Clinical Manifestation of Polio

The following phases of the virus infection:
 A. Acute Stage
 That phase since the clinical symptoms up to 2 weeks. Characterized by increased body temperature. Sometimes accompanied by headache and vomiting. Paralysis caused by damage to the motor neuron cells in the spinal cord (spinal cord) due to a virus invasion. This paralysis is asymmetrical so it tends to cause a disturbance in body shape (deformity) that persist or even become more severe. Paralysis that occurs mostly in the legs (78.6%), whereas 41.4% in arm. Gradual paralysis lasted until about 2 months after the initial illness.

B. Subacute Stage
 That phase of 2 weeks to 2 months. Characterized by the disappearance of fever within 24 hours. Sometimes accompanied by muscle stiffness and mild muscle aches. Paralysis of limbs paralyzed and usually one side only.

 C. Stadium Konvalescent
Long the phase at 2 months to 2 years. Characterized by the recovery of a previously weak muscle strength. Approximately 50-70 percent of muscle function to recover within 6-9 months after the acute phase. Furthermore, after 2 years is not expected to occur again in muscle strength recovery.

 D. Chronic Stadium
 That is more than 2 years. Muscle paralysis that occurs is permanent.

       Clinical picture which occur very varied ranging from the lightest to the heaviest, among other things: 
a. Infection without symptoms. 
 Incidence of asymptomatic infection, is difficult to know, but it is usually quite high, especially in areas that are poor cleanliness standards. At an endemic polio are estimated at 9-95% of the population and lead to immunity against polio. Newborns protected at first because of maternal antibodies which then would disappear after the age of 6 months. The disease is only known by a virus found in feces or elevated antibody titers.
 b. Abortive infection It was estimated 4-8% of the population in a region where the incidence is quite high. Not present the typical symptoms of poliomyelitis. Begins suddenly and lasts 1-3 days with symptoms of minor illness such as fever may reach 39.5 ° C, malaise, headache, sore throat, anorexia, vomiting, muscle pain and abdominal pain and sometimes diarrhea. The disease is difficult to distinguish from other viral diseases, only to be expected in case of polio epidemic in the region. Definitive diagnosis only by finding the virus in tissue culture. Differential diagnosis is influenza or other throat infections.

 Non-paralytic poliomyelitis        
This disease occurs in about 1% of all infections. Clinical symptoms similar to abortive infection that lasts 1-2 days. After the temperature became normal, but then increases again (dromarychart), accompanied by symptoms of headache, nausea and vomiting is more severe, and found the back muscle stiffness in the neck, back and legs. Kernig's sign and positive brudzinsky. Another sign is when the child tried to sit down with sleeping position, then he would bend his knees up, while two support arms back on the bed. Head drop is established when the patient's body by pulling on both armpits, will cause the head fall back. Tendon reflexes are usually normal. When the tendon reflex changes, it is likely to occur paralytic poliomyelitis. The differential diagnosis of serous meningitis and meningismus are.

Paralytic poliomyelitis       
Clinical picture similar to paralytic poliomyelitis is accompanied by non weaknesses in one or more of the collection or the cranial skeletal muscles. These symptoms may disappear for several days and then comes back accompanied by paralysis (paralytic) is a flaccid paralysis' which is usually unilateral and symmetrical that is most often affected are the limbs. This may be accompanied by paralysis of the urinary vesicles, intestinal atony and sometimes paralytic ileus. In case of severe respiratory muscle paralysis can occur.

  Clinically can be divided into four forms according to the height of lesions in the central nervous system are:

 a. Form of spinal muscular neck with symptoms of weakness, stomach, back, diaphragm, there is a limb where the majority of the lower limb. Common is the large muscles, quadriceps femoral in the leg, the arm of the deltoid. The nature of this paralysis is asymmetrical. Tendon reflexes decreases until it disappears and no disturbance of sensibility.

b. Bulbospinal form of a mixture of symptoms found between spinal and bulbar form. 

c. Bulbar form characterized by motor weakness of one or more cranial nerves with or without disruption of vital centers such as breathing, circulation and body temperature. If the weakness involves cranial nerves IX, X and XII, it will cause paralysis of the pharynx, tongue and fangs with the consequences of airway obstruction occurs.

d. Encephalytic form is characterized by a decreased consciousness, tremors and sometimes convulsions





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1. Types of Polio
2. How to prevent Polio
3. How Polio Transmitted
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Therapy of Polio

 

      The management of poliomyelitis Treatment in patients with polio is not specific. Treatment aims to relieve symptoms and supportive treatment to improve the stamina of the patient. Physiotherapy services need to be given to minimize the paralysis and make sure to avoid muscle atrophy. Orthopedic treatments available for those who experience persistent paralysis. The most effective disease control is prevention through vaccination and surveillance of AI P. Do rehabilitation patients to rest and put to bed, allowing the affected limb to be really comfortable. If exposed to the respiratory organs, respiratory physical therapy may be needed. If paralysis or weakness since the respiratory intensive care is required. There is no effective antiviral drugs for poliovirus, so the main therapy is to reduce complaints (supportive). Analgetic given for headache complaints. The use of ventilators in patients with respiratory muscle impairment, and an expected long-standing use of the ventilator will be performed tracheotomy. Rehabilitation therapy in patients with muscle paralysis and the wounds caused by pressure (decubitus). Giving a laxative is needed because of the lack of mobilization so that digestion will be impaired and also the provision of software and high-fiber diit. Surgical therapy in the form of merging the hip joint is required in patients with side effects of the shape or thinning disorder of the hip joint.

How to Prevent Polio

Prevention Efforts
 There are some preventive measures this spread of polio, which are:

1. Polio eradication
 World Health Assembly in 1988 which was followed by most countries around the world made an agreement to conduct Polio Eradication (ERAPO) in 2000, meaning that a polio-free world in 2000. ERAPO the first program is to do with the overall immunization coverage.

Polio immunization should be given in accordance with WHO recommendations are given at birth, 4 times at intervals of 6-8 weeks. Then repeated at the age of 1.5 years; 5tahun, and the age of 15 years. Repeated immunization efforts this would not have a negative impact. In fact it is the only program in an efficient and effective in the prevention of polio.

2. Survailance acute flaccid paralysis

 Is looking for people with suspected paralytic paralyzed at age below 15 years. They should be checked to ascertain whether the stool because of polio or not. Suspected cases of polio infection should be thoroughly checked in the laboratory because it could have happened not because of paralysis of polio.

3. Mopping Up

  This means That measures the mass vaccination of children aged under 5 years in the discovery of polio without polio Immunization previous status. It seems that in the era of globalization where the mobility of people Between countries is very high and rapid, Difficulties Arise in controlling the spread of this virus. In Addition to the prevention of polio vaccination course should be accompanied by an increase of in environmental sanitation and personal sanitation. The use of family latrines, clean water meets health requirements That, and maintain food hygiene is an effort to Prevent and Reduced the risk of transmission of polio virus That is alarming again. Being one of the world's concern That the disability Caused by polio persist can not be cured. Healing can do very little alias no cure for polio. However, the actual parents should not panic if the baby and his son had obtained a complete polio vaccination.

Polio vaccine
There are two kinds of polio vaccine, oral polio vaccine were found Albert Sabin and the polio vaccine developed by Jonas Salk is disabled, which is as follows
.
a. Oral polio vaccine
→ Cast into the mouth. Contains live polio virus that had been weakened ..

Polio Oral Vaccine

b. Inactivated polio vaccine
→ administration by injection. Contains a killed polio virus. Virus polio (poliomyelitis) is highly contagious and incurable. This virus attacks the entire body (including muscles and nervous system) and can cause permanent muscle weakness and total paralysis in a matter of hours. Even sekitar10-15 percent of those affected eventually died of polio that attacked the respiratory muscles. Until now has not found a way of treatment of poliomyelitis. The most effective way of prevention is immunization.

Polio Injection Vaccine

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2. Clinical Manifestation of Polio
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How Polio Transmited

Poliomyelitis caused by polio virus. One in 200 infections develop into paralysis. A total of 5-10 percent of patients paralyzed, died when his breathing muscles become paralyzed. Mostly affects children under the age of three years (more than 50 percent of cases), but can also affect adults. Prevention by vaccination at regular intervals, ideally in childhood.

Viruses enter through the mouth and nose and then multiply in the throat and digestive tract or gut. Furthermore, absorbed and spread through the blood vessels and lymph vessels.

Direct transmission of the virus occurs in several ways, namely:

a. faecal-oral route (from feces to mouth)

 Through drink or food contaminated polio virus from stool of patients and into the mouth of healthy individuals.

b. Oral-oral (from mouth to mouth)

transmission through saliva splashes into the mouth of the patient that other healthy people. Actually, the high temperature conditions can quickly turn off the virus. Conversely, in a frozen state or a low temperature it can survive the virus for years.

Virus resistance in soil and water depends on temperature and humidity of other microbes. The virus can survive longer in the waste water and surface water, even up to miles and miles from the source of infection. Polio virus is highly resistant to alcohol and lisol, but sensitive to formaldehyde and chlorine solution. High temperatures quickly kill viruses, but in a frozen state can last for years. Virus resistance in soil and water depends on temperature and humidity of other microbes. The virus can survive for long in the waste water and surface water, even up to miles and miles from the source of infection. Although the infection is mainly due to environmental contamination by the polio virus from patients with infectious, the virus that lives in a limited environment. One of the intermediate host or organism that can be demonstrated to date is a human.





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Types of Polio

Polio

        Poliomyelitis, or polio, is a paralysis or paralytic disease caused by viruses. Carrier agent, the disease is a virus called poliovirus (PV), enters the body through the mouth, infecting the intestinal tract. The virus can enter the bloodstream and flows into the central nervous system causing muscle weakness and sometimes paralysis.

The word "polio" is derived from [Greek] or its more recent, from the "gray" and "spotting". Polio disease caused by infection with polio virus derived from the genus Enterovirus and the family Picorna viridae. The virus is transmitted through the feces (stool) or throat secretions of infected people. Polio virus entered through saliva causing infection.
This can happen easily if hands are contaminated or contaminated objects inserted into the mouth and throat and multiply in the gut. Proliferated for 4 to 35 days, then issued through the feces for several weeks later.

Polio

Types of Polio
 1. Non-polio paralysis
      Non-polio paralysis causes fever, vomiting, abdominal pain, lethargy, and sensitive. Muscle cramps occur in the neck and back, the muscles are soft to the touch.

2. Polio paralysis spinal
      Strain of poliovirus attacks the spinal cord, destroying the anterior horn cells which control movement of the trunk and limb muscles. Although this strain can cause permanent paralysis, less than one in 200 people will experience paralysis. Paralysis occurs most often found in the legs to the feet.
      After the polio virus attacks the intestines, the virus will be absorbed by the capillary blood vessels in the intestinal walls and transported throughout the body. Polio virus attacks the spinal cord and motor neurons - which control the physical movement. At this period, like-iflu symptoms appear. However, in patients who have no immunity or has not been vaccinated, the virus usually will attack all parts of the trunk spinal cord and brain stem. This infection affects the central nervous system - spreading along nerve fibers. Along with the proliferation of virus in the central nervous system, the virus destroys motor neurons. Motor neurons do not have the ability to regenerate and muscles associated with it will not react to commands from the central nervous system. Paralysis in the legs causes the legs to be weak - a condition called acute flaccid paralysis (AFP). Severe infection of the central nervous system can cause paralysis of the trunk and muscles of the thorax (chest) and abdomen (stomach), is called quadriplegia.

3. Bulbar polio
       Caused by the lack of natural immunity to develop part of the brain stem. The brain stem contains motor neurons that regulate breathing and cranial nerves, which send signals to various nerves that control eye movement; trigeminal nerve and facial nerve associated with the cheeks, tear glands, gums, and muscles of the face; auditory nerves that regulate hearing; glossofaringeal nerve that helps the process of swallowing and the various functions of the esophagus; movement of the tongue and taste, and the nerves that send signals to the heart, intestines, lungs, and additional nerve that regulates the movement of the neck. Without a ventilator, bulbar polio can cause death. Five to ten percent of patients suffering from bulbar polio will die when their breathing muscles, can not work. Death usually occurs after damage to the cranial nerves are on duty to send 'command breathed' into the lungs. Patients can also die because of damage to the swallowing function; victim can 'sink' in his own secretions unless carried out or were subjected to tracheostomy suction to suck up the fluid that is secreted before it goes into the lungs
         However, tracheostomy is also hard to do if the patient has been using the iron lung.  This tool helps the weak lungs by increasing and reducing the air pressure inside the tube. If the air pressure increased, the lung will deflate, if air pressure is reduced, the lungs will expand. Thus the air pumped out of the lungs. A much more severe infection in the brain can lead to coma and death. Bulbar polio death rate ranges from 25-75% depending on the age of the patient. Until now, those who survive this type of polio have to live with an iron lung or respirator. Bulbar and spinal polio often attacked simultaneously and is a subclass of polio paralysis. Polio paralysis is permanent. Patients who recover may have near-normal body functions.





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HENOCH-SCHÖNLEIN PURPURA

DEFINITION
       Is a clinical syndrome caused by systemic vasculitis of small blood vessels are characterized by specific lesions of nontrombositopenik purpura, arthritis or arthralgia, abdominal pain or gastrointestinal bleeding, and sometimes nephritis or haematuria. Another name of this disease is anaphylactoid purpura, allergic purpura and allergic vasculitis.

 

EPIDEMIOLOGY
         The disease is mainly found in children aged 2-15 years (school age children) with a peak at age 4-7 years. There is more on boys than girls (1.5: 1)

ETIOLOGY
        Until now the cause of this disease is unknown. Allegedly several factors play a role, among other genetic factors, upper respiratory tract infection, food, insect bites, exposure to cold, immunization (vaccine varicella, rubella, rubeolla, hepatitis A and B, paratyphoid A and B, typhoid, cholera) and antibiotics (ampisillin, erythromycin, quinine, penicillin, quinidin, quinine). Infection can be caused by bacteria (species of Haemophilus, Mycoplasma, Parainfluenzae, Legionella, Yersinia, Shigella and Salmonella) or viruses (adenovirus, varicella, parvovirus, Epstein-Barr virus). Vasculitis can also develop after therapy antireumatik, including the use of methotrexate and anti-TNF agent (Tumour Necrosis Factor). However, IgA clearly has an important role, characterized by increased concentrations of serum IgA, IgA immune complexes and deposit in blood vessel walls and renal mesangium. HSP is a disorder that is almost always associated with abnormalities in IgA1 than IgA2

PATHOPHYSIOLOGY
       From biopsies of lesions on the skin or kidneys, there are known deposits of immune complexes containing IgA. Note also the existence of alternative pathway complement activation. Deposits of immune complexes and complement activation resulting in activation of inflammatory mediators including vascular prostaglandins such as prostacyclin, causing inflammation in small blood vessels in the skin, kidneys, joints and abdomen and occurs in the skin purpura, nephritis, arthritis and gastrointestinal bleeding.


CLINICAL
          HSP usually appears with a rash triad of purpura on the lower extremities, abdominal pain or kidney disorders and arthritis. But the triad is not always there, so that often lead to incorrect diagnosis. Clinical symptoms early - the early form of eritomatosa macular rash on the skin of the lower limb which continues to be a symmetric palpable purpura without thrombocytopenia. The rash was initially limited to the skin but usually malleolus will then be extended to the dorsal surface of the legs, buttocks and outer sleeve. Within 12-24 hours macular purpuric lesions will turn into a dark red and has a diameter of 0.5 to 2 cm. Lesions may coalesce into larger plaques that resemble echimosis which can then be ulcerated.
           Purpura mainly found on the skin that are often exposed to pressure (pressure-bearing surfaces). This skin disorder is found at 100% of cases and represents 50% of complaints patients at the time of treatment. Skin disorders can also be found on the face and body. Abnormalities of the skin can be itchy. In the form that is not classical, the existing skin disorders can form vesicles to resemble erythema multiform. Acute disorders of the skin can last several weeks and disappear, but can also be recurrent. Scrotal Edema can also occur and the symptoms are similar to testicular torsion. Prodromal symptoms can include fever with a temperature of not more than 38 ° C, headache and anorexia.
         HSP usually appears with a rash triad of purpura on the lower extremities, abdominal pain or kidney disorders and arthritis. But the triad is not always there, so that often lead to incorrect diagnosis.

HENOCH-SCHÖNLEIN PURPURA

            Clinical symptoms early - the early form of eritomatosa macular rash on the skin of the lower limb which continues to be a symmetric palpable purpura without thrombocytopenia. The rash was initially limited to the skin but usually malleolus will then be extended to the dorsal surface of the legs, buttocks and outer sleeve. Within 12-24 hours macular purpuric lesions will turn into a dark red and has a diameter of 0.5 to 2 cm. Lesions may coalesce into larger plaques that resemble echimosis which can then be ulcerated.
             Purpura mainly found on the skin that are often exposed to pressure (pressure-bearing surfaces). This skin disorder is found at 100% represents 50% of cases and complaints of patients at the time of treatment. Skin disorders can also be found on the face and body. Abnormalities of the skin can be itchy. In the form that is not classical, the existing skin disorders can form vesicles to resemble erythema multiform. Acute disorders of the skin can last several weeks and disappear, but can also be recurrent. Scrotal Edema can also occur and the symptoms are similar to testicular torsion. Prodromal symptoms can include fever with a temperature of not more than 38 ° C, headache and anorexia.
        In children aged less than 2 years, the clinical picture is dominated oelh sinfulness scalp edema, periorbital, hands and feet. This picture is called AHEI (Acute Hemorrhagic Edema of Infancy).
         In addition to purpura, also found that symptoms of arthralgia and arthritis tend to be migrants and about the joints of the lower extremities such as knees and ankles, but can also on the wrist, elbow and finger joints in the hand. This disorder arises first (1-2 days) of skin disorders. Affected joints may become swollen, painful and sore when actuated, usually without effusion, redness or heat. Abnormalities teutama periartrikular and temporary, may also recurrent during active disease but does not cause permanent deformity.
        In this disease can be found in the form of abdominal discomfort abdominal pain or gastrointestinal bleeding. Abdominal complaints usually arise after the onset of disorders of the skin (1-4 weeks after onset). The organ most frequently involved are the duodenum and small intestine. Abdominal pain can be severe abdominal colic, location in periumbilikal and accompanied by nausea, vomiting, vomiting blood and even sometimes there is a bowel perforation and intussusception is more common than ileoileal ileokolonal. Intussusception or perforation caused by vasculitis that causes the intestinal wall edema and submucosal and intramural hemorrhage. Sometimes it can also occur with a perforated bowel infarction or not.
          Moreover, it can also be found renal abnormalities, including hematuria, proteinuria (<2g / d), nephrotic syndrome (proteinuria> 40mg/m2 / hour) or nephritis. Diseases of the kidney is also usually appear 1 month after the onset of skin rash. The existence of a persistent skin disorder until 2-3 months, usually associated with nephropathy or severe kidney disease. Increased risk of nephritis at the age of 7 years, persistent purpura lesions, severe abdominal complaints funds decreased factor XIII activity. Renal impairment is usually mild, although some will become chronic. Often the severity of nephritis is not related to the severity of other symptoms of HSP. In patients with HSP may arise of edema. Edema does not depend on the degree of proteinuria but rather on the degree of vasculitis that occur. However, edema is indeed associated with the incidence of proteinuria in patients.
          Sometimes, HSP may be accompanied by symptoms of central nervous system disorders, especially headaches. HSP can be found on the existence of cerebral vasculitis. In some rare cases, HSP allegedly can cause serious disorders such as seizures, paresis, or coma. The symptoms of other neurological disorders that may arise, among others, changes in the level of awareness, apathy, somnolence, hyperactivity, irritability, emotional instability, seizures (partial, complex partial, generalized, status epilepticus), and focal neurologic deficits (aphasia, ataxia, khorea, hemiparese, paraparese, quadraparese. It can also happen poliradikuloneuropathy (Guillain-Barré syndrome) and mononeuropathy (facial nerve, femoral, ulnar).
Liver and gall bladder symptoms may also be involved with hepatomegaly, hydrops of the gallbladder, cholecystitis. All this can lead to complaints of abdominal pain in patients. Acute appendicitis has also been reported in patients with HSP.
        Symptoms - other symptoms that have been reported but are rare among other miokardia vasculitis, pulmonary vasculitis that causes pulmonary hemorrhage bilaterally, ureteritis stenosis, penile edema, orchitis, priapism, intracranial hemorrhage, subperiosteal orbital hematoma bilateral adrenal hematoma and acute pancreatitis.

INVESTIGATION SUPPORTING
      In laboratory tests there have been no specific abnormalities. Normal or elevated platelet counts, distinguishing purpura caused by thrombocytopenia. Can occur moderate leukocytosis and anemia normochromic, usually associated with gastrointestinal bleeding. Usually there are also eosinophilia. Erythrocyte sedimentation rate can be increased or normal. Levels of complement such as C1q, C3 and C4 may be normal or decreased. Examination of IgA levels in the blood may be increased, so did the lymphocytes that contain IgA. Urinalysis may show hematuria, proteinuria and decreased creatinine clearance marks start of kidney damage or because of dehydration, as well as blood in the stool can be found. ANA and RF examination is usually negative, factor VII and XIII can be decreased.
       Biopsy of skin lesion showed leukocytoclastic vasculitis. Immunofluorescence showed deposits of IgA and complement in blood vessel walls. On radiological examination can be found a marked decrease in intestinal motility with intestinal lumen dilation or intussusception by barium examination. Sometimes the barium can also correct the intussusception

DIAGNOSIS
     Diagnosis is confirmed by more specific clinical symptoms rather than with the aid of investigation. Symptoms that may lead to the diagnosis of HSP is purpurik rash on the skin especially in the buttocks and lower extremities with one or more of the following symptoms: abdominal pain or gastrointestinal bleeding, arthralgia or arthritis, and hematuria or nephritis.
          Differential diagnosis of HSP based on symptoms that may arise, among others, acute abdomen, due to meningococcal meningitis, SLE, bacterial endocarditis, ITP, rheumatic fever, Rocky Mountain spotted fever, allergic reaction to medication - drugs, IgA nephropathy, rheumatoid arthritis

TREATMENT
         There is no definitive treatment in patients with HSP. Treatment is supportive and symptomatic, including maintenance of hydration, nutrition, electrolyte balance and overcome the pain with analgesics. For mild arthritis complaints and fever can be used NSAIDs such as ibuprofen. Dose ibuprofen can be given is 10mg/kgweight/6 hours. Edema can be treated with leg elevation. As long as there are complaints of vomiting and abdominal pain, diet is given in the form of soft food. The use of acetyl salicylic acid should be avoided, because it can lead to impaired platelet function is petechiae and gastrointestinal bleeding. When there are symptoms of an acute abdomen, performed the operation. If there is a progressive kidney disorder can be given in combination with immunosuppressant corticosteroids. IV methylprednisolone can prevent worsening of kidney disease when administered early. The dose can be used is methylprednisolone 250-750 mg / day IV for 3-7 days in combination with cyclophosphamide 100-200 mg / hr for severe acute phase of HSP. Continued with corticosteroids (prednisone 100-200 mg orally) and cyclophosphamide hose daily 100-200 mg / hr for 30-75 days before cyclophosphamide was stopped immediately dantappering-off steroids for up to 6 months.
       Prednisone therapy can be administered at a dose of 1-2 mg / kgweight / day orally, divided into 3-4 doses for 5-7 days. Corticosteroids given in a state of disease with very severe symptoms, arthritis, vasculitis of the CNS manifestations, lung and testis, severe abdominal pain, gastrointestinal bleeding, edema and persistent nephrotic syndrome. Giving early in the acute phase may prevent bleeding, obstruction, intussusception and gastrointestinal perforation.

DOWN SYNDROME

 DEFINITION 

two days ago Mbah Dukun Bagong visit his hometown, he met his old friend, he saw his friend's daughter. her face look freaky, like mongoloid face, whats wrong with her?

Down Syndrome, Trisomy 21 or Mongolism, was first described by Dr. Langdon Down in 1865. At that time, the diagnosis of the syndrome was based solely on physical findings. Down syndrome isn't a disease. Down Syndrome is a genetic condition. As the word syndrome implies, it is a collection of common characteristics that is evident not only physically, but also by a degree of learning disability.



ETIOLOGY
Down syndrome is usually caused by an error in cell division called "nondisjunction."  Nondisjunction results in an embryo with 3 copies of chromosome 21 instead of the usual two.  Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate.  As the embryo develops, the extra chromosome is replicated in every cell of the body.  This type of Down syndrome, which accounts for 95% of cases, is called Trisomy 21.
Chromosomes are in simple terms the ‘building blocks’ that give us our individual characteristics, for example, blue eyes, blonde hair etc. Similarly, people with Down Syndrome, who share this extra chromosome, also share common physical features.
Note, the number and structure of chromosomes within an individual cell is referred to as the karyotype of a cell. The term mongolism, mongoloid or mongoloid idiot are outdated and stigmatizing terms and should not be used to describe persons with this condition. The etiology of Down Syndrome relates to the problem of nondisjunction of a 21 chromosome during oogenesis, thus an extra 21 chromosome is provided to the offspring by the mother. Recent studies also implicate paternal etiology through nondisjunction during spermatogenesis.



TYPES of DOWN SYNDROME
There are 3 types of Down Syndrome, although it is generally thought that there is no clinical difference in the three genotypes.
(1) Trisomy 21 (94%): The extra 21 chromosome (three instead of the usual two) produces a complement of 47 chromosomes. Trisomy 21 may also be referred to as Trisomy G.
(2) Translocation (5%): A segment of a 21 chromosome is found attached to other pairs of  chromosomes (usually #14, thus referred to as a 14/21 translocation). These individuals have the normal complement of 46 chromosomes.
(3) Mosaicism (1%): Nondisjunction occurs at a later stage of cell division, therefore, some cells have the normal complement of 46 chromosomes and other cells 47 chromosomes (with an extra 21 chromosome).

The two other types of Down syndrome are called mosaicism and translocation.  Mosaicism occurs when nondisjunction of chromosome 21 takes place in one-but not all-of the initial cell divisions after fertilization.  When this occurs, there is a mixture of two types of cells, some containing the usual 46 chromosomes and others containing 47.  Those cells with 47 chromosomes contain an extra chromosome 21.  Mosaicism accounts for about 1% of all cases of Down syndrome.  Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome.  However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess.
 Translocation accounts for about 4% of all cases of Down syndrome.  In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome, typically chromosome 14.  While the total number of chromosomes in the cells remain 46, the presence of an extra part of chromosome 21 causes the characteristics of Down syndrome.
Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.  This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. 
The cause of nondisjunction is currently unknown, but research has shown that it increases in frequency as a woman ages.  However, due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.  There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents' activities before or during pregnancy.
 Once a woman has given birth to a baby with Trisomy 21, it is estimated that her chances of having another baby with Trisomy 21 is 1% greater than her chances by age alone.
The age of the mother does not seem to be linked to the risk of translocation.  Most cases are sporadic-that is, chance events.  However, in about one third of cases, one parent is a carrier of a translocated chromosome.  The risk of recurrence of translocation is about 3% if the father is the carrier and 10-15% if the mother is the carrier.  Genetic counseling can determine the origin of translocation. 

SYMPTOMS and SIGNS 

What are the characteristic features and symptoms of Down syndrome?
Although the severity of Down syndrome ranges from mild to severe, most individuals with Down syndrome have widely recognizable physical characteristics. These include:
•    a flattened face and nose, a short neck, a small mouth sometimes with a large, protruding tongue, small ears, upward slanting eyes that may have small skin folds at the inner corner (epicanthal fold);
•    white spots (also known as Brushfield spots) may be present on the colored part of the eye (iris);
•    the hands are short and broad with short fingers, and with a single crease in the palm;
•    poor muscle tone and loose ligaments are also common; and
•    development and growth is usually delayed and often average height and developmental milestones are not reached.

 

DIAGNOSIS

How is Down syndrome Diagnosed?
A. Prenatally
There are two types of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. Prenatal screens estimate the chance of the fetus having Down syndrome. These tests only provide a probability. Diagnostic tests can provide a definitive diagnosis with almost 100% accuracy.
 Most screening tests involve a blood test and an ultrasound (sonogram). The blood tests (or serum screening tests) measure quantities of various substances in the blood of the mother. Together with a woman's age, these are used to estimate her chance of having a child with Down syndrome. These blood tests are often performed in conjunction with a detailed sonogram to check for "markers" (characteristics that some researchers feel may have a significant association with Down syndrome). Recently, researchers have developed a maternal serum/ultrasound/age combination that can yield a much higher accuracy rate at an earlier stage in the pregnancy. Still, the screen will not definitively diagnose Down syndrome.
 Prenatal screening tests are now routinely offered to women of all ages. If the chance of having a child with Down syndrome is high from prenatal screening, doctors will often advise a mother to undergo diagnostic testing if they desire a definitive diagnosis.
The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% risk of causing a spontaneous termination (miscarriage), are practically 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester after 15 weeks of gestation, CVS in the first trimester between 9 and 11 weeks. 

B. At Birth
Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile and an upward slant to the eyes.  Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. To obtain a karyotype, doctors draw a blood sample to examine the baby's cells. They use special tools to photograph the chromosomes and then group them by size, number, and shape. By examining the karyotype, doctors can diagnose Down syndrome.  Another genetic test called FISH can apply similar principles and confirm a diagnosis in a shorter amount of time.

MANAGEMENT

Can a baby with Down syndrome be cured?
There is no cure for a child born with this condition but many symptoms can be treated and special early intervention programs are enabling these individuals to develop to their potential.
A child with Down syndrome can usually do most things that any young child can do such as walking, talking, dressing and being toilet trained although they may do these things later than other children.
How is Down syndrome managed?
Although the genetic cause of Down syndrome is known, there is currently no cure. Due to advances in technology, scientists are slowly beginning to understand which genes when present in three copies are responsible for which Down syndrome characteristics, but it will take many years to fully grasp the complex interplay between the different genes. Much research to date is focused on understanding the causes of impaired cognition in Down syndrome and on finding potential therapies that might improve learning. Most of these studies are carried out using animal models of Down syndrome, but some human clinical trials involving potential therapies are also being conducted.
Corrective surgery for heart defects, gastrointestinal irregularities, and other health issues is necessary for some individuals. Regular health checkups should be scheduled to screen for other conditions such as visual impairments, ear infections, hearing loss, hypothyroidism, obesity, and other medical conditions. Individuals with Down syndrome should be fully included in family and community life

Who is at risk of having a child with Down syndrome?
In an individual with Down syndrome, the extra copy of chromosome 21 can come from either the egg or the sperm. It has been shown, however, that as a woman gets older, her chance of having a child with Down syndrome increases, as shown in. In particular, a woman who is 35 years or older at the time of delivery of her baby, has an increased chance of having a baby with Down syndrome.

Haemophilia part 2 (Diagnostic and therapy)

ANAMNESTIC

 Until now the family history is still the best way to do the first riddle of the cases of haemophilia, although there are 20-30% of cases of haemophilia, found X chromosome due to spontaneous mutation in the gene encoding F VIII / F IX. A boy - he allegedly suffered from haemophilia, if there is a history of recurrent bleeding (hemartrosis, hematoma) or a history of bleeding after trauma or stretching certain actions with or without family history.

Antenatal diagnosis can actually be done on pregnant women with risk. Examination of factor VIII activity and antigen levels of F VIII in the blood of the fetus in the second trimester fetus can determine the status of the vulnerability of haemophilia A. Identification of F VIII gene and the gene marker for better and more advisable.
A woman suspected of being the bearer of the nature of haemophilia (career) if he has more than one boy or haemophilia patients have one or more brothers and a young boy or his father's haemophilia patients with haemophilia patients. Detection of haemophilia A career can be done by calculating the ratio F VIIIc activity with antigen F VIIIvW. If the value is less than one has accuracy in determining the career of about 90% of haemophilia, but the heart - the heart on the state of pregnancy, hormonal contraceptive use and the presence of liver disease as it can increase the activity factor VIIIc. F VIII activity - average 50% on a career, but sometimes - sometimes <30% and bleeding can occur after trauma or surgery. Genetic analysis using DNA probes, namely by finding polymorphic loci on chromosome X will provide more precise information.
Laboratory
Laboratory abnormalities found in hemostasis testing in disorders, such as lengthening clotting time (CT) and activated partial thromboplastin time (aPTT), thromboplastin generation test abnormality, with the bleeding and the prothrombin (PT) within normal limits.
Definitive diagnosis established by reduced activity of factor VIII / factor IX, and if facilities are available can be performed cytogenetic examination examination seventh marker gene F / F IX. Activity of F VIII / F IX is expressed in U / ml with a mean activity of clotting factor in 1 ml of normal plasma was 100%. Normal value of F VIII activity / F IX was 0.5 to 1.5 U / ml or 50-150%. Must remember is to distinguish haemophilia A with Von Willebrand diseases, by looking at the ratio of F VIIIc: F VIIIag and activity F VW (ristosetin test) lower.

DIFFERENTIAL DIAGNOSTIC

• Haemophilia A and B with a deficiency of factor XI and XII
• Haemophilia A with Von Willebrand disease (especially the Normandy variant), acquired factor VIII inhibitor and a combination of factor VIII deficiency and factor V congenital.
• Haemophilia B with liver disease, the use of warfarin, vitamin K deficiency, F IX inhibitors is very rarely obtained.

SUPPORTIVE THERAPY

Rational treatment of haemophilia is to normalize the levels of factor antihaemophilia. But there are some things that must be considered
• Perform both avoid injury prevention / conflict
• Plan and maintain a surgical level of clotting factor activity approximately 30-50%
• To overcome the acute bleeding that occurs then the first action that rest, ice, compresio, elevation (RICE) at the location of bleeding
1. Corticosteroids. 

Very helpful to eliminate the acute inflammatory process in sinovitis hemartrosis which happened after the attack. Prednisone 0.5 to 1 mg / kg / day for 5-7 days can prevent the occurrence of residual symptoms such as stiff joints (artrosis) that interfere with daily activities and reduced quality of life for haemophilia patients
2. Analgesic.

Analgesic usage is indicated in patients with severe pain hemartrosis, and should be selected analgesic that does not interfere with platelet aggregation (to avoid usage of aspirin and anticoagulants)
3. Medical Rehabilitation. 

Should be performed as early as possible in a comprehensive and holistic in a team, because the delay would cause the management of both physical disability and disability, occupational and psychosocial and medical edukasi.Rehabilitasi arthritis, haemophilia include: training active / passive, cold and heat therapy (liver - liver), ortosis use, psychosocial therapy and therapeutic recreation also education. 

4. Replacement therapy Clotting Factor
Giving clotting factors are given three times a week to avoid a physical disability (especially joints) so that patients can do normal activities. But to achieve that goal is needed of factors antihemofilia (AHF) is quite a lot with the high cost. Clotting factor replacement therapy in cases hemofili done with F VIII or FIX, either recombinant, concentrates, or blood components that contain quite a lot of factors - such clotting factors. The provision made in a few days until the wounds or swelling improved, and particularly during physiotherapy.
Concentrated F VIII / F IX
Haemophilia A severe or mild and moderate to serious bleeding episodes requiring clotting factor correction with high levels should be treated with F VIII concentrate that has been attenuated virus. Factor IX is available in two forms namely prothrombin Complex Concentrates (PCC) which contains F II, VII, IX, X, and purified FIX Concentrates which contain a number of F IX without other factors. PCC can cause paradoxical thrombosis and coagulation due to intravenous spread by a number of other clotting factor concentrates. Risks can be increased in the provision of factor IX concentrate repeated so purified F IX is more desirable.

A. AHF Cryopresiptat
Is one of the non-cellular blood components that are specific plasma concentrates containing F VIII, fibrinogen, factor Vonwillebrand. May be granted if the F VIII concentrates is not found. One bag contains Cryopresiptat 80-100 UF VIII. One bag containing 100 UFCryopresiptat
B. One-deamino 8-D Arginine vasopressin (DDAVP) or desmopresin
Synthetic anti-diuretic hormone (DDAVP) to stimulate increased levels of F VIII activity in plasma up to four times, but it is temporary. Until now the mechanism of DDAVP is not known entirely, but was recommended to be given to mild and moderate haemophilia A and also on women's careers are symptomatic. Giving can be administered intravenously at a dose of 0.3 mg / kg bw in the 30-50 0.9% NaCl for 15-20 minutes with eight-hour work period. Effect on the granting of this peak reached in 30-60 min. In the year 1994 has been issued in the form of concentrates DDAVP intranasal spray. The recommended dose for patients with body weight <50 kg 150 mg (one spray), and 300 mg for patients with BW> 50 kg (twice a spray), with peak effects after 60-90 minutes. Giving DDAVP for the prevention of bleeding events should be performed every 12-24 hrs. Side effects that may occur in the form of tachycardia, flushing, thrombosis and hyponatremia. Angina can also occur in patients with coronary heart disease
C. Antifibrinolitik
Used on the B haemophilia patients to stabilize the clot / fibrin fibrinolysis by inhibiting the process. This proved very helpful in the management of haemophilia patient with bleeding, especially in cases of oral mucosal bleeding caused by the extraction of teeth because saliva contains an enzyme firinolitik. Epsilon Aminocaproic Acid (EACA) can be given orally or intravenously with an initial dose of 200 mg / kg, followed by 100 mg / kg body weight every six hours (maximum of five grams of each delivery). Tranexamic acid is given a dose of 25 mg / kg body weight (maximum 1.5 g) was administered orally or 10 mg / kg BW (maximum 1 g) intravenously every 8 hours. Tranexamic acid can also be reconstituted with 10% of parenteral fluids, especially the normal saline. 
D. Gene Therapy
The study of gene therapy using retrovirus vectors, adenovirus, and adeno - associated virus provides new hope for patients with haemophilia. Currently under intensive research by moving vivo adenovirus vector carrying the gene into liver cells antihaemophilia. F VIII gene are relatively more difficult than the F IX gene, because of its size (9kb) is bigger, but the end of 1998, the experts succeeded in moving the plasmid - based ex vivo factor VIII into the fibroblasts.
E. FFP (the Fresh Frozen Plasma)  clotting blood cell that has been taken from the red blood transfusion of FFP usually  Perform weight depending on whether haemophilia suffered. If patients with severe levels of the patients had to perform a transfusion of FFP 3x a week, but particularly if it was bleeding that resulted kebengkakan specific area then the transfusion should be done every day until the swelling has become lost. One bag containing the plasma, clotting factors, the complement , and plasma protein, the volume of a bag of FFP is 200-250 ml given six hours after the withdrawal, ABO match, 4-6 units could enhance coagulation factor 20-30%.

COMPLICATIONS
Arthropathy hemophilia: the accumulation of intra-articular blood who settled with the result of degeneration of cartilage and bone joints progressively. This causes a decrease until the destruction of joint function. Hemartrosis that are not managed properly can also cause sinovitis chronic synovial tissue inflammation due process is not endless. Joints that often develop complications are knee joints, ankles and elbows.
Prolonged bleeding due to medical action is often found if not done by providing preventive therapy for hemophilia blood clotting factor and weight are in accordance with the kind of medical practice itself (tooth extraction, circumcision, appendectomy, surgery thoracal / intra-abdominal). While bleeding due to trauma are common in everyday situations such as hemartrosis, intramuscular hemorrhage and hematoma. Intracranial hemorrhage is rare, but if  happened, it would be fatal

Hemophilia part 1

Patient asks to Mbah Dukun Bagong: Mbah, i had a friend, he was died 2 months ago, he got bleeding after circumcised, is circumcised dangerous?
Mbah Dukun Bagong answers: "mmmm i see, circumcised is not dangerous, its "sunnah" God commanded Abraham to circumcise his son, Ishmael. However, there is condition, which person can't be able to circumcised, its called HEMOPHILLIA

Hemophilia is a bleeding disease due to deficiency of blood-derived clotting factors (hereditary) by sex - linked recessive on chromosome X (XH). Although hemophilia is a hereditary disease but approximately 20-30% of patients had no family history of blood clotting disorder, so that spontaneous mutation is thought to occur due to endogenous or exogenous environment.

Clotting mechanism is divided into three basic stages:
1) The formation of plasma thromboplastin intrinsic trombopatogenesis also called, began with the work of platelets, especially TF3 and other clotting factors on foreign surfaces or contact with collagen. Clotting factor is factor IV, V, VIII, IX, X, XI, XII and factor III and VII.
2) Changes in prothrombin into thrombin is catalyzed by thromboplastin, F IV, V, VII, and X
3) Changes in fibrinogen into fibrin by thrombin catalyst, TF 1 and TF 2.5


Hemostasis is good progress within a certain time limit so that not only shaped thromboplastin, thrombin or fibrin are important, but also the formation of each Hemophilia is an inherited blood clotting disorder is first recognized and has been well known since 1911. At that time the disease known as hemophilia due to congenital blood clotting disorders in males are derived by a healthy woman. The term hemophilia there is only limited understanding of massive bleeding in boys with a prolonged period of freezing. It turned out that the definition or restriction is not appropriate that it experiences a change, because not all hemophiliacs who accompanied the memanjang.Hal freezing is caused because the examination of blood clotting time is not sensitive.

Until recently recognized 2 types of hemophilia are reduced sex - linked recessive namely: 

1. Hemophilia A (classical hemophilia), due to deficiency or dysfunction of coagulation factor VIII (F VIII c)


2. Hemophilia B (Christmas disease) due to deficiency or dysfunction of coagulation factor IX (christmas factor)

Gene factor VIII and factor IX is located on the X chromosome and is recessive, then the disease is carried by women (career, XXh) and manifests clinically in male - male (patient XhY); may manifest clinically in women when both X chromosomes in women there are abnormalities (XhXh).

This disease was first recognized at the Judah family that is around the second century AD in the Talmud. In the early 19th century, modern history new haemophilia, genealogy begins with the British royal family about this disease by Otto (1803). Since it is known as hemophilia blood clotting disorder which reduced X-linked recessive, about half a century before Mendel's laws were introduced. Next, Leggpada 1872 successfully distinguish the disease from the disease hemophilia and other blood-clotting disorders based on clinical symptoms, ie, a disorder which is derived with bleeding tendency muscles and joints that lasts a lifetime. At the beginning of the 20th century, hemophilia was diagnosed based on family history and blood clotting disorders. In the year 1940 - 1950 new experts successfully identify F VIII - FIX deficiency in hemophilia A and B. In 1970 the F VIII were isolated from the carrier protein in plasma, namely von Willebrand factor (vW F), so that now can be distinguished between hemophilia A and von Willebrand disease.
Entering the 21st century diagnostic approaches with advanced technology and providing the necessary coagulation factors capable of carrying patients with hemophilia do other healthy activities such as other people without problems.

DEFINITIONS
Haemophilia derived from Ancient Greek, which consists of two words namely Haima, which means blood and philia, which means love or affection. Hemophilia is a bleeding disease due to deficiency of blood-derived clotting factors (hereditary) by sex - linked recessive on chromosome X (XH). Blood on a hemophiliac can not be frozen by themselves normally. The process of blood clotting in a patient with hemophilia is not as fast and as much as any other normal person. He will require more time for blood clotting process. Patients most susceptible to interference, bleeding under the skin, such as if a little bruising clash, or a bruise incurred by itself if the patient has been doing heavy activity; swelling in the joints, like knee, ankle or elbow. The suffering of the people with hemophilia can cause him any harm if bleeding occurs in the vital organs such as bleeding in the brain.

Patient asks to Mbah Dukun Bagong: Mbah, tell me more about Hemophillia!

Mbah Dukun Bagong answers:

ETIOLOGY
Both types of hemophilia, hemophilia A lack of factor VIII and factor IX deficiency hemophilia B, caused by permanent changes are made to the structure of genes. Genetic mutations play a major role in making proteins needed for blood clotting and that one mutation can cause damage in the process of blood clotting.

CLINICAL MANIFESTATIONS
Bleeding is a typical clinical signs and symptoms are often seen in cases of hemophilia. Bleeding can occur spontaneously or from trauma mild to moderate and can arise when babies begin to learn to crawl. Clinical manifestations depend on the severity of haemophilia (clotting factor activity). Signs of bleeding that is often encountered in the form hemartrosis, hematoma subcutaneous / intramuscular, oral mucosal bleeding, intracranial bleeding, epistaxis, and hematuria. Often, too, found that continuous postoperative bleeding small (circumcision, dental extraction).
Hematrosis most commonly found (85%) with consecutive locations as follows, knee joints, elbows, ankles, shoulder, wrist, and so forth. Hinge joints more often experience joint hemartrosis than ball and sockets, because of his inability to resist rotary motion and angular at the time of voluntary or involuntary movement, while the ball and socket joints better able to withstand the movement because of its function.
Intramuscular hematoma occurred in the muscles - the flexor muscles, particularly in the calf muscle, muscle - the region of the iliopsoas muscle (often in the pelvis) and forearm. Hematoma is often causes significant blood loss, compartment syndrome, nerve compression and muscle contractures. Intracranial bleeding is a major cause of death, can occur spontaneously or after trauma. Retroperitoneal bleeding and airway retrofaringeal dangerous to life threatening. Massive hematuria often found and can cause renal colic but not life threatening. Postoperative bleeding is often continued for several hours to several days, which is associated with poor wound healing.