Cardiovascular

• Atrial septal defect – this is a congenital defect that allows blood to freely flow between the left and right atria
• Patent ductus arteriosus – there is no closure between the descending thoracic aorta and the pulmonary artery
• Ventricular septal defect – there is a defect in the ventricular septum, which divides the left and right ventricles of the heart
• Pulmonary stenosis – narrowing of the pulmonic valve causing difficulty in the blood flow from the right ventricle to the lungs
• Overriding aorta – in this situation, the aorta is situated directly over a ventricular septal defect
• Coarctation of the aorta – the aorta narrows on the area of insertion of the ductus arteriosus
• Dextrocardia – the heart is situated on the right side of the body instead of its normal orientation which is slightly pointing to the left
• Tetralogy of Fallot – this is a combination of four congenital anomalies affecting the heart and is common in blue baby syndrome

Genitourinary

• Polycystic pelvis
• Renal pelvis duplication
• Bladder neck necrosis
• Absence of a vagina
• Prominent labia majora
• Enlargement of the clitoris
• Absence of one or both of the testes

Causes

The cause of Apert Syndrome is caused by mutations of the gene called fibroblast growth factor 2 or FGFR2. Mutations of this gene lead to the early closure of some bony structures of the skull.

Treatment

The medical management used to treat this syndrome is as follows:

• Protect the cornea such as applying lubricating ointments in the eyes at bedtime to prevent dissecation. Artificial teardrops can also be used during the day.
• Manage respiratory problems such as nasal secretions, upper airway infection, careful use of nasal decongestants
• Polysomography – this is currently the most reliable method of monitoring the presence of sleep apnea
• Antimicrobial therapy – this is used to treat chronic middle ear effusion that resulted to bilateral conductive hearing loss
• Psychological and Social Challenges – this should managed by proper emotional adjustments.
• Surgery has a great impact on how these patients would at least be able to face the deficits in their physical features.

Facts

The fact about Apert syndrome is that it is a result of a genetic mutation; therefore it can be passed down from one generation to another. If your family has a history of this disorder and you are planning to get pregnant, it is recommended to seek genetic counseling to take preventive measures and preparations.

Life Expectancy

Based on studies, the life expectancy of these patients follows a normal course; however, the complications of this disorder might pose life-threatening effects on one’s health.

Apert Syndrome Pictures

Apert Syndrome Pictures

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Apert Syndrome Photos

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Apert Syndrome Images

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Apert Syndrome Pics

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What is an Empty Nest Syndrome?

Empty nest syndrome is a psychological condition that affects parents, usually the mothers, when their children leave home. Empty nest syndrome is usually common in autumn, when a large number of students go to college and universities. One main reason why mothers are always associated with empty nest syndrome is due to the menopausal stage most women experience. And based on this, empty nest syndrome has more impact on stay-at-home moms compared to working moms; working moms have more chances to vent to others what they really feel and somehow feel comfort at the end of the day.

Symptoms

Depression

This is the most common symptom seen in people who are experiencing empty nest syndrome. Afflicted individuals show excessive crying, withdrawn from normal, routine activities and duties, from friends, decreased energy and lack of interest, difficulty sleeping, and persistent sad mood.

Affected individuals may feel that they are useless

Most parents, especially stay-at-home parents, have their focus on their children when they are still with them. Their day-to-today activities evolved around their children that when they leave home, these parents feel useless already because they will not be doing the same thing anymore, they don’t have their children to serve, and they think their world had stopped when their children left.

Feeling of emptiness

Most parents feel their marriage is empty because they don’t have their kids to share their time with. Of course when people get married, to plan to have kids is one of their highest priorities. Now when the time comes that they have to leave their homes, parent would surely feel bad. Some of them resort to experience the empty nest syndrome if they can’t cope with the situation.

Causes

Empty nest syndrome cannot really be considered a medical disorder, but it is just used to describe the feeling parents feel when their children leave home.

Dealing with Empty Nest Syndrome

Despite the fact that this condition is not an outstanding medical disorder, various studies and research have been conducted to somehow address the symptoms parents may feel when they come to a stage in their parent life when their children have to leave them for something better. It may be for personality development, for a job, for a college education, or maybe for starting a new life. The following are the ways on how to deal with this:

Seek Counseling

It helps to talk to someone with regard to our problems and frustrations. The same is true when parents experience depression and sadness when their kids leave home to lead a new life on their own. Counseling is one good way for a person to cope with whatever anxieties and worries he or she may have been experiencing.

Stay Busy

It is better to keep yourself busy on something so that you won’t remember the sadness of the situation. Immerse yourself in things like sports activities, cooking, meet with friends, etc. These are psychologically therapeutic to the mind and the heart. As soon as you have set your mind to feel good about the situation, it will manifest in your appearance the look of calmness, beauty, and being content.

Create Friendship

In the absence of the children, now it is about time for you to see other people. For example, in the village where you are living, if you are not used to joining clubs and meetings like within the homeowners’ association, then this is high time for you to do so. Perhaps you might need to befriend a neighbor that you seldom talk with. Or maybe go out with officemates after work and talk about anything interesting.

Keep in Touch

In the advent of high technology, keeping in touch with loved ones is no longer a problem. The Internet has linked so many people around the world, and families are not an exception. For example, people who work in other countries make it a point to meet online. This is of course done virtually with the help of the Internet. Exchange of communication such as email, text messages, phone calls, and the use of social networks like Facebook and Twitter are just a few of the numerous ways on how to keep in touch.

Stay Positive

Always maintain a positive outlook in life. Instead of dwelling on the negative side of things, why not look at the brighter side of everything? For instance, your children left your home for something that they want to do for themselves; instead of feeling bad about it, why not think of it as an opportunity for you to do some things you’ve been wanting to do for yourself. What about planning a trip for both you and your husband? Or maybe for you and your friends? Aside from this, being alone now would also help you discover more things about yourself. Most importantly, you would have some more precious time for yourself and your husband. This is a breather of the routine parenting duties that you’ve been doing for fifteen or twenty years already. You can just look back and take a glimpse of what have you been as a mother or as a father . Indeed, this point in a parent’s life is something one has to take lightly and positively.

As what they say, prevention is better than cure. All of those who have children should be prepared to the fact that someday, children will come and leave you and create a new life on their own—away from their parents. This is a cycle, so this is not going to end. The only and the most practical way to address issues such as these is to help ourselves accept that this is going to happen sooner or later. One has to acknowledge that children will not need parents forever in their lives. Of course they seek help from time to time, but not every day. In addition, anticipate times like this to happen so that you can also plan your life ahead. At least when the situation is there in front of you, you will never be overwhelmed of the situation and be able to accept it as it is.

What is Gilbert’s Syndrome?

Gilbert’s Syndrome is a hereditary condition that involves an increase of serum bilirubin in the body. As this happens, the result would be yellow discoloration of the skin called jaundice. The condition is also referred as benign unconjugated bilirubinemia and familial nonheomolytic jaundice. The Gilbert’s syndrome was first identified and described by Augustin Nicolas Gilbert in the year 1901, as this explains the coining of the syndrome’s name. As history tells us, the condition is a common disorder due to a genetic mutation. This means, the condition can be attained through the genetic makeup we acquire from both of our parents. Epidemiological reports have stated that this condition is common in the United States and in some areas of Europe. About 3 to 7% of those affected of Gilbert’s syndrome are from the United States. The number of cases has varied from time, as the time increases the number also does. As reported, the condition is common in men than in women. It has been noted that 3 out of the affected, two are men.

In order to diagnose such condition, blood tests are done. As the result shows that there’s an elevation of unconjugated bilirubin in the bloodstream, Gilbert’s syndrome is expected. The normal serum bilirubin level is between 1.2 to 5.3 mg/dL. This lab result is only possible when a person has had fasting for two days, as this diagnostic exam demands of for an accurate result. A liver function test is done in order to assess the clients’ liver capabilities. Testing for the serum lactate dehydrogenase levels is essential. An elevation of the said blood component would suggest for hemolysis. Then we can rule out for the almost-the-same condition. Another test is known as the nicotinic acid test. This involves administration of nicotinic acid, as a result other conditions can be ruled out. Other test would involve liver biopsy test, but is a rare procedure for Gilbert’s syndrome.

Symptoms

The condition’s presenting symptoms include only the yellowish discoloration of the skin. It may also include discoloration of the whites of the eyes. To summarize the symptoms, enumeration of the symptoms is as follows:

• Yellow discoloration of the skin or known as jaundice
• Yellow discoloration of the sclera
• Weakness and fatigue
• Abdominal pain

The condition shouldn’t be taken lightly for this can voice out or indicate other serious conditions of the liver. In order that indicative treatment is provided to clients, seeking medical advice once the symptoms present should be done.

Causes

Gilbert’s syndrome is characterized by the increased levels of bilirubin. Bilirubin is not a harmful substance of the body, but with increased levels, this can bring an alarm to the person for it can result to discoloration. Bilirubin is a result of the breakdown of our red blood cells. Normally, liver enzymes of the body break down the bilirubin as this is usually excreted in our stools. Bilirubin gives color to the stools and urine for breakdown results to bile, but as they are excreted small amounts of bilirubin stays in the blood.

As mentioned above, the condition is acquired genetically. The genetic component responsible for this syndrome is having the abnormal gene promoter region for UGT1A gene, an inherited trait from a parent. This suggests that the condition is an autosomal recessive disorder. The condition cannot be acquired if only one of the parents have the abnormal gene.

Those at risk of condition are the following:

• Immunocompromised patients or prone to illnesses
• Those who have a very low calorie intake
• Dehydrated patients
• Those who are in a lot of stress
• Those who undergo strenuous exercises

Treatment

Direct treatment for Gilbert’s syndrome is not necessary. The aim of the doctor is to alleviate the client’s symptoms. But these are advised to patients in order to attain health:

Have a healthy diet

Eat healthy foods such a fruits and vegetables. Do not leave out calories in the diet; they are still important to one’s health. One should follow the liver cleansing diet. This would include eating of whole grains, fruits and vegetables. Have plenty to drink in a day. This is advised to patients as this facilitates cleansing. About 8 glasses a day should be the least number for water therapy. Avoid fatty foods such as those foods that are deep fried. Limit intake of chicken and eggs for they may contain artificial hormones that can damage the liver. Taking of artificial sweeteners is not advised.

Live a stress-free life

Manage stress when it comes. Attend yoga sessions as this can help you manage stress.

The condition is considered benign. The condition has good prognosis. It is still important that the one would seek medical advice as to identify the problem accordingly.

What is an Irlen Syndrome?

Irlen Syndrome, formerly known as Scotopic Sensitivity Syndrome, is a type of visual perception abnormality. This is not an optical problem but rather, a problem on how the nervous system perceives a visual information. This was first discovered by Helen Irlen, an educational psychologist, back in the 1980s. People who are diagnosed with Irlen Syndrome tend to see words as blurry, have patterns, and appear to move. Therefore, compared to normal individuals, patients with Irlen syndrome perceive a printed page differently and must constantly adjust to distortions seen on the page.

Symptoms

The following are symptoms of Irlen Syndrome:

1. Weak depth perception – patient will have difficulty judging accurate distances making it difficult, not to mention dangerous, for them to ambulate on stairs, escalators, ball games, etc.
2. Sensitivity to light – fluorescent light, sunlight, bright lights, glares, etc.
3. Attention deficit disorders
   • Problems in tasks that need concentration such as reading, computer work, tests and examinations are evident in these patients lead to poor concentration and weak academic performance in school for children.
4. Eyes strain
   • This is often common and physical symptoms vary from fatigue, drowsiness, headaches, distractibility, hyperactivity and stress.
5. Contrast and Color Sensitivity
   • Patient are usually hypersensitive to contrast in colors such as a black print in a white paper and complicated patterns such as stripes and polka dots.
6. Restricted Span
   • Can’t track words on a line thereby skipping some of them
   • This is a potential problem in recognizing and understanding facial expressions and body language
   • Exhibits great hesitancy in reading
   • Trouble copying words
   • Writes in random spacing and in upward and downward direction
   • Spells words inconsistently

Causes

What is exactly the cause of Irlen Syndrome? According to some studies, the cause of Irlen Syndrome is not yet known; however, there this syndrome is linked to a problem in the retina or the visual cortex in the brain.

The visual system has two separate processing pathways; namely, the slow (parvocellular) and the fast (magnocellular). The slow pathway on the other hand is responsible for determining color, fine details, and low contrast images. The fast pathway’s main function is to regulate movement, depth, and high contrast images. In addition, the fast pathway also inhibits the slow pathway when the eyes are in motion so that the image of what was previously being viewed will not persist. In the case of Irlen syndrome, it seems that the patient has problems with the fast pathway. In turn, the fast pathway can no longer inhibit the slow pathway; therefore the images viewed by the slow pathway persist when the eyes are moved. As a result, the brain sees overlapping images. In severe cases, the brain perceives images that are no longer there. That is why the person may see dancing or floating images, blurring, or forming strange patterns. In the less severe cases, the brain of an affected person needs more effort in trying to interpret the images perceived that is why the individual may experience headaches, eyestrain, and fatigue.

Treatment

Before treating an individual with Irlen Syndrome, he or she has to undergo a screening which involves challenging the visual system. Helen Irlen developed the use of filters in altering the light waves, which minimizes the distortions created by this light, which will then aid in improving the reading and comprehension abilities of the individual.

• Color overlays are used to adjust the contrast between the words and the page
• Color overlays are then placed over the page while reading
• Use of tinted Irlen filters allows the person with Irlen syndrome to see words in a page clearly, which makes reading more efficient and easier.

Irlen Syndrome Test

Test I

The Irlen syndrome Test consist of two parts. The first is to determine whether you have the symptoms as indicated in the symptoms section.

Test II

This is the second component of the Irlen syndrome test which is really easy as the questions are quite simple. In fact, one can administer this test on his/her own.

Do any of the following situations bother your eyes, head, or stomach? Or make you feel dizzy, tired, nervous, and irritable?

1. Reading books for longer periods?
2. Reading on a computer for longer periods?
3. Reading under fluorescent lights?
4. Reading black ink on glossy white paper?
5. Intensive visual activities (cross-stitching, crossword puzzles)?
6. Sunlight?
7. Bright lights?
8. Car headlights?
9. Complicated patterns like stripes?
10. Neon colors?
11. Do you often wear sunglasses to protect yourself from certain glare such as the sunlight?
12. Become drowsy or tired under bright lights?
13. Experience headache from fluorescent lights?
14. Feeling clumsy and restless under fluorescent lights?
15. Level of performance in whatever you’re doing declines when under bright or fluorescent light?
16. Feeling either that there is it’s too much light or too little when reading?
17. Find it comfortable reading in dim light?

Although the symptoms presented are not limited to Irlen Syndrome because there are really instances that we need to answer “yes” to some of the series of questions, but if you think what you are experiencing is beyond the usual, then it is imperative to visit to the doctor for proper screening and medical checkup.

It is indeed important to be wary about our health because this is one big wealth no one can take away from us, if only we are extra careful. The eyes are considered to be very vital in how we live our lives because we can see the wonders of life through our eyes. A simple headache or migraine can mean something more complicated or just a prelude to something more serious that is bound to happen to our health. So it is very important to be very watchful with the signs and symptoms that we think would warrant a medical examination with your physician. Let’s not waste the chance of living a beautiful lifetime just because of the discomfort we feel even in the slightest act of reading.

What is Pierre Robin Syndrome?

This is condition present at birth, wherein infants are born with micrograthia or unusually small lower jaw, resulting to the tongue that is drawn back into the throat and breathing difficulties. Studies show that the prevalence rate for this condition is 1 in every 8,500 live births, and the male to female ratio is 1:1. In addition, it is possible that Pierre Robin Syndrome can be transmitted through autosomal recessive inheritance. Pierre Robin syndrome is also known in various names such as the following:

• Pierre Robin Malformation Sequence
• Robin Anomalad
• Cleft Palate, Micrognathia, and Glossoptosis

Symptoms

The following are the symptoms of Pierre Robin Syndrome

Micrograthia

• Smaller than normal jaw size
• This is seen in 91 percent of patients

Characteristics:

• Inferior dental arch is retracted behind the superior arch
• The mandible has smaller body, obtuse genial angle, and condyles are posteriorly located

Glossoptosis

Retraction of the tongue occurs in 70-85 percent of case

• Cleft soft palate
• High-arched palate
• Larger tongue compared to the jaw
• Natal teeth – teeth already appears by the time the baby is born
• Otitis media – ear infection
• Small opening in the roof of the mouth, which might cause choking

The occurrence of both small jaw size and the retraction of the tongue will usually cause severe respiratory and feeding difficulty in the newborn

Other Systemic manifestations include the following:

• Ocular anomalies
• Cardiovascular findings such as patent ductus arteriosus, pulmonary stenosis, benign murmurs, etc.
• Involvement of the musculoskeletal system are as follows:

Upper Limb:

• Dysplastic phalanges
• Polydactyly
• Clinodactyly
• Hypersensitive joints
• Oligodactyly

Lower extremities

• Foot anomalies
• Femoral malformations
• Hip anomalies
• Knee deformities
• Tibial abnormalities

Vertebral column:

• Scoliosis
• Excessive kyphosis or lordosis
• Vertebral dysplasia
• Coccygeal sinus

Causes

Generally, it is believed that the cause of this condition is unknown, however, there have been various theories formulated to explain its origin.

Mechanical Theory

• This most accepted theory explains that the cleft palate, the first event that happens in patients with Pierre Robin syndrome, occurs between the seventh and eleventh week of gestation. During these months, the tongue is high in the oral cavity, forming a cleft in the palate to prevent the closure of the palatal shelves.
• Through this theory, it thus explains the inverted U-shaped cleft and the absence of the associated cleft lip. The development of cleft palate is also associated with the condition in pregnancy called oligohydramnios, wherein there is deficiency of the amniotic fluid causing some shin deformation

Neurological Maturation Theory

• This theory supports the idea that there has been a delay neurological maturation as noted in the electromyography testing on the muscles of the tongue, pharyngeal pillars, and the palate as well as a lag in the conduction of the hypoglossal nerve, which is one of the nerves that innervate the tongue.

Rhombencephalic Dysneurulation Theory

The disorganization of the motor regulation of the hindbrain or the rhombencephalus causes major problems of ontogenesis

Diagnosis

The best way to diagnose a newborn with Pierre Robin Syndrome is through physical examination. A health care provider can already identify signs and symptoms of this condition during any physical exam. However, it is very much recommended to consult a genetics specialist to rule out other problems that are associated with this syndrome.

The physician is expected to perform thorough examination of the patient and may need exams tests to establish the final diagnosis

Treatment

For the treatment of this syndrome, the following should be observed:

• Do not put the infants on their back because this predisposes them to choking because their tongue will fall backward and obstructs the airway.
• In some cases, the patient may need a tube placed through the nose and into the airways to avoid airway obstruction.
• Surgery is needed in severe cases to prevent a blockage in the upper airway. A tracheotomy or a hole in the anterior neck might be needed to facilitate breathing and feeding.

Prognosis

Based on various evidence-based studies, infants affected with this syndrome grow into normal development and size; however, it has been found out globally that the child is often below average size although a bit slightly. This is brought about by chronic deficiency in the distribution of oxygen throughout the body secondary to difficulty in breathing and feeding brought about by the syndrome.

But studies have shown that as long as breathing and feeding difficulties are overcome while in infancy, the prognosis is quite good, and there is a very high possibility that the child will lead to a healthy and normal adult life.

Since the cause of this condition is unknown, there are also no known ways on how to prevent the occurrence of Pierre Robin syndrome. However, based on the theories formulated in an attempt to explain the cause of this condition, perhaps it is imperative for the pregnant mother to take extra caution with her health during the delicate stages of pregnancy. One theories presented is that the cause of this defect is related to the deficiency of amniotic fluid in the womb during pregnancy. Proper and sufficient prenatal care should be able to address this problem because doctors will surely be able to take action on how to manage this. In fact, Cochrane Review concluded that simple maternal rehydration seems to increase the amniotic fluid and may be a great benefit in the management of oligohydramnios. In addition, severe cases of oligohydramnios can be managed through amniofusion during labor to prevent cord compression, which if not addressed promptly, may lead to more serious complications.

Pierre Robin Syndrome Pictures

Pierre Robin Syndrome Pictures

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Pierre Robin Syndrome Photos

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Pierre Robin Syndrome Images

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Pierre Robin Syndrome Pics

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