Cirrhosis:

An echocardiogram uses sound waves to produce images of your heart. This commonly used test allows your doctor to see how your heart is beating and pumping blood. Your doctor can use the images from an echocardiogram to identify various abnormalities in the heart muscle and valves.

Depending on what information your doctor needs, you may have one of several types of echocardiograms. Each type of echocardiogram has few risks involved.

Why it’s Done:

• Transthoracic echocardiogram. This is a standard, noninvasive echocardiogram. A technician (sonographer) spreads gel on your chest and then presses a device known as a transducer firmly against your skin, aiming an ultrasound beam through your chest to your heart. The transducer records the sound wave echoes your heart produces. A computer converts the echoes into moving images on a monitor. If your lungs or ribs block the view, a small amount of intravenous dye may be used to improve the images.

• Transesophageal echocardiogram. If it’s difficult to get a clear picture of your heart with a standard echocardiogram, your doctor may recommend a transesophageal echocardiogram. In this procedure, a flexible tube containing a transducer is guided down your throat and into your esophagus, which connects your mouth to your stomach. From there, the transducer can obtain more-detailed images of your heart. Your throat will be numbed, and you’ll have medications to help you relax during a transesophageal echocardiogram.

• Doppler echocardiogram. When sound waves bounce off blood cells moving through your heart and blood vessels, they change pitch. These changes (Doppler signals) can help your doctor measure the speed and direction of the blood flow in your heart. Doppler techniques are used in most transthoracic and transesophageal echocardiograms, and they can check blood flow problems and blood pressures in the arteries of your heart that traditional ultrasound might not detect. Sometimes, the blood flow shown on the monitor is colorized to help your doctor pinpoint any problems (color flow echocardiogram).

• Stress echocardiogram. Some heart problems — particularly those involving the coronary arteries that supply blood to your heart muscle — occur only during physical activity. For a stress echocardiogram, ultrasound images of your heart are taken before and immediately after walking on a treadmill or riding a stationary bike. If you’re unable to exercise, you may get an injection of a medication to make your heart work as hard as if you were exercising.

Results:

Your doctor will look for healthy heart valves and chambers, as well as normal heartbeats. Information from the echocardiogram may show:

• Heart size. Weakened or damaged heart valves, high blood pressure or other diseases can cause the chambers of your heart to enlarge. Your doctor can use an echocardiogram to evaluate the need for treatment or monitor treatment effectiveness.
• Pumping strength. An echocardiogram can help your doctor determine your heart’s pumping strength. Specific measurements may include the percentage of blood that’s pumped out of a filled ventricle with each heartbeat (ejection fraction) or the volume of blood pumped by the heart in one minute (cardiac output). If your heart isn’t pumping enough blood to meet your body’s needs, heart failure may be a concern.
• Damage to the heart muscle. During an echocardiogram, your doctor can determine whether all parts of the heart wall are contributing normally to your heart’s pumping activity. Parts that move weakly may have been damaged during a heart attack or be receiving too little oxygen. This may indicate coronary artery disease or various other conditions.
• Valve problems. An echocardiogram shows how your heart valves move as your heart beats. Your doctor can determine if the valves open wide enough for adequate blood flow or close fully to prevent blood leakage. Abnormal blood flow patterns and certain conditions, such as aortic valve stenosis — when the heart’s aortic valve is narrowed — can be detected as well.
• Heart defects. Many heart defects can be detected with an echocardiogram, including problems with the heart chambers, abnormal connections between the heart and major blood vessels, and complex heart defects that are present at birth. Echocardiograms can even be used to monitor a baby’s heart development before birth.

Risks:

There are few risks involved in a standard transthoracic echocardiogram. You may feel some discomfort similar to pulling off an adhesive bandage when the technician removes the electrodes placed on your chest during the procedure.

If you have a transesophageal echocardiogram, your throat may be sore for a few hours afterward. Rarely, the tube may scrape the inside of your throat. Your oxygen level will be monitored during the exam to check for any breathing problems caused by sedation medication.

During a stress echocardiogram, exercise or medication — not the echocardiogram itself — may temporarily cause an irregular heartbeat. Serious complications, such as a heart attack, are rare.

Dyslexia is a specific reading disability due to a defect in the brain’s processing of graphic symbols.

It is a learning disability that alters the way the brain processes written material and is typically characterized by difficulties in word recognition, spelling, and decoding.

People with dyslexia have problems with reading comprehension.

The National Center for Learning Disabilities says that dyslexia is a neurological and often genetic condition, and not the result of poor teaching, instruction, or upbringing.

Dyslexia is not linked to intelligence.

Symptoms of dyslexia

The most common signs and symptoms associated with dyslexia are:

• Learning to read – the child, despite having normal intelligence and receiving proper teaching and parental support, has difficulty learning to read.
• Milestones reached later – the child learns to crawl, walk, talk, and ride a bicycle later than the majority of other kids.
• Speech – apart from being slow to learn to speak, the child commonly mispronounces words, finds rhyming extremely challenging, and does not appear to distinguish between different word sounds.
• Slow at learning sets of data – at school, the child takes much longer than the other children to learn the letters of the alphabet and how they are pronounced. There may also be problems remembering the days of the week, months of the year, colors, and some arithmetic tables.
• Coordination – the child may seem clumsier than their peers. Catching a ball may be difficult.
• Left and right – the child commonly gets “left” and “right” mixed up.
• Reversal – numbers and letters may be reversed without realizing.
• Spelling – might not follow a pattern of progression seen in other children. The child may learn how to spell a word today and completely forget the next day.
• Phonology problems – phonology refers to the speech sounds in a language. If a word has more than two syllables, phonology processing becomes much more difficult. For example, with the word “unfortunately” a person with dyslexia may be able to process the sounds “un” and “ly,” but not the ones in between.
• Concentration span – children with dyslexia commonly find it hard to concentrate. Many adults with dyslexia say this is because, after a few minutes of non-stop struggling, the child is mentally exhausted. A higher number of children with dyslexia also have ADHD (attention deficit hyperactivity disorder), compared with the rest of the population.
• Sequencing ideas – when a person with dyslexia expresses a sequence of ideas, they may seem illogical.
• Autoimmune conditions – people with dyslexia are more likely to develop immunological problems, such as hay fever, asthma, eczema, and other allergies.

 

Causes of dyslexia

A child with dyslexia may have more difficulty than usual in reading, spelling, and concentrating.

Specialist doctors and researchers are not sure what causes a person to develop dyslexia.

Some evidence points to the possibility that the condition is inherited, as dyslexia often runs in families.

Genetic causes of dyslexia

A team at the Yale School of Medicine found that defects in a gene, known as DCDC2, were associated with problems in reading performance.

Parkinson’s disease is a movement disorder that progresses slowly. Some people will first notice a sense of weakness, difficulty walking, and stiff muscles. Others may notice a tremor of the head or hands. Parkinson’s is a progressive disorder and the symptoms gradually worsen. The general symptoms of Parkinson’s disease include:

• Slowness of voluntary movements, especially in the initiation of such movements as walking or rolling over in bed
• Decreased facial expression, monotonous speech, and decreased eye blinking
• A shuffling gait with poor arm swing and stooped posture
• Unsteady balance; difficulty rising from a sitting position
• Continuous “pill-rolling” motion of the thumb and forefinger
• Abnormal tone or stiffness in the trunk and extremities
• Swallowing problems in later stages
• Lightheadedness or fainting when standing (orthostatic hypotension).

Treatments:

What Is Pallidotomy?

It is thought that the part of the brain called the globus pallidus becomes overactive in Parkinson’s disease. This overactivity acts like a brake and slows or diminishes bodily movement. Pallidotomy surgery permanently destroys the overactive globus pallidus to lessen the symptoms of Parkinson’s disease. This treatment can eliminate rigidity and significantly reduce tremor, bradykinesia, and balance problems. Pallidotomy can also enhance the effect of medication in people with an advanced form of the disease.

What Is Thalamotomy?

It is thought that the abnormal brain activity that causes tremor is processed through the thalamus. Thalamotomy destroys part of the thalamus to block the abnormal brain activity from reaching the muscles and causing tremor. Because thalamotomy is used only to control tremors, it is not generally recommended as a treatment for Parkinson’s disease.

What causes ankle disorders?

What are the symptoms of ankle disorders?

Endometriosis is a medical condition that occurs when the lining of the uterus, called the endometrium, grows in other places, such as the fallopian tubes, ovaries or along the pelvis. When that lining breaks down, like the regular lining in the uterus that produces the menstruation, it has nowhere to go. This causes cysts, heavy periods, severe cramps and even infertility.

The endometrial tissue may also grow in the vagina, cervix, bowel or bladder, and in rare cases it may spread to other parts of the body, such as the lungs.

What is an atrial septal defect?

An atrial septal defect or ASD is an opening between the upper two chambers of the heart, known as the right atrium and the left atrium. A congenital heart defect, an ASD permits mixing of deoxygenated blood returning to the heart from the body (right atrium) and freshly oxygenated blood coming from the lungs (left atrium). The degree of mixing is largely related to the size of the defect and the relative pressures in each atrium. Early in life, blood from the left atrium preferentially moves into the right atrium, causing excessive blood to flow through the lungs. If this flow, otherwise known as “shunting” is significant enough, resistance to flow develops in the lung resulting in a gradual reversal of shunting of deoxygenated blood from the right atrium into the left atrium and subsequently through the body. This latter condition can lead to a condition called “cyanosis” whereby inadequately oxygenated blood is delivered to the body causing early fatigue and congestive heart failure.

Atrial Septal Defect

How is an atrial septal defect treated?

Small atrial septal defects can often be followed conservatively without surgery, due to minimal shunting. Larger ASDs should be closed to prevent the late irreversible consequences of excessive left-to-right shunting. ASDs can be closed surgically by simply sewing them closed or, in the case of larger ASDs, placing a patch of the patient’s own tissue or synthetic material (e.g., Dacron) over it.

How is an atrial septal defect repaired?

ASD repairs require the use of cardiopulmonary bypass, otherwise known as “the heart-lung machine.” This permits the surgeon to safely open the right atrium and access the ASD in a relatively bloodless field. In some cases, the heart is also stopped for 1 to 2 hours to facilitate the repair. Repairs range from relatively simple operations to more complex procedures depending on the location, size, and characteristics of the ASD. The total duration of the operation ranges from 2 to 3 hours.

What are minimally invasive approaches to an atrial septal defect?

The most common surgical approach requires the surgeon to saw open the breastbone and spread the edges apart to gain direct access to the heart. Although this approach provides excellent access to the heart, the resulting wound requires several months to heal completely, an extended recovery period with substantial activity restrictions, and can be subject to serious complications including infection, breakdown, and even death.

Mini-ASD Repair

Minimally Invasive Approach to ASD Closure

Currently at The Johns Hopkins Hospital, the most commonly employed minimally invasive approach to ASDs is a “mini-thoracotomy” which consists of a 3 inch incision made through the right side of the chest between the ribs. Heart-lung bypass is instituted with small tubes placed in the main artery and vein of the right leg through a 1 to 2 inch incision placed in the right groin crease. The heart is then stopped and the right atrium is opened to expose the ASD. At this point, specialized hand-held “chopstick” like instruments are inserted through this small incision by the surgeon to repair the defect. After the defect is repaired, the heart is then closed and restarted. Finally, heart-lung bypass is discontinued and the incisions are closed.

Systemic sclerosis (SSc) is a multisystem autoimmune disease in which there is increased fibroblast activity resulting in abnormal growth of connective tissue. This causes vascular damage and fibrosis. Fibrosis occurs in skin, the gastrointestinal (GI) tract and other internal organs.

The name scleroderma is derived from the Greek for ‘hard skin’ and emphasises the dermatological component of the disease. It was described by Hippocrates. There is a localised form of scleroderma, also known as morphoea

General features

• Fatigue.
• Weight loss.

Skin features

• Signs in the hand:
  • Swelling (non-pitting oedema) of fingers and toes – a common early sign; digits may look sausage-like; hand movement may be limited.
  • Skin becomes hard and thickened – this may limit joint movement or cause joint contractures; in the fingers, this is known as sclerodactyly.
  • Swelling and sclerosis reduce hand movements, so patients may be unable to make a fist, or to place the palmar surfaces together – the ‘prayer sign’.
  • Fingertips may have pitting, ulcers or loss of bulk from finger pads.
  • Raynaud’s phenomenon. This is the most common symptom and is present at some point in 90% of cases. Raynaud’s phenomenon with puffy fingers is thought to be a cardinal sign of likely SSc.
• Calcinosis – nodules or lumps of chalky material which may break through the skin.
• Face and mouth:
  • Tightening of facial skin.
  • Tight lips (microstomia) – can make dental hygiene difficult.
• Telangiectasia.
• ‘Salt and pepper’ appearance of skin, due to areas of hypopigmentation and hyperpigmentation.
• Dry or itchy skin; reduced hair over affected skin areas.

Musculoskeletal features

• Joint pain and swelling.
• Myalgia (due to inflammatory myopathy).
• Restriction of joint movement, contractures and muscle atrophy due to skin sclerosis.
• Tendon friction rubs – palpable/audible over the flexor/extensor tendons of the hands, knees and ankles.

GI features

• Heartburn and reflux oesophagitis.
• Oesophageal scarring and dysphagia.
• Delayed gastric emptying – eg, fullness after meals.
• Reduced small bowel motility – can cause bacterial overgrowth, with bloating, malabsorption, diarrhoea and malnutrition.
• Constipation due to reduced colonic motility.

Pulmonary features

• Pulmonary fibrosis (interstitial lung disease):
  • Occurs in as many as 75% of scleroderma patients, but only a few develop end-stage disease.
  • Causes restrictive lung disease.
  • Symptoms and signs: exertional dyspnoea, cough, coarse basal crackles.
• Pulmonary arterial hypertension (PAH):
  • Occurs in about 10-15% of patients with scleroderma.
  • A leading cause of death in SSc. The presence of PAH drastically reduces survival rate.
  • Symptoms and signs: exertional dyspnoea, syncope, right ventricular strain features.
  • Recent research has attempted to define predictive screening tools. These include monitoring lung function, ECG, urate levels, and N-terminal prohormone of brain natriuretic peptide (NT-proBNP); and by taking into account anti-centromere antibody (ACA) presence and history or presence of telangiectasia.

Management of GI symptoms

For upper GI symptoms:

• Maintain upright posture after meals; raise the head of the bed; limit alcohol.
• Proton pump inhibitors.
• May also need H2-receptor antagonists and pro-motility agents (metoclopramide or domperidone).
• Dilatation of oesophageal strictures if required.

For intestinal bacterial overgrowth and malabsorption:

• Cyclical antibiotics.
• Nutritional advice and nutritional supplements; rarely, parenteral nutrition is required.

For constipation:

• Dietary fibre and good fluid intake.
• Softening laxatives (such as lactulose) and/or soluble fibre (such as ispaghula).

Management of pulmonary disease

Pulmonary fibrosis (interstitial lung disease)

• Benefits of cyclophosphamide seem clear, but must be weighed against side-effects.
• Supportive treatment: prompt treatment of chest infections – oxygen if needed.

Pulmonary arterial hypertension (PAH)

• Drug treatment of PAH has improved recently and includes:
  • Endothelin receptor antagonists – eg, bosentan or sitaxsentan.
  • Vasodilators – eg, sildenafil.
  • Prostaglandin derivatives – eg, iloprost (nebulised or intravenous) or epoprostenol (infusion).
• Supportive treatment – eg, oxygen.

Complications

GI complications

See also specific GI sections under ‘Clinical features’ and ‘Management’ headings.

• Malnutrition due to swallowing problems and other digestive issues.
• ‘Watermelon stomach’ (gastric antral vascular ectasia):
  • May cause anaemia and GI bleeding.
  • May need endoscopic laser coagulation to prevent bleeding.
• Obstruction and pseudo-obstruction:
  • Can occur due to reduced motility and bacterial overgrowth.
  • Can be complicated by perforation and peritonitis.
  • Pseudo-obstruction is treated initially by bowel rest and antibiotics.
  • Laparotomy may be needed.
• Anorectal dysfunction:
  • In some cases, the rectum and anus are involved, causing faecal incontinence.
  • This may require surgery.

Scleroderma renal crisis

• A serious complication with features of accelerated hypertension.
• Can lead to renal failure if not treated promptly.
• Occurs in 5-10% of patients with scleroderma and is more common in those with diffuse or rapidly progressive disease.
• Presentation:
  • Usually presents as accelerated hypertension with oliguria, headache, fatigue, oedema, rapidly rising serum creatinine levels, proteinuria and microscopic haematuria.
  • Scleroderma renal crises can occur with apparently normal blood pressure, but the blood pressure is higher than baseline values – hence the importance of regular blood pressure monitoring.
• Treatment is with angiotensin-converting enzyme (ACE) inhibitors, plus dialysis if necessary.
• Testing patients with scleroderma for anti-RNA polymerase III antibodies may help identify at-risk patients.

Pulmonary complications

• Aspiration pneumonia from severe reflux.
• Respiratory muscle weakness if there is severe myositis or extensive skin disease involving the chest.
• Pneumothorax

Cardiac complications

• Many different cardiac abnormalities can be associated with SSc. These include:
  • Microvascular coronary artery disease (with resultant myocardial ischemia).
  • Myocardial fibrosis.
  • Left ventricular (LV) systolic dysfunction, LV diastolic dysfunction.
  • Pericarditis or pericardial effusion; these may cause cardiac impairment or congestive cardiac failure.
  • Arrhythmias and conduction defects (including bradyarrhythmias and tachyarrhythmias).
• The wide variety of abnormalities makes it difficult to assess prevalence. It is likely that the subclinical cardiac involvement rates are very high.
• Treatment is according to the clinical features.

Other complications

• Erectile dysfunction.
• Depression.
• Osteoporosis – due to reduced blood flow.
• Hypothyroidism may be associated.

Treatments:

Management: general

There is no cure for SSc, and management consists of controlling symptoms and preventing complications.

Monitoring

Regular monitoring and reviews are aimed at early detection and treatment of complications. Monitoring includes:

• Regular review of symptoms.
• Blood pressure monitoring.
• Renal function monitoring.
• Lung function tests and chest CT scan.
• ECG and echocardiography.

Non-drug treatments

• Patient involvement and education:
  • ‘Expert patient’ programmes and the Scleroderma Society.
  • Awareness of urgent problems such as renal crisis or intestinal obstruction symptoms.
• Physiotherapy to promote joint mobility and muscle strength.
• Home exercises to maintain range of motion (such as gentle mouth, face and hand stretches).
• Avoid tobacco and maintain healthy weight.
• Nutritional advice, and supplements if needed.
• For Raynaud’s phenomenon:
  • Prevention – avoid cold and trauma; use warm clothing or heated clothing.
  • For an attack – warm the body, hands and feet gently (the skin may be numb and unable to feel if the heat source is too hot); use gentle arm movements or gentle massage to help restore circulation.
• Occupational therapists – for adaptations to assist in daily living.
• Camouflage products – for cosmetic help with skin changes.

What is Idiopathic Thrombocytopenic Purpura (ITP)?

Idiopathic thrombocytopenic purpura (ITP) is a platelet disorder that occurs in people who have an abnormally low number of platelets in the blood. Platelets are essential in forming blood clots, which consist of a mass of fibers and blood cells. Platelets travel to a damaged or cut area of the body and stick together to form a clot. Having fewer platelets can result in easy bruising, bleeding gums and internal bleeding.

Idiopathic means the cause is unknown.
Thrombocytopenia means a decreased number of platelets in the blood.
Purpura refers to the purple discoloring of the skin, as with a bruise.

Acute thrombocytopenic purpura is most commonly seen in young children (2 to 6 years old). The symptoms may follow a viral illness, such as chicken pox. Acute ITP usually has a very sudden onset, and the symptoms usually disappear in less than six months (often within a few weeks). The disorder usually does not recur. Acute ITP is the most common form of the disorder.
Chronic thrombocytopenic purpura can happen at any age, and the symptoms can last a minimum of six months or several years. It is more common in adults than in children, but it does affect adolescents. Two to three times more females have ITP than males. Chronic ITP can recur often and requires continual follow-up care with a hematologist.
What are the causes of ITP?

In most cases, the cause of ITP is unknown. It is not contagious, meaning a child cannot “catch it” from playing with another child with ITP. It also is important to know that nothing the parents or the child did caused the disorder.

Often, the child may have had a virus or viral infection approximately three weeks before developing ITP. It is believed that the body’s immune system, when making antibodies to fight against a virus, “accidentally” also made an antibody that can stick to the platelet cells. The body recognizes any cells with antibodies as foreign cells and destroys them. Doctors think that in people who have ITP, platelets are being destroyed because they have antibodies. That is why ITP is also referred to as immune thrombocytopenic purpura.

Although there has been research looking at whether certain medications can cause ITP, no direct link has been made with any specific medication that may cause ITP.

What are the symptoms of ITP?

A normal platelet count is 150,000 to 450,000. With ITP, the platelet count is less than 100,000. By the time significant bleeding occurs, the child may have a platelet count of less than 10,000. The lower the platelet count, the greater the risk of bleeding.

Because platelets help stop bleeding, the symptoms of ITP are related to increased bleeding. However, each child may experience symptoms differently. Symptoms can include:

1. Purpura, which is the purple color of the skin after blood has “leaked” under it.
2. A bruise is blood under the skin.
3. Children with ITP can have large bruises from no known trauma. Bruises can appear at the joints of elbows Petechia, which are tiny red dots under the skin caused by very small bleeds.
4. Nosebleeds.
5. Bleeding in the mouth and/or in and around the gums.
6. Blood in the vomit, urine or stool.
7. Bleeding in the head, which is the most dangerous symptom of ITP.

Any head trauma that occurs when there are not enough platelets to stop the bleeding can be life-threatening.
The symptoms of ITP can resemble other blood disorders or medical problems. Always consult your child’s physician for a diagnosis.

How is ITP diagnosed?

In addition to a complete medical history and physical examination, diagnostic procedures for ITP can include:

Complete blood count (CBC), which is a measurement of size, number, and maturity of different blood cells in a specific volume of blood.
Additional blood and urine tests to measure bleeding time and detect possible infections.
Careful review of the child’s medications.
A bone marrow aspiration, which involves taking a small amount of bone marrow fluid, to look at the production of platelets and to rule out that any abnormal cells the marrow may be producing could lower platelet counts.
Treatment

A child’s specific treatment plan, including the frequency of visits, the length of treatment, side effects and long-term effects are determined by the:

Child’s age, overall health, and medical history
Extent of the disease
Child’s tolerance for specific medications, procedures, or therapies
Expectations for the course of the disease
The patient and family’s opinion or preference
Not all children with ITP require treatment. Close monitoring of a child’s platelets and prevention of serious bleeding complications may be the course of action chosen until the body is able to correct the disorder on its own.

When treatment is necessary, the two most common forms of treatment are:

Steroids, which can help prevent bleeding by decreasing the rate of platelet destruction. Steroids, if effective, will increase platelet counts within two to three weeks.
Intravenous gamma globulin (IVGG), a protein that contains many antibodies and also slows the destruction of platelets. It works more quickly than steroids (within 24 to 48 hours).
Other treatments for ITP can include:

Immune globulin, which is a medication that temporarily stops the spleen from destroying platelets. A child must be Rh positive and have a spleen for this medication to be effective.
Medication changes, because when a medication is the suspected cause, stopping the use of or changing the medication may be necessary.
Infection treatment to increase platelet counts, if infection is the cause for ITP.
Splenectomy to remove a child’s spleen if the spleen is the site of platelet destruction. This is considered more often in older children with chronic ITP.
Hormone therapy in teenage girls to stop their menstrual cycle when their platelets are low if excessive bleeding occurs.
Preventing bleeding

Parents of a child with ITP need to be aware of how to prevent injuries and bleeding. Consider the following:

Making the environment as safe as possible for young children by padding a crib, having the child wear a helmet, and providing protective clothing when platelet counts are low.
Restricting contact sports, riding bicycles, and rough play may be necessary.
Avoiding medications that contain aspirin, ibuprofen, naprosen, or other non-steroidal anti-inflammatory drugs because they may interfere with the body’s ability to control bleeding.
Discuss prevention measures with the child’s physician.