Genetic counselling

Posted on May 11, 2011 by Manbir & Gurpreet

Genetic counselling

The cells in our body, throughout their lives, duplicate themselves to create new tissue. The 23 pairs of chromosomes in a cell also double to 46. But sometimes the pattern of duplication is disturbed. Instead of merely duplicating a chromosome may triplicate or even break, causing various birth defects. These disorders can be passed to future generations.

Genetic counselling is a way to screening high risk populations for various diseases like families prone to cancers, thalassaemia and many genetically transferable diseases The geneticists assess the potential risk of passing on the disorder to future generations. This helps the parents to be to take informed decision about terminating a pregnancy and avoiding the trauma of having a disabled child.

Many couples are faced with difficult situations regarding the possibility of a new born being a physically disabled child or the child may be suffering from a very troublesome illness like Thalassaemia. Some couples have a child in their family already suffering from thalassaemia and the prospects of having another child with same illness are devastating. A thalassaemic child may have to undergo repeated blood transfusions. Some may need it fortnightly.

Genetics has come a long way to solve many of such problems. Tests can be conducted to find out if the unborn child carries a thalassaemia gene. Procedures have been developed by which artificially fertilised healthy embryo can be implanted in the uterus of elderly women anxious to have a healthy child. There are also methods by which genetic mapping can be done of a person to find out if he or she is carrying any faulty chromosome.
Some of the methods employed are

Polymerase Chain Reaction (PCR): Is a procedure that can reveal whether an unborn child carries a thalassaemia gene. This procedure is done mainly to detect minute abnormalities of the genes that cause diseases like thalassaemia, cystic fibrosis, haemophilia and muscular dystrophy.

Pre-implantation Genetic diagnosis (PGD): This procedure can create and select an artificially fertilised healthy embryo and implant it in the uterus, and thus ensuring that the high risk couple has a normal baby.

Karyotyping : is done to map the genetic makeup of a person to detect any faulty sex chromosome. Karyotyping is very helpful in showing up chromosomal abnormalities that cause severe physical disabilities like Tisomys – Trisomy 21 causes Down’s Syndrome, Trisomy 18 causes limb deformities and microcephaly, Trisomy 13 gives a cleft palate.

Genetic disorders

Gums Diseases

Posted on May 11, 2011 by Manbir & Gurpreet

Gums Diseases

Health of gums is a very important aspect of general health. Diseases of gums do have profound effect on the general health of an individual.

Periodontal disease is better known as gum disease. In the next millennium periodontal disease is going to be the most common dental problem. 90 % of the adults above 40 are affected by one or the other form of periodontal disease.
Periodontal disease affects the gums and other supporting structures of the teeth.
Gingivitis, the early stage of gum disease, starts with plaque which is a soft, sticky and colourless film of bacteria that forms on the teeth. If not removed from time to time the bacterial plaque can release toxins and enzyme that irritate and inflame the gum tissues. Gums then become swollen, red, sensitive and can bleed painfully.
In its more advanced stage the disease affects the bone and other supportive structures and is known as Periodontitis. This happens when the plaque responsible for the gingivitis is not removed and hardens around the gums line and forms Tartar. The Tartar causes inflammation which causes space between the gum and the teeth. It starts eating out the underlying bone and ultimately the tooth loosens its hold and fall out itself.
Red, swollen tender gums which bleed on brushing indicate Gingivitis.

Smokers are 3.3 times more likely to suffer advanced Periodontitis than the non-smokers.
Pregnant females with periodontal diseases are more likely to deliver premature low birth weight infants than those without it.
Many recent studies have suggested connection between periodontal diseases and cardiovascular diseases.

Signs of Periodontitis:

Pus between gums and teeth.
Loose teeth.
Bad breath.

For healthy gums:

Brush twice a day.
Floss after meals.
Gargle with mouthwashes containing chlorhexidine.

Researchers are developing a genetically-altered bacteria to squirt in people’s mouths to combat tooth decay !!

Eczema

Posted on May 10, 2011 by Manbir & Gurpreet

Eczema

There are two types of Eczema:

Exogenous or Contact Eczema
Endogenous or Constitutional Eczema

CONTACT ECZEMA

IRRITANT CONTACT ECZEMA
Detrgents, alkalis, acids, solvents and abrasive dusts are common causes of irritant contact eczema. Majority of industrial irritants causing contact dermatitis come under this category. Those with fair dry skin and with a family history of allergic diseases such as asthma, hay fever or eczema are more vulnerable to irritant contact dermatitis. Napkin eczema in babies comes under this type of eczema.
ALLERGIC CONTACT ECZEM
It is due to delayed hypersensitivity reaction to a contact with an antigen. Previous exposure to antigen is required for sensitization to occur and the reaction is specific to the antigen or closely related chemical.

COMMON ALLERGENS :

Nickel: Jewellery, jeans studs, bra clips.
Dicromate: Cement, leather, matches.
Rubber: Clothing, tyres, shoes.
Colophony: Sticking Plaster.
Paraphenylenediamine: Hair dye, Clothing.
Balsum of Peru: Perfumes, Citrus fruits.
Parabens: Preservatives in cosmetics and creams.
Wool Alcohols: Lanolin, Cosmetics, Creams.
Epoxy Resins: Resin Adhesives.
Topical Applications: Neomycin, Benzocain

	Diaper Dermititis Moist, bright red lesoins over the diaper area sparing the inguinal flexures. Setellite lesions may be seen. Treatment : Area to be kept dry. Topical antifungal – steroids creams or lotions.
	Hand Eczema Excessive exposure of hands to soaps, chemicals etc. causing redness, scaling and fissuring. Treatment : Avoidance of causative factors, Topical steroids-antibiotic preparations.
	Contact Dermatits Erythematous, oozing, crusted lesions occurring at the site of contact with metals (earrings, wrist watches, necklaces etc.) Treatment : Avoid contact with the allergens. Topical steroids creams or lotions.
	Foot Wear Dermatitis Erythema and oozing, or lichenification seen on the dorsal aspects of feet. Depigmentation may also occur. Treatment : Topical steroids, change of footwear.
	PhotoContact Dermatitis Itchy, erythematous, scaly and or fluid filled lesions seen on the exposed areas of the face, neck, back of the hands etc. Treatment : Avoid photosensitizing agents, Use steroid topically and sun screening agents.
	Microbic Eczema Sensitizaton to causative organism leads to oozing, crusted eczematous lesions around the primary lesion. Treatment : Local cool compress, topical steroid-antibiotic cream,systemic antibiotic.
	Stasis Eczema Pruritic, weeping and eroded lesions seen on the lower leg. Varicose veins usually present. Treatment : Leg elevation , wet compresses, systemic antibiotics and topical steroids.
	Xerotic Eczema (Dry Skin) Skin is dry and flaky especially over the arms and legs with generalised pruritus. Treatment : Infrequent bathing; avoid soaps; Urea cream, vaseline or cold cream.

Dengue Fever

Posted on May 10, 2011 by Manbir & Gurpreet

Dengue Fever

Dengue is a viral infection that can lead to fever (Dengue fever syndrome) and can sometimes result in severe bleeding (Dengue Haemorrhagic Fever) and shock (Dengue Shock Syndrome).

The Aedes mosquito spreads the dengue virus. This mosquito bites humans during daytime and breeds in relatively clean water stored for drinking or washing purposes and in rainwater that collects in various containers (e.g. tyres, bottles, tanks, shallow wells, plastic bottles.)

People of all ages and both sexes who are exposed to mosquito bites can get this disease. Children usually have a milder disease than adults.

There are basically four ways in which a patient – with Dengue presents himself:

1. Mild uncharacteristic fever.

2. “Break-bone” fever characterized by chills, high fever, severe headache, rash spreading from trunk to extremities, muscle and joint pains preventing all movements lasting for nearly 5 days.

3. DHF or Dengue Hemorrhagic Fever abrupt onset, high continuous fever lasting for 2-7 days with bleeding patches under skin, nose bleeding, gum bleeding, blood vomit, black tarry stool, capillary leakage ( ascites and pleural effusion), low platelet count and around 20% rise in haemotocrit.

4. DSS or Dengue Shock Syndrome shows all the signs and symptoms of DHF with cold clammy skin, weak and rapid pulse, hypotension and narrow pulse pressure.

Treatment

There is no specific drug or vaccine available that acts against the Dengue virus. Management follows general principles: –

Bed-rest under a mosquito net.
Sponge for fever.
Paracetamol for pain and fever.

Avoid Asprin and other NSAIDs that can reduce platelet count and increase bleeding

Cheek vital signs, haematocrit, urine output for signs of dehydration and electrolyte imbalance. Rapid intravenous replacement of fluids and electrolytes to sustain patient till recovery occurs. Plasma or plasma colloid preparations should be given if the haematocrit remains elevated. Care should be taken to avoid over hydration and pulmonary oedema (should this occur, diuretics may be used) Benzodiazepines (eg. diazepam) may be given to calm patients. Platelets concentrate needs to be given in those with low platelet count.

The disease cannot be spread by direct contact. It spreads only via Aedes mosquito bite. The transmission route is ‘Man-Mosquito- Man’.

This spread of the disease can be achieved by protecting individuals from mosquito bite (sleeping under a mosquito net, using insect repellants) and by controlling the Aedes mosquito population in the area.

The anti mosquito measures include:

Reduce Aedes mosquito breeding ground by getting rid of water holding containers such as discarded tins, empty pots, broken bottles etc.
Destroy larvae by adding oil to water collected in small ponds etc.
Kill adult mosquitoes by spraying insecticides.

Difference between Dengue Fever complicated by bleeding from DHF

Dengue Fever with Bleeding

Bleeding from pre-existing lesion like peptic ulcer.
Ascites and Pleural Effusion not seen.
Liver usually not enlarged.
Haematocrit falls.
Leucopaenia (fall of WBC)
Mild fall in Platelets count (rarely less than 1,00,000/cumm.

DHF – Dengue Hemorrhagic Fever

Bleeding under skin and from all mucosal surfaces.
Ascites and pleural effusion seen.
Liver enlargement seen in 1-2 days.
Haematocrit rises by 20% or more.
Leucocytosis (rise in WBC count)
Severe fall in Platelets count (usually less than 1,00,000/ cumm.)

Herpes Zoster

Posted on May 10, 2011 by Manbir & Gurpreet

Herpes Zoster

Herpes Zoster is caused by Varicella-zoster virus.
Varicella-zoster virus causes two distinct clinical entities: varicella, or chickenpox, and herpes zoster, or shingles. Herpes Zoster presents as a type of skin rash accompanied by severe nerve pain.

Herpes zoster disease, is the consequence of reactivation of latent VZV ( Varicella – zoster virus ) from the dorsal root ganglia. Herpes zoster occurs at all ages, but its incidence is highest (5 to 10 cases per 1000 persons) among individuals in the sixth through the eighth decades of life. It has been suggested that approximately 2 percent of patients with herpes zoster will develop a second episode of infection.

This disease is characterized by a one sided vesicular eruption on the line of a nerve and is associated with severe pain. The erythematous maculopapular rash changes rapidly into vesicular lesions. The onset of the disease starts usually with severe pain on the line of the nerve that is involved with the disease process. The eruption may remain few in number or may continue to form for 3 to 5 days. The total duration of disease is generally between 7 and 10 days; however, it may take as long as 2 to 4 weeks for the skin to return to normal.

The disease may appear practically any place in the body. It may appear on the face (very common), tongue, mouth, and eye. It’s commonly seen on the one side of the chest.

If vesicles appear in the ear canal, patients lose their sense of taste in the anterior two-thirds of the tongue while developing one sided facial palsy.

Post Herpetic Neuralgia is the most common complication of this disease. It’s seen most in the elderly patients or in immuno-compromised patients. This is a very troublesome pain persisting after the resolution of the disease process.

Treatment
Acyclovir, 800 mg per day for 7 to 10 days. Famciclovir, Valacyclovir are also used for herpes zoster. Other supportive measures may also be needed to manage pain and to prevent secondary infection of the eruptions.

Involvement of the eye needs timely care by ophthalmologist. Eye involvement can be troublesome when cornea is involved.