Humans are the most advanced in the order of creation, they have been gifted with the intellect which they have been using in different fields and helping mankind make his life easier and simpler. With the advance in technology medicine was not far behind. The so called “incurable diseases” started finding a cure, psychiatric patients were unshackled after the discovery of neurotransmitters responsible for psychiatric illnesses. Antibiotics and vaccines started curing and preventing serious infectious diseases.

However the neuro-degenerative diseases such as dementia, MNDs, spinal cord injury, parkinsonism, cerebral palsy etc., still are in search of that elusive drug. But with the discovery of stem cell therapy the hitherto “elusive drug” the magic remedy has been found which has come to salvage scores of patients suffering from these debilitating illnesses.

What is stem cell?
Stem cells can be called as the ‘mother cells’. They originate from the developing embryo and differentiate into different types of cells for example the heart muscle, the liver, brain, skin, bone etc. Etc., They are known as progenitors cells since they lead to creation of new cells.

When these stem cells are transplanted into the body they migrate to the injured areas in the body , get attached there and transform themselves into the tissue desired and replace the damaged one.
This is the theory behind the use of stem cells in most of the neuro-degenerative and autoimmune disorders.

Procedures:

Essentially there are two types of stem cell therapy:

• Autologous therapy where the patient is given stem cells derived from his own bone marrow, or adipose (fat) tissue.
• Allogenic therapy where the donor cells are used ( not the patient himself but some other persons cells are transplanted)

Keloids are raised overgrowths of scar tissue that occur at the site of a skin injury. They occur where trauma, surgery, blisters, vaccinations, acne or body piercing have injured the skin. Less commonly, keloids may form in places where the skin has not had a visible injury. Keloids differ from normal mature scars in composition and size. Some people are prone to keloid formation and may develop them in several places.

Keloids are more common in African-Americans. They are seen most commonly on the shoulders, upper back and chest, but they can occur anywhere. When a keloid is associated with a skin incision or injury, the keloid scar tissue continues to grow for a time after the original wound has closed, becoming larger and more visible until it reaches a final size. They generally occur between 10 and 30 years of age and affect both sexes equally, although they may be more common among young women with pierced ears. Keloids may form over the breastbone in people who have had open heart surgery.

Symptoms:

Keloids usually appear in areas of previous trauma but may extend beyond the injured area. They are shiny, smooth and rounded skin elevations that may be pink, purple, or brown. They can be doughy or firm and rubbery to the touch, and they often feel itchy, tender or uncomfortable. They may be unsightly. A large keloid in the skin over a joint may interfere with joint function.

Expected Duration:

Keloids may continue to grow slowly for weeks, months or years. They eventually stop growing but do not disappear on their own. Once a keloid develops, it is permanent unless removed or treated successfully. It is common for keloids that have been removed or treated to return.

Prevention

People who are prone to keloids should avoid cosmetic surgery. When surgery is necessary in such people, doctors can take special precautions to minimize the formation of keloids at the site of the incision. Examples of techniques that might be used to minimize keloid formation include covering the healing wound with hypoallergenic paper tape for several weeks after surgery, covering the wound with small sheets made of a silicone gel after the surgery, or using corticosteroid injections or radiation treatments at the site of the surgical wound at the beginning of the healing period.

Treatment

There is no single treatment for keloids, and most treatments do not give completely satisfying results. Two or more treatments may be combined. If you decide to pursue treatment for a keloid scar, you will have the best results if you start treatment soon after the keloid appears. Available treatments include:

• Removal with conventional surgery — This unreliable technique requires great care, and keloids that return after being removed may be larger than the original. Keloids return in more than 45% of people when they are removed surgically. Keloids are less likely to return if surgical removal is combined with other treatments.
• Dressings — Moist wound coverings made of silicone gel sheets have been shown in studies to sometimes reduce the size of keloids over time. This treatment is safe and painless.
• Corticosteroid injections — Injections with triamcinolone acetonide or another corticosteroid medicine typically are repeated at intervals of four to six weeks. This treatment can often reduce keloid size and irritation, but injections are uncomfortable.
• Compression — This involves using a bandage or tape to apply continuous pressure 24 hours a day for a period of six to 12 months. Such compression can cause a keloid to become smaller. For keloids that form at the site of an ear piercing, a clip known as a “Zimmer splint” usually reduces keloid size by at least 50% after one year of compression. Zimmer splints that resemble earrings are available.
• Cryosurgery — This freezing treatment with liquid nitrogen is repeated every 20 to 30 days. It can cause a side effect of lightening the skin color, which limits this treatment’s usefulness.
• Radiation therapy — This therapy is controversial because radiation increases the risk of cancer. Radiation treatments may reduce scar formation if they are used soon after a surgery, during the time a surgical wound is healing.
• Laser therapy — This is an alternative to conventional surgery for keloid removal. There is no good evidence that keloids are less likely to return after laser therapy than after regular surgery.
• Experimental treatments — One treatment showing promise is injecting keloid scars with medicines that were developed to treat autoimmune illnesses or cancers. Treatments with these medicines (various types of interferon and the chemotherapy agents 5-fluorouracil and bleomycin) will need to be evaluated further before they are appropriate for use outside of research studies.

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.