One Million Blue Ribbons

Social responsibility projects are held to create awareness among students and to gain a social favor. Our “one millon blue ribbons project” aims to inform our students about rare illnesses and at same time to create social consciousness by organizing campains.

Students’ learning via the experience of social responsibility projects enables them to meet with different students,make research, feel empathy, help people. It also aims to enforce the group working, dicipline, being organized, learning to organize themselves, as well as developing a perspective on life.

What is a rare disease?

Rare diseases are the specific problems that occur in a small number of people compared to the general population and the rare occurrence of these diseases. In Europe, diseases seen in 1 person in 2000 are considered rare. While a disease is rare in an area, it can be seen frequently in another region. For example, thalassemia of genetic origin is rare in northern Europe and widespread in the Mediterranean region.

How many rare disease are there?

There are thousands of rare diseases known. To date, six to seven thousand rare diseases have been discovered and are regularly described in the medical literature. The number of rare diseases also depends on the accuracy of the definition of the factors that make up the disease.

What are the origins and characteristics of rare diseases?

Almost all genetic diseases are rare diseases; however, every rare disease is not an genetic disease. For example, there are very rare infectious diseases, as well as autoimmune diseases and rare cancers. Today, the cause of many rare diseases is unknown. Rare diseases are serious, mostly chronic and progressive diseases. In many rare diseases such as proximal spinal muscular atrophy, neurofibromatosis, glass bone disease, chondrodysplasia, or Rett syndrome, symptoms may be observed at birth or in childhood. However, more than 50% of rare diseases (such as Huntingon’s disease, Crohn’s disease, Charcot-Marie-Tooth’s disease, amyotrophic lateral sclerosis, Kaposi’s sarcoma, or thyroid cancer) occur during adulthood.

What are the medical and social consequences of the rarity of these disease?

There is a lack of medical and scientific knowledge in the field of rare diseases. Doctors, researchers, and political authorities have long been unaware of rare diseases, and until recently there was no real research or public health policy on issues related to this field. For most rare diseases, there is no cure for the disease; however, appropriate treatment and medical care can improve the quality of life of patients and prolong their life expectancy. Striking advances in certain diseases indicate that we should not stop struggling and continue to strive for research and social solidarity

All those affected by such diseases; In addition to the diagnostic process, it faces similar difficulties in dealing with relevant information and qualified experts. Access to quality health care, general social and medical support, effective communication between hospitals and general practices, as well as professional and social integration and independence have emerged as equally specific problems.

Patients affected by rare diseases are also weaker in psychological, social, economic and cultural terms. These challenges can be overcome through appropriate policies. Many patients cannot be diagnosed because of insufficient scientific and medical knowledge. Diseases of these patients are not defined. These are the most difficult to take appropriate support.

What kind of progress is envisaget in the diagnosis and treatment of rare disease?

Science can provide some answers for all rare diseases.
Today, hundreds of rare diseases can be diagnosed by testing biological samples.
For some of these diseases, it was possible to obtain more information about
the creation of archives and the natural history of diseases.
Researchers are increasingly using networks to share the results of their
research and to make more effective progress.
In many European countries, new prospects are emerging in the field of
rare diseases through European policy and national policies.

Where can I get information aboot a particular disease?

Orphanet offers an inventory of rare diseases and more than 6000 information about this type of disease and also a guide to specialized services in Europe

Rare disease day

Rare Disease Day is the official international awareness-raising campaignfor rare diseases. Rare Disease Day takes place on the last day of February each year. The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare

diseases and their impact on patients’ lives.

Created by EURORDIS and its Council of National Alliances, the very first Rare Disease Day took place in 2008 with events in 18 participating countries.

EURORDIS continues to coordinate the international campaign together with a worldwide patient community. Patient organisations from North

America joined in 2009 and then all continents by 2010.National Alliancesensure the coordination of Rare Disease Day at a national level, working with patient organisations locally and often organising a national event aimed at policy makers.

The number of participating countries has increased year on year, with thousands of eventstaking place on allcontinents for on or around the month of February. In total, events have taken place in over 100 countries since 2008.

Examples of rare diseases

SEMA ERAY ERDEM SECONDARY SCHOOL

1- LIPOİD PROTEİNOZİS (URBACH-WEİTHE SENDROMU)

2- OSTEOGENEZİS İMPERFEKTA

3- Multipl Skleroz ( MS )

LIPOİD PROTEİNOZİS (URBACH-WEİTHE SENDROMU)

A wide range of clinical signs is noted and disease severity is variable, while the course is usually slowly progressive. The usual presenting manifestation is a hoarse cry due to laryngeal infiltration at birth or in infancy. Subsequently, skin and mucous membrane changes develop in the first two years of life. Crusted lesions initially appear on the face and extremities and heal with scarring. Waxy, thickened and at times verrucous skin lesions may affect the face, eyelids, axillae, knees and scrotum. Eyelid beading (moniliform blepharosis) is a hallmark feature but occurs later in childhood. Patchy or diffuse hair loss may be present. The oral mucosa is often involved with cobblestone lips, tongue or gingiva, impaired tongue mobility causing speech problems, and transient swelling and ulceration of the lips and tongue. Oligodontia (see this term) may be present. Respiratory tract infiltration may cause upper respiratory tract infections, hoarseness or aphonia, dysphagia, and airway obstruction. Dystonia, seizures, behavioral changes, learning difficulties and short stature have been reported in affected children. Less commonly, the disease manifests in adulthood with subtle skin findings and possible complications due to visceral deposition. Heterozygous carriers are generally asymptomatic but may have a mild presentation including abnormal dentition.

OSTEOGENEZİS İMPERFEKTA

Osteogenesis imperfecta (OI), also known as “brittle bone disease” is a relatively common hereditary connective tissue disorder characterized by bone deformation, fragility and fractures. Molecular studies have demonstrated that most cases result from mutations affecting the genes responsible for the formation of type 1 collogen. Other frequently affected tissues include tendon, ligament, skin, sclera, teeth, middle and inner ear. Commonly observed dental abnormalities include dentinogenesis imperfecta and malocclusion.

Age at diagnosis depends on the severity of the disease. Five clinically distinct types of OI have been identified. The most clinically relevant characteristic of all types of OI is bone fragility, which manifests as multiple spontaneous fractures. Osteogenesis imperfecta type II is lethal, type III is severe, types IV and V are moderate, and type I is mild (see these terms). Type I is nondeforming with normal height or mild short stature, blue sclera, and no dentinogenesis imperfecta (DI; see this term). Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and DI. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and DI. Type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplastic callus, white sclera, and no DI. Other genetically different types have been observed (types VI to IX) but they are not clinically different from types II-IV.

Multipl Skleroz ( MS )

Multiple sclerosis (MS) caused by the body’s self-defense system, It is an inflammatory disease (autoimmune disease) that occurs in young adulthood, usually between the ages of 20 and 40, which destroys the central nervous system (CNS) caused by the brain and spinal cord. In women, the disease is twice as much as men. Immune cells of the self-defense system mistakenly attack nerve cells, especially myelin sheaths and nerve fibers. When myelin is damaged, neurally transmitted messages are transmitted more slowly or skewed, or not transmitted at all, and the symptoms of MS occur.

Multiple Sclerosis (MS) is not an infectious disease.

Ichthyosis Vulgaris

One of the most important rare diseases which we must remain attentive to it and pay attention to it.

Definition of the disease:

It is a skin disorder that causes skin dryness.It is the most common from of ecstasy which affects 1 in every 250 people.This is why it is known as common fishes.It is usually a hereditary inherited disease (often associated with phyllagrine), although there is a rare,non-conductive version called the acquired fish.

Treatment:

Although there is no way to treat the same disease,there are ways to relieve the symptoms.These include medical aid in the from of pills,use of heavy preparations and oils.

Ichthyosis vulgaris

Ichthyosis vulgaris (also known as “Autosomal dominant ichthyosis,” and “Ichthyosis simplex”) is a skin disorder causing dry, scaly skin. It is the most common form of ichthyosi affecting around 1 in 250 people. For this reason it is known as common ichthyosis. It is usually an autosomal dominant inherited disease (often associated with filaggrin), although a rare non-heritable version called acquired ichthyosis exists..
Even though there is no way to cure the disease itself, there are ways to dampen the symptoms. These include medical help in form of pills, and using heavy lotions and oils.
To maintain the good health of the skin after the symptoms have dampened the person with the disease are advised to go on normally with their lives but to take precautions while showering. This is to take shorter, colder baths than usual to not stress the skin. It is also known to help to use bar-soap, instead of a liquid body wash

Symptoms of ichthyosis Vulgris 

Symptoms of ichthyosis Vulgris include:

• flaky scalp
• itchy skin
• polygon-shaped scales on the skin
• scales that are brown,gray,or white
• severely dry skin
• thickened skin

Symptoms of ichthyosis vulgaris are typically worse in winter,when the air is colder and drier.The patches of dry skin typically appear on the elbows and lower legs.It most often affects the shins in thick,dark segments.In severe cases,ichthyosis vulgaris may also cause deep,painful cracks to develop on the soles of the feet or palms of the hands.

Fatima bent Al-yaman school -Irbid -Jordan

Prepared by :student -Lujain bilal

Teacher:Hanan Al-Omari

Rett Syndrome

Definition of the disease:

Rett syndrome is a disorder in brain growth and is classified as one of the common developmental disorders However,there are some opinions suggesting that this is an incorrect classification,and similar X syndrome can be classified as fragile.

Symptoms of the disease:

Low head growth rate and sometimes small head,hands and small feet.Typical and frequent hand movements were observed. It also notes mental problems and social upbringing between the symptoms. But socialization usually improves in the period they enter school.

Fatima bent Al-yaman school -Irbid -Jordan-prepared by

:student -Lujain bilal -Teacher:Hanan Al-omari.

The Adrenoleukodystrophy 

What is Adrenoleukodystrophy?

AlD causes severe damage to your nervous system.It does this by breaking apart the fatty covering (called myelin) that protect nerves in your brain and spinal cord.This makes it harder for nerves to send messages to your brain.The adreral glands which help control things like your immune system blood pressure and other functions are also harmed by ALD. Because make enough of the hormones you need to be healthy.

How Do You Get ALD?

Mutated gene on the X chromosome (the strand of DNA that decides if you’re born male or female) is the cause of ALD. Males have one X chromosome, so only need to inherit one damaged gene from a parent to be affected. Females have two X chromosomes so are less likely to have ALD. If they do, it’s often less severe.

What Are the Different Types?

ALD can come in several different forms. Symptoms will vary with each one, but often become worse over time.
Cerebral Demyelinating ALD: 45% of people with ALD have this type. It’s the most severe form of ALD.
Adrenomyeloneuropathy (AMN): This adult form of ALD tends to have milder symptoms. About half of those who have it don’t show signs until they’re in their 20s or 30s.
Addison’s disease: Over time, ALD causes severe damage to the adrenal glands. This can’t be reversed.
Female ALD: Women who inherit the mutated gene that causes ALD often don’t have the brain disease, but may show mild symptoms. Most of the time, these start after the age of 35.

How Is ALD Diagnosed?
The illness may take a while to be diagnosed since other illnesses may need to be ruled out first. Many early symptoms can be missed or blamed on more common and milder health issues like Attention Deficit Disorder (ADD) or learning disabilities.
If your doctor suspects ALD, he may order two tests. One is a blood test that looks for a special type of fatty acids that people with ALD have in high amounts. This test works best in men. It’s not as precise when used on women.
The other way to confirm ALD is through an MRI (magnetic resonance imaging). A brain scan can look for lesions (signs of damage) caused by the disease.
Based on your results, your doctor will assign you a “Loes score.” This measures the amount of brain damage seen on a scale from 0.5 (normal) to 34. Anything above 14 is a sign of severe ALD.

How Is ALD Treated?

The list of treatments for ALD is short Bone marrow transplant: Gene therapy Steroids Physical therapy Lorenzo’s oil
What’s the Prognosis?
More research is being done on how to prevent and treat ALD, but the outlook for people who have it is still poor. Death often occurs within 1 to 10 years of first having symptoms.

Fatima bent Al-yaman school -Irbid -Jordan-prepared by
:student -Niserrn badarneh -Teacher:Hanan Al-omari.

The Adrenoleukodystrophy

• What’s the Prognosis?
About 1 in 17,000 people are born with a genetic disease called adrenoleukodystrophy (ALD). This severe brain disorder is sometimes called Addison’s disease or cerebral sclerosis. It mainly affects boys and men. There’s no cure yet, but a diagnosis early in life may keep it from getting worse.

What Is It?
ALD causes severe damage to your nervous system. It does this by breaking apart the fatty covering (called myelin) that protects nerves in your brain and spinal cord. This makes it harder for nerves to send messages to your brain.

The adrenal glands, which help control things like your immune system, blood pressure, and other functions, are also harmed by ALD. Because of that, your body can’t make enough of the hormones you need to be healthy

How Do You Get ALD?
A mutated gene on the X chromosome (the strand of DNA that decides if you’re born male or female) is the cause of ALD. Males have one X chromosome, so only need to inherit one damaged gene from a parent to be affected. Females have two X chromosomes so are less likely to have ALD. If they do, it’s often less severe.
What Are the Different Types?
ALD can come in several different forms. Symptoms will vary with each one, but often become worse over time.
Cerebral Demyelinating ALD: 45% of people with ALD have this type. It’s the most severe form of ALD. Symptoms often start between ages four and eight and include:
CONTINUE READING BELOW
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• Attention Deficit Disorder (ADD)
• Problems with vision, hearing, and motor function
• Behavior problems

• Hyperactivity
• Getting tired easily
• Clumsiness
• Low blood sugar
• Eye pain
• Migraines
• Viral infections that keep coming back
• Skin that looks tanned or bronzed

Adrenomyeloneuropathy (AMN): This adult form of ALD tends to have milder symptoms. About half of those who have it don’t show signs until they’re in their 20s or 30s. Still, like ALD, AMN can cause a severe loss of brain function. Some early signs

Addison’s disease: Over time, ALD causes severe damage to the adrenal glands. This can’t be reversed. The symptoms include:• Weakness
• Fatigue
• Nausea
• Low blood pressure
• Darkened skin
• Stomach pain
Female ALD: Women who inherit the mutated gene that causes ALD often don’t have the brain disease, but may show mild symptoms. Most of the time, these start after the age of 35. They can include:
• Weakness
• Numbness
• Joint pain
• Urinary problems

Fatima bent Al-yaman school -Irbid -Jordan-prepared by

:student -Niserrn badarneh -Teacher:Hanan Al-omari.

Rett Syndrome

Rett Syndrome is a developmental disorder that falls under the umbrella term of “Autism, and is often misdiagnosed as autism, cerebral palsy, or some other non-specific developmental delay. It can be easily recognized early in infancy and is also almost always seen in girls but rarely in boys. It does not affect any one racial or ethnic group and is an indiscriminate disorder that occurs worldwide in 1 of every 10,000 to 23,000 female births. It is caused by mutations on the X chromosome, more specifically a gene called MECP2. In this gene, more than 200 different mutations can be found and most of these occur in eight different “hot spots”. The development of Rett Syndrome normally appears around 6-18 months where the development is halted and then regresses to the point where language and motor skills regress, purposeful hand use is lost, and there is a deceleration in the rate of head growth. Soon, stereotyped hand movements like handwashing, in addition to gait disturbances become apparent. Other problems can also show up such as seizures and disorganized breathing patterns while awake. It results in life-long disability.
It should be noted that it is a developmental disorder that does not worsen over time. It usually causes problems in the brain and impair function that is responsible for cognitive, sensory, emotional, motor, and autonomic function. Some of the symptoms of these problems can be seen in learning challenges, speech impairment, sensory sensations, moods, movement, breathing, cardiac function, as well as chewing, swallowing, and digestion. It’s a disorder that affects a large number of biological functions due to its impact on the brain.Yet, while the motor problems may increase, the irritability lessens and eye contact and communication can improve. An interesting factor of this disorder, is that it can present with a wide range of disability from being mild to severe. The degree of how much Rett Syndrome will affect an individual is determined by the location,type, and severity of her mutation and X-inactivation. As a result, two people with the same mutation, can look and behave completely different.

Fatima bent Al-yaman school -Irbid -Jordan-prepared by
:student -Nagham Jaradat -Teacher:Hanan Al-omari.

BATMAN CUMHURİYET SECONDARY SCHOOL

RARE DISAESES

1-SMALLPOX

2-CORN KUTANEUM

3-CYCLIC VOMITTING SYNDROME

SMALLPOX

Thousands of years ago, variola virus (smallpox virus) emerged and began causing illness and deaths in human populations, with smallpox outbreaks occurring from time to time. Thanks to the success of vaccination, the last natural outbreak of smallpox in the United States occurred in 1949. In 1980, the World Health Assembly declared smallpox eradicated (eliminated), and no cases of naturally occurring smallpox have happened since.

Smallpox research in the United States continues and focuses on the development of vaccines, drugs, and diagnostic tests to protect people against smallpox in the event that it is used as an agent of bioterrorism.

CORN KUTANEUM

Cornu cutaneum is a lesion with hyperkeratoses resembling that of an animal horn and its length varies from a few millimeters to centimeters. Cornu cutaneum is most commonly located in face, ears and other exposed areas. Cornu cutaneum may be associated with benign, pre-malignant and malignant lesions. In this case report we present a 71 years old woman suffering from two cornu cutaneum of which one is called giant cornu cutaneum located in the right cheek for 5 years.

CYCLIC VOMITTING SYNDROME

Cyclic vomiting syndrome is characterized by episodes of severe vomiting that have no apparent cause. Episodes can last for hours or days and alternate with symptom-free periods. Episodes are similar, meaning that they tend to start at the same time of day, last the same length of time, and occur with the same symptoms and intensity.

Cyclic vomiting syndrome occurs in all age groups, though it often begins in children around 3 to 7 years old. Although more common in children, the number of cases diagnosed in adults is increasing.

The syndrome is difficult to diagnose because vomiting is a symptom of many disorders. Treatment often involves lifestyle changes to help prevent the events that can trigger vomiting episodes. Medications, including anti-nausea and migraine therapies, may help lessen symptoms.

KARPUZLU SECONDARY SCHOOL/BATMAN/ AYŞEGÜL BEKTAŞ

RARE DISEASES

1.JUMPİNG FRENCHMEN OF MAİNE

2. ARGRIA SILVER ILLNESS/ KARPUZLU SECONDARY SCHOOL

Argyria is a condition characterized by pigmentary changes secondary to exposure to silver salts and its accumulation in skin, mucous membranes and annexes, which typically produces blue or gray-blue spots. A case of a male patient 62 years old, previously healthy, who has a blue-gray hyperpigmentation on the face, trunk and upper extremity, affecting sun-exposed areas is presented. He admitted having ingested silver nitrate for 5 years at a rate of 1 bottle per week, with the intent to kill microorganisms in his body.

Argyria is an extremely rare condition first detailed by Hill and Pillsbury in 1939, that is thought to have disappeared due to the suspension of the use of silver in drugs orally,However, silver is in local antiseptics such as nitrate and sulfadiazine, nasal drops, dental and photographic material, absorbable sutures, powders used in jewellery, acupuncture needles, and supplements, therefore, may also penetrate through the skin or respiratory tract, in addition to digestive.[

Generalized argyria results from an increase in serum silver levels, secondary to prolonged ingestion of it in its various forms. To be present, it requires a total dose of 6 g orally or 1 g intravenously.

Clinically, argyria characteristically presents with a blue or blue-gray uniform pigmentation of the skin (the sunlight intensifies it), mucous membranes, and nails. From nail, lunula is affected, and the hair take on a metallic look. The gums take a blue coloration. The conjunctival pigmentation is bluish gray or dark brown. It can also affect eyelids, lacrimal caruncle, semilunar fold, cornea, lens, vitreous humor, retina, and optic dis. It can manifest as localized with involvement of the cheek mucosa for amalgam tattoos and in the systemic form affects internal organs and accumulates in the liver, kidneys, and spleen.It can be detected in blood and urine, and cause kidney failure.

Male patient of 62-year-old, who presented with disseminated dermatosis affecting head, neck, chest and limbs, in sun-exposed region, conjunctiva, caruncle; nails at lunula and the proximal half of the nail bed, consisting uniform blue-gray pigmentation. Lesions were five years in evolution and asymptomatic

3.Achondroplasia/ KARPUZLU SECONDARY SCHOOL

Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means “without cartilage formation.” Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence.

Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasiais hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.

4.MOLYBDENUM COFACTOR DEFICIENCY/KARPUZLU SECONDARY SCHOOL

Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as “coarse.”

Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood.

Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.

KARPUZLU SECONDARY SCHOOL

5. Phenylketonuria

NORD gratefully acknowledges Paldeep S. Atwal, MD, FACMG, FRCP(UK), FRCP(Glasg), Clinical & Biochemical Geneticist, Director, The Atwal Clinic: Genomic & Personalized Medicine, for assistance in the preparation of this report.

Synonyms of Phenylketonuria

• classical phenylketonuria
• hyperphenylalanemia
• phenylalanine hydroxylase deficiency
• Phenylalaninemia
• PKU

General Discussion

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life with appropriate blood testing (routine newborn screening). PKU is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine. (Amino acids, the chemical building blocks of proteins, are essential for proper growth and development.) With normal enzymatic activity, phenylalanine is converted to another amino acid (tyrosine), which is then utilized by the body. However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood. These increased levels of phenylalanine are toxic to brain tissue.

Symptoms associated with PKU are typically absent in newborns. Affected infants may be abnormally drowsy and listless (lethargic) and have difficulties feeding. In addition, untreated infants with PKU tend to have unusually light eyes, skin, and hair (light pigmentation) and may develop a rash that appears similar to eczema, an inflammatory skin condition that may be characterized by itching, redness, and blistering in affected areas.

Without treatment, most infants with PKU develop intellectual disability that is typically severe. Those with untreated PKU may also develop additional neurologic symptoms, such as episodes of uncontrolled electrical activity in the brain (seizures), abnormally increased activity (hyperactivity), poor coordination and a clumsy manner of walking (gait), abnormal posturing, aggressive behavior, or psychiatric disturbances. Additional symptoms and findings may include nausea, vomiting, and a musty or “mousy” body odor due to the presence of a by-product of phenylalanine (phenylacetic acid) in the urine and sweat.

To prevent intellectual disability, treatment consists of a carefully controlled, phenylalanine-restricted diet beginning during the first days or weeks of life. Most experts recommend that a phenylalanine-restricted diet should be life-long in persons with classical PKU. Classical PKU refers to persons with 2 severe pathogenic variants of the phenylalanine hydroxylase gene.

Signs & Symptoms

Infants with PKU typically appear normal at birth. With early screening and diet treatment, affected individuals may never show symptoms of PKU. However, untreated newborns with this disorder who are not diagnosed in the first days of life may be weak and feed poorly. Other symptoms of PKU may include vomiting, irritability, and/or a red skin rash with small pimples (eczematoid). These infants with this disorder generally have a musty or “mousy” body odor caused by phenylacetic acid in the urine and/or perspiration.

If children with PKU are not treated, developmental delay may be obvious at several months of age. The average IQ of untreated children is usually less than 50. High levels of phenylalanine interfere with a chemical in the body that is responsible for maintaining pigmentation (melanin). Therefore, affected children usually have a fair complexion and light hair. Symptoms of autism are not uncommon in untreated persons.

Neurological symptoms are present in only some patients with PKU and may vary greatly. Seizures occur in about 25 percent of older children and abnormalities appear on brain wave tests (EEG) in 80 percent of patients. Jerky muscle movements (spasticity), abnormally tight muscles (hypertonicity), and/or increased deep tendon reflexes are among the most frequent neurological symptoms. About 5 percent of children with symptoms of PKU become physically disabled. Slow writhing movements, involuntary muscle movements, and tremors occur in some cases.

Untreated females with this disorder often have spontaneous abortions or fetal growth delays (intrauterine growth retardation). Children of women with PKU may have an abnormally small head (microcephaly) and/or congenital heart disease, and a variety of facial abnormalities. There is a strong relationship between the severity of these symptoms and high levels of phenylalanine in the mother. As a result, all women with PKU who have stopped treatment should return to the diet before conception and continue on the diet throughout any pregnancy. This dietary management should be closely monitored by a metabolic geneticist and metabolic dietitian.

Causes

PKU is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal gene from each parent. If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

More than 300 different changes (mutations) in the PKU gene have been identified. Because the different mutations result in varying degrees of elevation in blood phenylalanine, the diet of each child must be adjusted to the individual tolerance for the amino acid. Laboratory tests in infants with PKU typically confirm plasma levels of phenylalanine that are ten to 60 times above normal levels.

The symptoms of PKU develop because of a defective liver enzyme, phenylalanine hydroxylase. This enzyme enables phenylalanine to be metabolized into tyrosine. Intellectual disability in PKU is a direct result of elevated levels of phenylalanine in the brain which causes the destruction of the fatty covering (myelin) of individual nerve fiber in the brain. It can also cause depression by reducing the levels of dopamine and serotonin in the brain.

Affected Populations

PKU is a rare disorder that affects males and females in equal numbers. The reported incidence of PKU from newborn screening programs ranges from one in 13,500 to 19,000 newborns in the United States. The incidence varies in other parts of the world. PKU affects people from most ethnic backgrounds, although it is rare in Americans of African descent and Jews of Ashkenazi ancestry.

Related Disorders

Symptoms of the following disorders can be similar to those of phenylketonuria. Comparisons may be useful for a differential diagnosis:

Tetrahydrobiopterin (BH4) deficiency is a rare genetic neurological disorder of infancy. It is caused by an inherited inborn error of metabolism. Tetrahydrobiopterin is a natural substance (coenzyme) that enhances the action of other enzymes. When Tetrahydrobiopterin is deficient, an abnormally high blood level of the amino acid phenylalanine, along with low levels of certain neurotransmitters, usually occurs. To avoid irreversible neurological damage, diagnosis and treatment of this progressive disorder is essential as early as possible in life. Symptoms of this disorder usually include neurological abnormalities, lack of muscle tone, loss of coordination, seizures, and/or delayed motor development. (For more information on this disorder, choose “Tetrahydrobiopterin” as your search term in the Rare Disease Database.)

Hyperphenylalaninemia is identified by the presence of abnormally high blood levels of the amino acid phenylalanine in newborns, typically above 360 umol/l (6 mg/dL). It may or may not be associated with altered levels of another amino acid, tyrosine, in these children. This disorder may be a symptom of PKU or it can be linked with short-term deficiencies of either phenylalanine hydroxylase or p-hydroxyphenylpyruvic acid oxidase.

There are many other disorders of infancy with symptoms that are similar to those of PKU. However, newborn screening allows physicians to diagnose this disorder and distinguish it from other neuromuscular or metabolic disorders.

Diagnosis

Newborn screening for PKU is required by law in the United States and in most hospitals in developed countries. The test requires a drop of blood taken from the baby’s heel. It is also possible to detect if a child is carrying a single abnormal gene that causes PKU (heterozygotes).

Standard Therapies

Treatment

The goal of treatment for PKU is to keep plasma phenylalanine levels within 120-360 umol/L (2-6 mg/dL). This is generally achieved through carefully planned and monitored diet. Limiting the child’s intake of phenylalanine must be done cautiously because it is an essential amino acid. A carefully maintained diet can prevent intellectual disability as well as neurological, behavioral, and dermatological problems. Treatment must be started at a very young age (under 3 months), or some degree of intellectual disability may be expected. However, even some late-treated children have done quite well. Studies have repeatedly demonstrated that children with PKU who are treated with a low phenylalanine diet before the age of three months do well, with an IQ in the normal range.

If people with PKU stop controlling their dietary intake of phenylalanine, neurological changes usually occur. IQs may decline. Other problems that may appear and become severe once dietary regulation is stopped include difficulties in school, behavioral problems, mood changes, poor visual-motor coordination, poor memory, poor problem-solving skills, fatigue, tremors, poor concentration, and others such as depression.

After years of controversy, there now is nearly universal acceptance among clinicians treating PKU that the diet needs to be continued indefinitely. Also, many clinicians believe that adults with PKU who stopped the diet in childhood or beyond need to return to the diet. Many young adults have restarted the diet and found improvement in mental clarity as a result of lowered blood phenylalanine levels.

A Consensus Panel convened by the National Institutes of Health (NIH) in October 2000 concluded that it is important for people affected by PKU to adhere to the special diet beyond childhood. In a statement issued at the conclusion of its three-day meeting, the panel noted that dietary control of PKU is one component of a lifelong treatment program that should include regular blood tests and regular visits to a PKU clinic.

Because phenylalanine occurs in practically all natural proteins, it is impossible to adequately restrict the diet using natural foods alone without compromising health. For this reason, special phenylalanine-free food preparations are helpful. There are a number of phenylalanine-free formulas available in the U.S. and in other countries. Foods high in protein, such as meat, milk, fish and cheese are typically not allowed on the diet. Naturally low protein foods such as fruits, vegetables, and some cereals are allowed in limited quantities.

If the intake of phenylalanine is too severely limited in people with PKU, vitamin B-12 deficiency and symptoms of phenylalanine deficiency may develop. These may include fatigue, aggressive behavior, severe loss of appetite (anorexia), and sometimes low iron levels in the blood (anemia). Plasma levels of phenylalanine must be monitored regularly.

In very rare instances, abnormally high levels of phenylalanine may also be caused by a deficiency of tetrahydrobiopterin because of insufficient amounts of either biopterin, an enzyme cofactor, or the enzyme dihydropteridine reductase. Tetrahydrobiopterin is involved in the production of chemicals in the brain (neurotransmitters) such as serotonin, dopamine, and norepinephrine. Low levels of these neurotransmitters could account for the progressive neurological deterioration of children with Tetrahydrobiopterin deficiency, in spite of controlled plasma phenylalanine. (For more information on Tetrahydrobiopterin deficiency, see the Related Disorders section of this report.)

In 2007, Kuvan (sapropterin hydrochloride) was approved by the U.S. Food and Drug Administration (FDA) to treat PKU. Kuvan reduces blood Phe levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4-) responsive PKU. Kuvan is a pharmaceutical formulation of BH4, the natural cofactor for the PAH enzyme, which stimulates activity of the residual PAH enzyme to metabolize Phe into tyrosine. Kuvan is to be used in conjunction with a Phe-restricted diet. Kuvan is manufactured by BioMarin Pharmaceutical Inc.

In 2018, Palynziq (pegvaliase-pqpz) was approved by the FDA for adults with PKU. Palynziq is an enzyme therapy for patients who have uncontrolled blood Phe concentrations on current treatment. Palynziq is manufactured by BioMarin Pharmaceutical Inc.

6.AUTOIMMUNE DISEASES/ KARPUZLU SECONDARY SCHOOL

Hakkari-Çukurca Şehit Bilal Soybilgiç Secondary School

1. SSPE

2. Elefantiyazis

3.Mukopalisakkaridoz and Lysosomal Storage

SSPE

Subacute sclerosing panencephalitis, a progressive and usually fatal brain disorder, is a rare complication of measles that appears months or years later and causes mental deterioration, muscle jerks, and seizures.

• Subacute sclerosing panencephalitis is caused by the measles virus.

• The first symptoms are usually poor school performance, forgetfulness, temper outbursts, distractibility, sleeplessness, and hallucinations.

• The diagnosis is based on symptoms.

• This disorder is usually fatal.

• There is no treatment for subacute sclerosing panencephalitis.

Treatment

• Anticonvulsant drugs for seizures

Nothing can be done to stop the progression of subacute sclerosing panencephalitis. Anticonvulsant drugs may be taken to control or reduce seizures.

Elefantiyazis

Elephantiasis, also known as lymphatic filariasis, is a very rare condition that’s spread by mosquitoes.

The common name is often used because if you have it, your arms and legs can swell and become much bigger than they should be. Your sex organs and breasts may also swell up. The affected skin can thicken and harden to look something like an elephant’s skin.

It’s more common to people who live in tropical or subtropical areas.

Causes

Usually, to get elephantiasis, you would have to be bitten by a lot of mosquitoes over a long time, in a country where certain types of roundworms are known to exist.

If you have it, there are medicines and treatments to help with the swelling and discomfort

Mukopalisakkaridoz and Lysosomal Storage

Lysosomal storage diseases (LSDs) are a large group of disorders caused by a deficiency of specific enzymes responsible for the degradation of substances present in lysosomes.

In the past few years, treatments for LSDs were non specific and could only cope with signs and symptoms of the diseases. A successful therapeutic approach to LSDs should instead address to the underlying causes of the diseases, thus helping the degradation of the accumulated metabolites in the various organs, and at the same time preventing their further deposition. One way is to see to an available source of the deficient enzyme: bone marrow transplantation, enzyme replacement therapy and gene therapy are based on this rationale. The purpose of substrate reduction therapy is to down regulate the formation of the lysosomal substance to a rate at which the residual enzyme activity can catabolize the stored and de novo produced lysosomal substrate. Chemical chaperone therapy is based on small molecules able to bind and stabilize the misfolded enzymes.

FETHİYE SCIENCE AND ART CENTER

MUĞLA / TURKEY

TEACHER: IŞIL İLKEM ERENOĞLU

STUDENTS: AYSU DENİZKUŞU (TEAM 1)

AND ASLI KOÇAK (TEAM 2)

RARE DISEASES:

1. Charcot-Marie-Tooth

2. Systemic lupus erythematosus (SLE)

3. Pareidolia

1. Charcot-Marie-Tooth disease

What is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies.

What are the symptoms of Charcot-Marie-Tooth disease?

The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.)  A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an “inverted champagne bottle” appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue).

Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in mid-adulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy.

A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a “butterfly rash” because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cell fragments involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.

3. Pareidolia

The science behind seeing faces in everyday objects

Ever tried to look for shapes in clouds, or seen a face burned into your toast? Pareidolia is a psychological phenomenon that causes people to see patterns in a random stimulus. This often leads to people assigning human characteristics to objects.

Usually this is simplified to people seeing faces in objects where there isn’t one.

Why do you see faces in objects?

Evolutionary psychologists argue that the phenomenon of Pareidolia was advantageous to our ancestors. They argue that it helped them to survive for the following reasons:

• Babies are more likely to be cared for if they experience pareidolia.Astronomer, Carl Sagan, theorises that, “Those infants who a million years ago were unable to recognize a face smiled back less, were less likely to win the hearts of their parents, and less likely to prosper”. Therefore, it could be argued that this survival has allowed pareidolia to pass on through the generations.
• Protection from predators. It was safer for the ancestors we evolved from to assume they see a face, even where there is none.

Christopher French, of the British Psychological Society, says, “A classic example is the Stone Age guy standing there, scratching his beard, wondering whether that rustling in the bushes really is a sabre-toothed tiger. You’re much more likely to survive if you assume it’s a sabre-toothed tiger and get the hell out of there – otherwise you may end up as lunch”.

Who is most likely to experience pareidolia?

It is often hypothesised that people who are more religious, or believe in the supernatural, are more prone to pareidolia.

Studies show that neurotic people, and people in negative moods, are more likely to experience pareidolia. The reason for this seems to be that these people are on higher alert for danger, so are more likely to spot something that isn’t there.

Women seem to be more prone to seeing faces where there are none. This may be linked to the fact that they have a better ability to recognise emotions through deciphering facial expressions.

Whoever you are, whatever you’re doing, you can experience pareidolia. Don’t let it shock you, it’s just your ancient survival instincts kicking in.

MENTEŞE CUMHURİYET SECONDARY SCHOOL / MUĞLA

SUNA KARABOĞA

EYLÜL ERTEN

FUNDANUR KARATAŞ

1-Phenylketonurie

2-Neurofibromatosis

3-Tripofobi

1-Phenylketonurie

.  Phenylketonuria is a disease that can pass through family participation. Children born with this disease cannot metabolize a substance named phenylalanine found in protein foods. Accordingly, this substance and its wastes, which are increased in blood and other body fluids, devastate the child’s developing brain. Therefore, it causes the child to have severe mental retardation and many other symptoms related to the nervous system.

INDICIATIONS

In the first few months of life, the characteristics that distinguish the babies with phenylketonuria from healthy babies cannot be noticed. In children who are untreated, nervous system symptoms begin to form around the 4th month. After the 5th – 6th months, in addition to the apparent mental retardation in childhood, skills such as sitting, walking and speaking cannot develop. Because their brain development is not normal, their heads remain small. In addition, vomiting, excessive hand, arm, head movements, epileptic seizures, skin rash, urine and sweat smell like mildew is an important symptom of the disease. 60% of these children have more eye, eyebrow and skin color than the parents.

TREATMENT

When early diagnosis, phenylketonuria is a disease that can be treated. The general principle of treatment is to keep the blood phenylalanine level within normal limits by reducing the amount of phenylalanine taken with food. For the treatment of diet, phenylalanine must be used which is very low in special and pharmaceutical formulas. Treatment should continue for the first 8-10 years when brain tissue develops most rapidly

2-Neurofibromatosis

WHAT IS NEUROFIBROMATOSIS DISEASE?

Neurofibromatosis is a genetic disease that causes tumors to develop in nerve tissue. These tumors can develop anywhere in your nervous system, including the brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood. Tumors are usually non-cancerous (benign), but sometimes cancerous (malignant). Symptoms are usually mild. However, complications of neurofibromatosis include hearing loss, learning disability, heart and blood vessel problems (cardiovascular), loss of vision, and severe pain. Neurofibromatosis treatment maximizes healthy growth and development and aims to manage complications at the time it occurs. Neurofibromatosis can alleviate surgical symptoms when it causes large tumors or tumors that compress a nerve. Some people may benefit from other therapies, such as stereotactic radiosurgery or drugs used to control pain.

3-TRIPOFOBI

Tripophobia can be referred to as “hole phobia” in its most flat definition. If you have this phobia, you will be irritated from holes and perforated surfaces. Tripophobia is a very uncomfortable disease. It can also be called perforated hand disease among the population. Latin is also known as trypophobia. Yes, friends, this is a real disease. Psychologically, this is a situation that bothers you. It occurs as a result of a traumatic event as a child. The fear of holes with tripophobia or public expression is sometimes temporary and sometimes temporary. Do not look at these images or look at it if you say the most obvious treatment and how it goes: check it out:

Çekmece Yılmaz Nurlu Secondary School

Rare Disease

• Diprosopus
• Moebius
• Sotos Syndrome

Diprosopus

Diprosopus is a rare disease worldwide.

Diprosopus, usually human In this article, we will examine the hypocrisy of the mold as a disease, not a hypocrisy, a type of behavior. The disease, also known as cranofacial mating, is an extremely rare genetic disorder and causes the individual to have two faces. In contrast to the two-headed brain, however, the brain is common, two hundred. In other words, it is not the twin or sibling embryos that are not properly separated, but the formation of two faces of a single individual.

This consists of errors in SHH proteins known as sonic hedgehog homologs. SHH is an important protein that normally determines the formation of facial and facial features. However, if it is produced more than it should be, it starts to create a second face instead of a single face. The more produced, the more detailed a second face is formed.

This disease caused by a genetic disorder also called hypocrisy. Your name born live, fully completed or majority has two completed faces. Development of life in the formation of hypocrisy SHH protein responsible for facial formation during Causes excessive secretion. the hypocrisy a single individual is mentioned. Separable identical twins or double heads formation is not in question. Diprosopusdisease in many animals, including human rarely seen. But with this disease living from the earth can not live very long and usually in the first hours or days of life they lay eyes on life.

Moebius syndrome

There is no treatment that eliminates Moebius syndrome.

Moebius Syndrome Treatment

There is no treatment that eliminates Moebius syndrome. Currently, treatment in patients with Moebius is based on relieving the symptoms and stabilizing the course of the disease. Deformities can be eliminated by a number of surgical procedures. Some muscle transfers can be performed in order to ensure that smile abilities are limited or preserved.

Surgical treatment

Surgical treatment is not possible to eliminate this disease, but the uy The Smile Operation s ie “Smile Operation mümkün is transferred to the muscular face, called gracilis in the thigh. It connects to the nerves of the masseter muscle, which allows laughter to function. This surgery is still considered to be the best option for moebius syndrome. Another operation is temproal tendon transfer in unilateral paralysis. In addition, surgery may be necessary to correct deformities of the extremities and jaws.

Moebius Syndrome is an extremely rare congenital neurological disorder characterized by facial paralysis and left and right movement of the eyes. The disease does not show progressive features. It is known that the symptoms of the disease are related to Poland Syndrome. If we look at its history, we see that it was defined in 1888 by P.J.Moebius, a neurologist.

Male and female sexes are kept in equal proportions. Now let’s talk about some cranial nerves. The cranial nerve innervates the lateral muscle of the rectus. This allows the muscle to move out of the eye. 7. The cranial nerve is a more complex nerve. It provides control of the muscles forming the facial expression while providing the taste sensation of 2/3 of the tongue.

Sotos Syndrome

Sotos Syndrome was first described in 1964.

Diagnostic

The diagnosis of Sotos syndrome tends to be made years after birth. After a detailed anamnesis, the patient can be examined by x-ray. Chromosome analysis is an important step for the finalization of the diagnosis. Biochemical markers are not significant for diagnosis. Diagnosis of sotos syndrome during pregnancy can be made by genetically examining materials obtained by amniocentesis or chorionic villus sampling.

Treatment

A treatment that eliminates the disease has not yet been found. Our main goal for the treatment of Sotos syndrome is to eliminate the neighborhood densities. Physical therapy and behavioral therapies are very useful in this syndrome. In order to plan the treatment of a child affected by this disease, a specialist physician from many different branches may be needed. The planned patient should be checked at regular intervals.

SEKER SECONDARY SCHOOL

HÜZAN AKYOL YILMAZ – BURDUR

Diseases

1-Argyria

2-Frenchmen Syndrome

3-Romatoid Artreid

1-Argyria

Argyria is a rare skin condition that can happen if silver builds up in your body over a long time.It can turn your skin, eyes, internal organs, nails, and gums a blue-gray color, especially in areas of your body exposed to sunlight. That change in your skin color is permanent

2-Frenchmen Syndrome

Those who have  Frenchmen syndrome are unaware of unexpected reactions, leaping off the ground, throwing out their hands, crying, holding their breath, and trembling. They are more sensitive to voice and tactile warnings.

 6.Romatoid Artreid

 Rheumatoid arthritis is a chronic     inflammatory disorder that can affect more than just your joints. In some people, the condition also can damage a wide variety of body systems, including the skin, eyes, lungs, heart and blood vessels

AHMET YESEVİ SECONDARY SCHOOL / FATMA NUR ŞARA – ERZURUM

1. HIGHLANDER SYNDROME

2. COTARD SYNDROME

3. MIKROPSI

1)HIGHLANDER SYNDROME

Shin Hyomyung, who seems to be aged 12-13 in South Korea, is actually 26 years old. Physiological development of Hyomyung, a disease called Highlander syndrome, remained in childhood and sounded like a complete child voice.

2) COTARD SYNDROME

It is a mental illness that a person considers as dead. In this very rare syndrome, the nihilistic (absence, nothingness) delusions about his body appear to deny himself and the world’s existence, hallucination, suicidal thoughts to prove that he is dead.

3) MIKROPSI

Syndrome is a neurological disease caused by the inability to operate the signals between the eyes and the brain. People with this syndrome see a part of their body much larger than the objects around them. Their perception of time and space is complex. Likewise, people with microps claim that they stepped on the ground even though their feet did not hit the ground when they stepped. The reason why the disease is expressed as Alice Wonderland syndrome is that the author Lewis Carroll’s book is inspired by microbe disease as he writes the world famous book.

SEMA ACAR / BALCILAR MEHMET ULU İMAM HATİP SECONDARY SCHOOL KONYA

Rare Diseases

Eisenmenger Syndrome

Molybdenum cofactor deficiency

SMA (spinal muscular atrophy)

Eisenmenger Syndrome

Eisenmenger  syndrome is a complication of a heart defect that you’re born with (congenital).

A heart defect that causes a hole (shunt) to develop between two chambers of your heart is the most common cause of Eisenmenger syndrome. This hole causes blood to circulate abnormally in your heart and lungs. Increased blood flow returns to your lungs instead of going to the rest of your body. The blood vessels in your lung arteries become stiff and narrow, increasing the pressure in your lungs’ arteries. This permanently damages the blood vessels in your lungs.

Eisenmenger syndrome is a life-threatening condition requiring careful medical monitoring. Medications can improve symptoms and prognosis.

Molybdenum cofactor deficiency 

Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. Other features of molybdenum cofactor deficiency can include a small head size and facial features that are described as “coarse.”

Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.

SMA (spinal muscular atrophy) 

SMA (spinal muscular atrophy), which causes children to lose their lives, affects motor nerve cells in the spinal cord, eliminating the ability to walk, eat or breathe. It is the number one genetic death for babies. The SMA is caused by a mutation motor neuron gene (SMN1) mutation. SMA is available in 1 person per 6,000 to 10,000 live births. Individuals with SMA have difficulty in performing the basic functions of life, such as breathing and swallowing. However, SMA does not affect a person’s ability to relate, think and learn to others.

FEVZİYE YILDIZ

ZENGEN GAZİ MUSTAFA KEMAL SECONDARY SCHOOL

STUDENTS;

ALİYE KİRAZCI

ASLIHAN ZERİĞ

human papilloma (HPV)

Progeria 

Alveoler proteinozis

Human Papilloma (HPV)

HPV is a group of more than 150 related viruses. Each HPV virus in this large group is given a number which is called its HPV type. HPV is named for the warts (papillomas) some HPV types can cause. Some other HPV types can lead to cancer. Men and women can get cancer of mouth/ throat, and anus/rectum caused by HPV infections. Men can also get penile HPV cancer. In women, HPV infection can also cause cervical, vaginal, and vulvar HPV cancers. But there are vaccines that can prevent infection with the types of HPV that most commonly cause cancer.

How do people get HPV?

HPV is transmitted through intimate skin-to-skin contact.

HPV can be passed even when an infected person has no signs or symptoms. You can develop symptoms years after being infected, making it hard to know when you first became infected.

Treatment HPV

There is no treatment which can eliminate the HPV infection that can only end is to cut part of the infection out. The cut out pieces of flesh are not able to prevent the spread of the virus. However, this disease can become repetitive.

Progeria

It is also known as Hutchinson-Gilford progeria syndrome (HGPS), is a rare genetic condition that causes a child’s body to age fast. Most kids with progeria do not live past age 13. The disease affects both sexes and all races equally. It affects about 1 in every 4 million births worldwide.Progeria is not inherited, or passed down in families.

Pulmonary alveolar proteinosis

Pulmonary alveolar proteinosis (PAP) is a lung disease characterized by an abnormal intra-alveolar accumulation of surfactant-derived lipoproteinaceous material.

Epidemiology

Pulmonary alveolar proteinosis is rare and usually presents in young and middle-aged adults (20-50 years of age) . Smoking is strongly associated with the condition, and in smokers, there is a recognised male predilection  , which is absent in non-smoking patients .

Pathology

The understanding of PAP has evolved considerably over time.

PAP was originally defined by histopathologic findings of amorphous periodic acid-Schiff (PAS) stain (+) lipoproteinaceous material filling the alveoli, with relatively normal background lung architecture . Upon discovery that the PAS(+) material represents debris derived from the pulmonary surfactant, it became clear that PAP represents a disorder of surfactant turnover .

Treatment and prognosis

Standard treatment includes therapeutic whole-lung bronchoalveolar lavage to remove alveolar material, although its role in children is less certain . GM-CSF supplementation has been used with varying effectiveness .

Prognosis is variable, ranging from improvement (with treatment) to a chronic and terminal course. A 30% 2-year mortality has been reported in adults prior to routine use of bronchoalveolar lavage . The 5-year mortality has now been reduced to approximately 5% . In children, that figure is much higher due to the reduced efficacy of bronchoalveolar lavage .

                  GÜLŞAH MUTLU

TOKİ ŞEHİT JANDARMA YARBAY ALİM YILMAZ SECONDARY SCHOOL

1.APERT SYNDROME

2.RAMSAY HUNT SYNDROME

3.HYPERDONTIA

GROUP1:GİZEM ESRA TÜRKÖZ

GROUP2:EFE TÜRKAY YILDIZ.M.ÖMER TÜRKER

APERT SYNDROME

Background

Symptoms

Characteristic symptoms of Apert syndrome include:

• a cone-shaped skull, known as turribrachycephaly
• a face that is deep-set in the middle
• eyes that are wide and bulge outwards
• a beaked nose
• an underdeveloped upper jaw, which can cause the teeth to become crowded

The facial and skull abnormalities can lead to some health and development problems. If not corrected, vision problems often occur as a result of shallow eye sockets. The upper jaw is usually smaller than average, which can lead to dental problems as the child’s teeth grow.

With Apert syndrome, the skull is smaller than usual, which can put pressure on the developing brain. People with Apert syndrome may have an average level of intellect, or a mild to moderate intellectual impairment.

Children born with Apert syndrome often have webbed fingers and toes. Most often, three fingers or toes are fused together, but sometimes a whole set of fingers or toes may be webbed. Less commonly, a child may have additional fingers or toes.

Additional signs and symptoms of Apert syndrome include:

• hearing loss
• severe acne
• heavy sweating
• fusion of spinal bones in the neck
• oily skin
• missing hair in the eyebrows
• growth and development delays
• recurrent ear infections
• a cleft palate
• mild to moderate intellectual disabilities

Diagnosis

Apert syndrome can often be diagnosed at birth or at an early age.

To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet.

A doctor may perform a skull radiograph or CT scan of the head to determine the nature of the bone abnormalities. Molecular genetic testing may also be used to help with diagnosis.

RAMSAY HUNT SYNDOME

Signs & Symptoms

Causes

Diagnosis

HYPERDONTIA

Hyperdontia is a condition that causes too many teeth to grow in your mouth. These extra teeth are sometimes called supernumerary teeth. They can grow anywhere in the curved areas where teeth attach to your jaw. This area is known as the dental arches.

The 20 teeth that grow in when you’re a child are known as primary, or deciduous, teeth. The 32 adult teeth that replace them are called permanent teeth. You can have extra primary or permanent teeth with hyperdontia, but extra primary teeth are more common.

The exact cause of hyperdontia is unknown, but it seems to be associated with several hereditary conditions, including:

• Gardner’s syndrome. A rare genetic disorder that causes skin cysts, skull growths, and colon growths.
• Ehlers-Danlos syndrome. An inherited condition that causes loose joints that easily dislocate, easily bruised skin, scoliosis, and painful muscles and joints.
• Fabry disease. This syndrome causes an inability to sweat, painful hands and feet, a red or blue skin rash, and abdominal pain.
• Cleft palate and lip. These birth defects cause an opening in the roof of the mouth or upper lip, trouble eating or speaking, and ear infections.
• Cleidocranial dysplasia. This conditioncauses abnormal development of the skull and collarbone.]

While some cases of hyperdontia don’t need treatment, others require removing the extra teeth. Your dentist will also likely recommend removing the extra teeth if you:

• have an underlying genetic condition causing the extra teeth to appear
• can’t chew properly or your extra teeth cut your mouth when you chew
• feel pain or discomfort due to overcrowding
• have a hard time properly brushing your teeth or flossing because of the extra teeth, which could lead to decay or gum disease
• feel uncomfortable or self-conscious about the way your extra teeth look

If the extra teeth are starting to affect your dental hygiene or other teeth — like delaying the eruption of permanent teeth — it’s best to remove them as soon as possible. This will help avoid any lasting effects, such as gum disease or crooked teeth.

If the extra teeth only cause you mild discomfort, your dentist may recommend taking nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin) for pain.