Recurrent Corneal Erosion

Recurrent corneal erosion refers to a disorder of the eye. In this, the outermost layer of epithelial cells of the cornea fails to attach to the underlying basement membrane. The result is a disorder, which is often painful; due to the loss of the epithelial cells that causes an exposure of sensitive corneal nerves. One may suffer from corneal erosions as a result of another disorder, such as map dot fingerprint disease.

A person suffering from recurrent corneal erosion may show symptoms, such as frequent bouts of acute ocular pain, sensation and photophobia. Another feature is above-normal tear formation, which is often at the time of awakening or during sleep when the eyelids are rubbed or opened. Other symptoms, such as corneal abrasion or localized roughening of the corneal epithelium, may also be present.

For the purpose of diagnosis, the doctor may use the magnification of an ophthalmoscope, so that the erosion may be visible. In normal circumstances, fluorescein stain must be applied with a blue-light. Most opticians, optometrists and ophthalmologists today are equipped with slit lamp microscopes, which provide better scope for diagnosis and evaluation under the higher magnification.

As in such a situation, the eye is generally profusely watering, so, it is better to take some steps, to stop this fall of tears. Now, common techniques like administering the eye with water or saline eye drops may actually prove to be ineffective. It is therefore, better to use tear, with a higher content of glycoprotein.

As far as treatment is concerned, there are mainly three types of cures, which may be availed. These include, use of therapeutic contact lens, controlled puncturing of the surface layer of the eye, as well as laser phototherapeutic keratectomy.

Apart from that, several precautions too, need to be taken, such as ensuring that the air is humidified rather than dry, not overheated and without excessive airflow over the face. You should also keep at bay, irritants such as cigarette smoke. Making use of protective glasses especially when gardening or playing with children, is also very important. Apart from that, it is also important to maintain the general hydration levels of the body, with adequate fluid intake.

Regular use of proper eye ointments, as suggested by the doctor, can also be of great help in this condition. Make sure that you do not rub your eyes too often. Use clean tissues, to wipe your eyes and keep your overall surroundings neat and clean. All these steps may help you in dealing with recurrent corneal erosion.

Leopard Syndrome

LEOPARD syndrome, or Gorlin syndrome II, as it is also known as, refers to a part of a group, which is known as neuro-cardio-facial-cutaneous-syndromes. It is an autosomal dominant, multisystem disease, which is very rare and is caused due to a mutation in the, protein tyrosine phosphatase non-receptor type 11 gene. As it is, the disease involves several combinations of features, which mostly involves the skin, the skeletal as well as cardiovascular systems. As it is, they may or might not be prevalent in case of all the patients.

The condition was originally named in 1969. As the condition was characterized usually by seven conditions, the first letters of these symptoms were taken, to spell LEOPARD. The following are the seven characteristics of the condition:

1. Lentigines
The condition is characterized by reddish-brown to dark brown skin lesions, which are usually in a high number and occur over a very large area of the skin. In fact, at times, they may cover more than 80% of the skin. Apart from the skin, these lesions may also appear inside the mouth of the patient, as well as on the surface of the eyes. As it is, irregular borders, along with difference in sizes may be observed as well.

2. Electrocardiographic conduction abnormalities
This is another symptom, which is usually observed on an electrocardiograph as bundle branch block.

3. Ocular hypertelorism
People in this condition have widest eyes, which causes a similar facial resemblance in between patients. As it is, facial abnormalities are a major symptom, as far as the syndrome is concerned. It also involves broad nasal root, protruding lower jaw, along with low-set and at times rotated, ears.

4. Pulmonary stenosis
Narrowing of pulmonary artery is another major feature. Apart from that, other cardiac deformities might be present, such as mitral valve prolapse or aortic stenosis.

5. Abnormal genitalia
Apart from the above symptoms, the patient may feature single testicle. In case of female patients, this may occur as single or no ovaries. This is much harder to detect. As it is, Ultrasound imaging is conducted at regular intervals, in order to determine whether ovaries are present or not.

6. Retarded growth
Another major feature in this condition is that of slow or stunted growth. Although most of the newborns carrying this syndrome are born with normal weight and height, but would often slow in the first year.

7. Deafness
Sensorineural or nerve deafness is also an important feature in this condition.

As it is, LEOPARD syndrome is not actually a life threatening condition and most people diagnosed with this condition tend to live normal lives.

Goldenhar Syndrome

Goldenhar syndrome refers to a rare congenital defect, which is featured by an incomplete development of the soft palate, the ears, the nose, as well as the lips. It is linked with anomalous development in the first branchial arch, as well as the second branchial arch. The condition was first explained in the year 1952 by Maurice Goldenhar.

Quite often the term is used interchangeably with another condition, i.e. Hemifacial Microsomia. However, this definition is generally reserved for patients without internal organ or verterbrae disruption. The condition is believed to be present in every 1 out of 3500 live births in the UK.

As it is, what causes Goldenhar Syndrome is still a mystery. However, it is mostly believed to be multifactorial, although there have been recent revelations on account of similar patterns. Apart from that, it has been revealed that there is also a brachial arch development concern late in the very first trimester, apart from anecdotal evidence, which links it to the exposure to some toxins before or during the course of the pregnancy.

Along with that, there are circumstantial evidence, which reveal that the incidence of Goldenhar syndrome is higher in cases of children of Gulf War veterans. However, a major limitation in this regard has been in the form of the involvement of small numbers, which make the interpretation of the data quite difficult.

Major characteristics of Goldenhar syndrome include incomplete growth of the nose, ear, soft palate, as well as the lips. Apart from that, it is usually found to affect one side of the body. Not only that, a majority of the patients with this syndrome will have growing concerns in regard to internal organs, particularly the kidneys, the heart and the lungs. In most cases, the organ would either not exist on one of the side or would be grossly underdeveloped.

Treatment usually involves surgical options, as might be necessary for helping in the development of the child. This may include repairing of the cleft palate or the lip, jaw distraction or bone grafts, repairing heart malformations, occular dermoid debulking, as well as spinal surgery. Hearing aides might also be necessary, to deal with hearing impairment.

As it is, nine out of ten patients suffering from Goldenhar syndrome would require assistance because the syndrome develops by way of hearing aides, spectacles, wheelchair, walker, nurses aide, apart from generalized aid, in order to function properly on a daily basis.

Aarskog-Scott Syndrome

Aarskog-Scott syndrome, also referred to as, the Aarskog syndrome, is an inherited disease, which is characterized by facial abnormalities, a short stature and skeletal as well as genital anomalies. The syndrome was first explained in the year 1970, by Dagfinn Aarskog, who was a Norwegian pediatrician as well as human geneticist. Then again, in the year 1971, it was Charles I. Scott, Jr., who independently described the syndrome. He was an American medical geneticist.

The syndrome gets transmitted as an X-linked recessive manner. As it is, both male, as well as female off springs of a female carrier are at 50% risk of getting affected with this syndrome. Females might have mild symptoms of the syndrome. It is believed to be caused due to the mutation of a gene, which is known as FGDY1 in band p11.21 of the X chromosome.

Frequent features of the syndrome includes mild to moderately short stature, delayed adolescent growth spurt, along with slight  to moderate mental deficiency, apart from hyperactivity, as well as attention deficit. Social performances have been usually found to be good in such a condition. Apart from that, a rounded face, wide-set eyes, widow’s peak hairline, droopy eyelids, small nose with nostrils tipped forward, down slanting eye slits, along with an underdeveloped mid-portion of the face are other major features which might affect a person suffering from this syndrome.

Not only is that, a person with this syndrome, most likely to feature a wide groove over the upper lip, delayed eruption of teeth, crease below the lower lip, small, broad hands as well as feet, slightly folded top portion of the ear,  in-curving of the fifth finger over, short fingers as well as toes, mild webbing in between the fingers and the toes, broad thumbs, along with big toes, short neck, webbing of the sides of the neck, protruding navel, mild pectus excavatum, inguinal hernias, undescended testicles, as well as shawl Scrotum.

Genetic testing might be available in case of mutations in the FGDY1 gene. As it is, genetic counseling is available for individuals, as well as families, who are at risk of carrying this condition, due to presence of overlapping features, along with Fetal alcohol syndrome. As far as treatment is concerned, surgery might prove to be a necessity, in order to correct some anomalies, whereas orthodontic treatment might be required for the correction of some facial abnormalities. As it is, trials of the growth hormone did not prove effective for the treatment of short stature in this condition.

As in case of children, mental slowness might be present in mild degrees, but the affected children generally have good social skills. In some cases, males might show reduced fertility.

Noonan syndrome

Noonan Syndrome refers to a congenital genetic condition, which is relatively common and affects both males, as well as females in equal proportions. The condition was first explained by Jacqueline Noonan who practiced as a pediatric cardiologist. She noticed that children suffering from a rare type of heart defect, i.e. valvular pulmonary stenosis, quite often had characteristic physical features marked by webbed neck, short stature, low-set ears, as well as wide spaced eyes. She later on presented a paper in 1962. Then, in the year 1971 the name Noonan Syndrome was officially recognized in the Symposium of Cardiovascular defects.

It was often addressed as the male version of the Turner’s syndrome. It is however worth mentioning that, the genetic causes in case of Noonan syndrome and that in case of Turner syndrome are very much distinct. The major characteristic features include short stature, congenital Heart Malformation, indentation of the chest, learning problems, impaired blood clotting, as well as a characteristic configuration in regard to facial features.

According to a rough estimate, one out of every thousand children worldwide is born with Noonan Syndrome. Noonan Syndrome is one of the most common types of genetic syndromes, which is linked with congenital heart disease, matching the frequency to Down syndrome. The range and severity of features however, may vary greatly in case of patients suffering from Noonan Syndrome. It is primarily due to this reason that, the syndrome is not frequently diagnosed at an early age.

As it is, recurrence in case of siblings, along with obvious transmission from the parent to the child has long been the basis for the suggestion that there is an involvement of a genetic defect along with an autosomal dominant inheritance, as well as variable expression. A person suffering from Noonan Syndrome has around 50% chances of getting it transmitting to an offspring.

However, an affected parent may not always be identified for children with Noonan Syndrome. This might be due to several possibilities, such as a parent might carry the gene and yet not get affected by it. The symptoms are diversely expressed and might be so restrained as to go unrecognized. Apart from that, a high range of cases suggest new, sporadic mutations. As it is, Noonan syndrome is a heterogeneous condition and comprises of more than one situation of various causes, out of which some are not inherited. As it is, in most of the cases, of families with multiple members who were affected, Noonan syndrome maps to chromosome 12q24.1.

Fetal Alcohol Syndrome

Fetal alcohol syndrome refers to a disorder, which might occur to the embryo, incase, a pregnant woman indulges in ingestion of alcohol during her course of pregnancy. A major effect of Fetal alcohol syndrome is that of permanent damage to the central nervous system, particularly to the brain. As it is, developing brain cells, as well as structures tend to be underdeveloped or malformed, due to prenatal alcohol exposure, which often creates an array of basic cognitive, as well as functional disabilities.

This results in impulsive behavior, poor memory, poor cause-effect reasoning, attention deficits, mental health problems, as well as drug addiction. Along with that, the risk of damage to the brain exists during each trimester, as the fetal brain evolves throughout the entire course of pregnancy. Now, it is not known whether the frequency, amount, as well as timing of the consumption of alcohol during the pregnancy results in a difference in the degree of damage caused to the fetus. As it is, the current recommendation is not to ingest alcohol, at all during the course of pregnancy.

The Syndrome was explained by Dr. David Weyhe Smith and Dr. Kenneth Lyons Jones of the University of Washington Medical School in Seattle, in the year 1973. They were able to identify a pattern in regard to craniofacial, limb, as well as cardiovascular defects, which is associated with the prenatal onset of growth deficiency, as well as developmental delay. The pattern of the malformations suggested that the damage was more of prenatal.

It is believed that, alcohol crosses through the placental barrier and might inhibit fetal growth, as well as weight, apart from creating distinctive facial deformities, damage to neurons and the brain structures, as well as causing other mental, physical, as well as behavioral problems. According to a few surveys, it was revealed that in the United States, one out of every ten pregnant women recently used alcohol. Not just that, three out of every ten had used alcohol at some point of time, during the course of the pregnancy.

As it is, fetal alcohol exposure is a major known reason, as far as mental retardation cases in the Western world are concerned. In case of the U.S. the prevalence rate for fetal alcohol syndrome is believed to be around 2 cases per 1,000 live births. This is considerably higher than several other developmental disabilities like spina bifida or down syndrome. Various characteristic craniofacial abnormalities are present in case of individuals suffering from Fetal alcohol syndrome. The visibility of Fetal alcohol syndrome facial abnormalities signifies damage to the brain, although it might also be present in their absence.

Gulf War Syndrome

Gulf War syndrome refer to an illness which is visible among combat veterans, who took part in the 1991 Persian Gulf War, characterized by symptoms, which include immune system disorders, as well as other birth defects. It is not clear as to whether these symptoms were linked to Gulf War services or the appearances of illnesses in case of Gulf War veterans tends to be higher than that of other comparable populations.

Various symptoms, which have been attributed to this syndrome, have been of a wide range. These symptoms include dizziness, chronic fatigue, loss of balance, headaches, loss of muscle control, muscle and joint pain, memory problems, indigestion, shortness of breath, skin problems, apart from other serious problems. As it is, the Defense and Veterans Affairs departments has accepted that several disorders, syndromes and diseases like brain cancer, amyotrophic lateral sclerosis, or fibromyalgia, might be potentially connected to the services during the Gulf War.

With the Gulf War at its end, the U.S. Department of Veterans Affairs, along with the British Ministry of Defence conducted several studies on the Gulf War Veterans. As it is, recent researches have revealed that the physical health of the deployed veterans has been similar to that of the non-deployed veterans. However, there is an increment in four out of the twelve medical conditions, which are reportedly linked with the Gulf War syndrome These include chronic fatigue syndrome, dyspepsia, fibromyalgia and eczema. These departments have concluded that while the mortality was substantially higher in terms of deployed veterans, a major reason for such spurt was that of automobile accidents.

Around 210,000 U.S. servicemen and women, who participated in the first Persian Gulf War had themselves registered with the Gulf War Illness database, which was formed by the American Legion. Many of them still suffer from a inexplicable array of serious health related problems. As it is, according to a recent report by the U.S. National Academy of Sciences, it was suggested that excessive illnesses in case of Gulf War veterans might be explained partly by their being exposed to acetylcholinesterase inhibitors.

According to the federally mandated Research Advisory Committee on Gulf War Veterans’ Illnesses roughly 1 out of 4 of the veterans who participated in the first Gulf War has been afflicted with the disorder. A major cause of the illness identified as the exposure to the toxic chemicals. The Committee also states that research in this regard has proven that Gulf War illness is a genuine condition with serious consequences in regard to the affected veterans.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a medical condition characterized by several features like cognitive difficulties, apart from chronic and often severe mental as well as physical exhaustion. As it is, the condition is still not properly explained and is a variably debilitating disorder. It may manifest several disorders of uncertain causation. The condition is also at times referred to as myalgic encephalomyelitis.

The symptoms of chronic fatigue syndrome include cognitive difficulties, extensive muscle and joint pain, chronic and at times severe physical or mental exhaustion apart from several other characteristic symptoms. As it is, fatigue is a major symptom in case of various illnesses. However, chronic fatigue syndrome refers to a multi-systemic disorder and is relatively rare in comparison.

As far as diagnosis is concerned, it requires several features to be taken into account, such as severe mental, as well as physical exhaustion that is unrelieved by the rest, has been worsened due to exertion and should exist for more than six months. The entire diagnostic criterion requires that the signs should not have been caused due to other medical conditions.

Chronic fatigue syndrome patients might be visible with additional symptoms, such as cognitive dysfunction, muscle weakness, orthostatic intolerance, hypersensitivity, depression, digestive disturbances, cardiac as well as respiratory problems, apart from poor immune response. It is still not clear whether these symptoms reflect the co-morbid situations or have been caused due to an underlying etiology of chronic fatigue syndrome. As it is, full resolution takes place in only one out of ten cases.

Chronic fatigue syndrome is believed to affect around 0.4% of the total population in the United States. An interesting feature of this syndrome is that, it has been found to affect the female population, more, than the male population. However, the reason to this is still not clear. It has also been found to affect people in their 40s and their 50s.

Also, the syndrome is believed to be less prevalent in case of children, as well as adolescents. However, researches tend to be conflicting as to the degree. As it is, there is no medical test which can be widely accepted to be diagnostic in regard to chronic fatigue syndrome. It continues to be a diagnosis of exclusion and is based mostly on the medical history of the patient, along with symptomatic criteria. However, a number of tests can helpful in case of diagnosis. As it is, in majority of cases Chronic fatigue syndrome strikes suddenly and is usually accompanied by flu-like condition.

Strabismus

Strabismus refers to a medical condition in which the eyes are not properly aligned with each other. Such a condition results from a lack of coordination between the extra ocular muscles. This causes preventing the gaze of each eye to the same point, as well as preventing proper binocular vision. This might adversely affect depth perception. Strabismus is usually caused by a disorder of the brain coordinating the eyes, as well as a disorder of one or more muscles. So, strabismus can be caused due to any process, which may be due to a dysfunction of the usual direction and power of the muscle or muscles.

In case of strabismus, you can go for an eye examination with an ophthalmologists, orthoptist and optometrist. In most cases, a cover test is conducted, to help in the diagnosis of strabismus. If the child is suffering from Strabismus, then it would fixate on the object, once the straight eye is covered. This would happen if the vision in this eye is good enough.

In case if the straight eye is being tested, then there would be no change in fixation, simply because, it is already fixated. The direction of deviation may be assessed, on the basis of the direction in which the strabismus eye deviates.

The Hirschberg test, is one of the simplest screening tests for strabismus.  In this test, a flashlight is shone in the eye of the patient. As the patient is looking at the bean of light, a reflection is visible on the surface of the pupil. In case Strabismus is not present, then in that case, the reflection will be in the same spot of each eye. Similarly, in case, if the reflection is not in the same place in each eye, then it means that the eyes must not be properly aligned.

Now, it needs to be mentioned here that Strabismus may be considered to be unilateral, in case if the same eye continuously meanders. This may also happen alternatively, where either of the eyes can be seen to meander.

Now, early diagnosis and treatment of strabismus during infancy can greatly reduce the chances of developing amblyopia, along with depth perception problems. Now, it is needless to say that, eyes that are not aligned properly can develop visual problems in future. Prism lenses can also be used to provide some comfort, apart from stopping double vision, although it is not actually a cure for strabismus. It is therefore necessary, to consult a proper physician, in order to give your child a better future.

Loop Syndrome

Blind loop syndrome is a disease which is really cause due to the obstruction in the intestine which really hinders the movement of digested food through the intestine. This really leads to the growth of the bacteria in the intestine and this really leads to the problems in the nutrients absorption.

As the intestine is being obstructed I must say that this really leads to the ineffective bile duct mediated digestion of the fats which causes the fatty stool and the poor absorption of the fat and the fat soluble vitamins. This can really also leads to the deficiency of the vitamin b12 because the increased bacterial population can really consume lots of vitamins.

Causes
The blind loop syndrome is generally caused due to the surgical operation of the abdomen as well as the inflammatory bowel disease or the scleroderma.

Symptoms
Following are the symptoms of this disease:

  1. Loss of appetite.
  2. Nausea.
  3. Diarrhea.
  4. Fullness after a meal.
  5. Fatty stools.
  6. Unintentional weight loss.

These are some of the symptoms which I really feel that you will have to look out for if you want to find whether you are suffering from this disease or not.

You can say that the digestion starts from the mouth but I must tell you that the most important work is done in the intestine. The part which connects the stomach and the large intestine is called the small intestine. Various digestive juices are added I the small intestine. I must tell you that you will find that the large intestine really contains many bacteria’s which really can easily breakdown the food particles.

your small intestine is where food mixes with digestive juices from your pancreas, liver and gallbladder, and where small nutrient molecules - amino acids from proteins, monosaccharide’s from carbohydrates and most fats - are absorbed into your bloodstream.

All these facts really make the loop syndrome a really vulnerable disease but you should not really worry about it a lot. I must tell you that the disease is really curable.

I would now let you know about the tests which you will have to get done in order to know that you are suffering from this disease or not. Following are some of those tests.

  1. Abdominal x-ray.
  2. Abdominal CT-scan.
  3. Contrast enema studies.

These are some of the tests which I really feel that are really quiet good in deciding whether you are suffering from this disease or not.

Treatment
The initial treatment generally involves antibiotics for the bacterial over growth, along with vitamin B12 supplementation. I must say that if the antibiotics are found not to be so effective then I must tell you that the surgical operations can be done which are really quiet handy in various circumstances.