This is a syndrome that is seen to normally affect individuals  in such a way that they have malformations of nipples and the abdominal wall too. If the individual is younger then he might have some difficulties in language and also in some cases there are instances of mental retardation too.

The Ablepharon macrostomia syndrome has a kind of recessive pattern while inheriting the qualities. It has been seen that this is normally inherited in a manner that is scientifically termed recessive. So it is also called an autosomal recession pattern. This indicates that the gene that is responsible for this kind of disorder is situated on an autosome and the there are two replicas of the defective gene. The gene inherited from the father and the gene inherited from the mother is needed to be born with this kind of disorder. So if both the parents give the defective gene then is when it is supposed to occur. The parents of the individual normally carry this disorder with recession and also carry the defective gene but normally do not experience the signs and symptoms that are so connected to the disorder.

Symptoms of Ablepharon macrostomia

The Ablepharon macrostomia condition is seen to occur with some symptoms. These are:- Short eyelids, lack of eyebrows or eyelashes, and there are some abnormalities of the ear. Then there is alopecia.

Treatment of Ablepharon macrostomia

The treatment of the condition is usually followed reconstructive surgery. The surgery is required to treat the undescended testes or the hernia that is usually with the disorder. Ablepharon or abelpharia normally is the congenital absence of the eyelids. The name comes from the term Blepharo which means eyelid and A meaning the absence of.

This rare genetical disorder is normally affected in individuals who are prone to it biologically and due to genetic relations. So the lack of under developed eyelids being the main feature of this conditional there are other conditions like the fish like mouth which is called macrostomia then there are low set ears besides many abnormalities in the eyes too. The skin is normally thin, dry, sparse and also coarse in such individuals and has a lot of folds. There are webbed fingers with a limited finger growth and they extend only for a little distance. Then the genitalia are also seen to get affected and there is a protrusion of the large intestine such that it projects out of the wall of the abdomen. This is known as abdominal hernia.

Causes of Ablepharon Macrostomia

The causes of this unique syndrome are not yet known and most of the cases say that this could be inherited as a genetic trait of the autosomal recessive kind. There are many children and also infants with this kind of syndrome and these children thus show a lot of delay in language development. Then some have a little mild retardation too.

Ablepharon Macrostomia has been seen in lesser number of people. There are visual problems which never seem to heal, and then the syndrome is also related to some early corneal exposure too. There is a certain amount of hearing loss, and also the absence of lanugo in the body. There are short metacarpal bones which have been very commonly seen.

Ablepharon Macrostomia is not the same as the Barber Say syndrome which also has the macrostomia factor. In the case of AMS the abnormalities of the genitalia are more severe than the Barbey Say syndrome. Both the syndromes have sparse eyebrows, abnormal formation of the nose, hypo plastic nipples, and sparse eyelashes. The only difference lies in the marked hypertichosis condition in the Barber Say Syndrome.

With the advent of plastic surgery it is very easy to rectify the discrepancies in structure, so it is better to attend to the conditions of Ablepharon Macrostomia rather than leave it that way.

Abetalipoproteinemia thus is a condition that absorbs the dietary fats, and certain vitamins and also absorbs cholesterol. Normally people who are affected by this disorder have a situation where lipoproteins, cannot be made, and are molecules that have proteins along with cholesterol, and triglycerides which are a particular kind of fat. This condition leads to a lot of deficiency of vitamins and affects the fat soluble vitamins in the body. So Vitamin A, Vitamin e, Vitamin D, and VitaminK are all affected by this condition. But it is seen that vitamin E is affected maximum due to this deficiency.

Signs and Symptoms

The signs and symptoms of Abetalipoproteinemia appear in the initial stages of life. This is because the pancreatic lipase is not active during this period. So the weight does not increase as expected so the person affected would not have weight gain.

The person could have diarrhea which is characterized by abnormal star shaped red blood cells which is called acanthocytosis. The stools are filled with fat and are foul smelling. This is called Steatorrhea. The stool has lot of fat and blood in it.

The other symptom of this condition is that there could be disorders that develop much later in Childhood wherein the nervous system is affected. This is inclusive of muscle co-ordination, and also a lot of difficulty in movement and balance. This condition is called ataxia. There is a progressive degeneration of the retina. The layer of light sensitivity at the back of the eye is affected and this results to near blindness. This happens due to the deficiency of Vitamin A or retinol.

Signs in the adults have difficulty in the age group of thirties or forties and they have difficulty in balancing and walking. There are many signs and symptoms of Abetalipoproteinemia which results due to a major vitamin deficiency.

Protruding abdomen is another symptom of this rare condition. Then there is mental retardation, along with a lot of dyspraxia. The muscles are weak and the speech is slurred and the spine has a curvature which is called scoliosis. Retinitis Pigmentosa is a condition that is caused due to this rare condition.

Diagnosis

The diagnosis of this condition is the reduced capacity to absorb fat in the ileum. This results in steatorrhea or the fat in the stool. This is thus clinically diagnosed only if the foul smelling stool is tested. With the low levels of plasma chylomicrons are seen and the blood smear can also have acanthocytes.

Apolipoprotein B is absent so on a biopsy of the intestine there are vacuoles that contain lipids that are visible in enterocytes. As there is not much assimilation of the chylomicrons, the levels in plasma always remain low. So fat gets accumulated in the liver. This is the condition that is called hepatic steatosis. The epithelial cells in the intestines and the bowels do not have the capacity to put fats in the chylomicrons and so lipids accumulate at the cell surface thus crowding the factors that cause absorption in the body.

Treatment

Treatment normally has a good diet and absolutely monitored food intake. The food majorly includes a lot of Vitamin E. this helps the body to get back to its original condition and produces the lipoproteins that is absent in the patients with Abetalipoproteinemia. Vitamin E keeps the skin smooth and the eyes healthy. In fact it is seen that males who have vision problems later in life might be suffering from this rare condition. Physiotherapy and occupational therapy are ways of strengthening the muscles and a restricted triglyceride intake would make the condition much better.

Abetalipoproteinemia is a condition where the body refuses to absorb fat and creates a rare disease condition.

There was an American pediatrician by the name of Jon Morton Aase and the disease has been named after him. Then it was David Weyhe Smith who gave it a character in the year 1968.

The symptoms of the Aase Syndrome disease are very gradual and slow. The skin gets pale and the growth is mild and slow. There is a gradual closure of soft spots or fontanelles. The shoulders get narrow and the jointed thumbs get triple. The knuckles are absent and the skin creases are seen at the joints of the fingers. The person generally has an inability to fully extend the joints from birth. These are called congenital contractures. The person has a cleft palate and the ears are deformed. The eyelids get droopy.

Tests that are taken

A complete blood count is taken and this would reveal that the person is anemic and also shows a decrease in the white blood cell count.

An echo cardiogram is taken and this would reveal heart defects. The ventricular septal defect is the most common. The x-rays show a lot of skeletal abnormalities that are described above. A biopsy of bone marrow also would be performed.

Treatment

There are many blood transfusions that are given in the first year to treat the anemia. Prednisone is a medicine that is given but this should be avoided during infancy as there are lot of side effects on the growth and also in the development of the brain. Sometimes the person might need transplant of the bone marrow if the treatment fails.

Prognosis

This anemia normally gets resolved over the period of time. There are a lot of complications that are related to anemia and this includes fatigue, weakness and also decreased oxygenation of the blood. The white blood cells decrease and also alter the body’s capacity to fight infection. There are chances that there could be a heart defect, and this could cause a lot of complications which depend on the specific defect. In some severe cases, there are many cases that are associated with early death or still birth.

Prevention

With most genetic disease, there is no way to prevent the whole disease. These infections are treated in childhood and there is lot of recognition given to it. There are lot of complications of the count of white blood cells which may be limited.

Aase syndrome causes are never known and they are never with a known reason. They are normally passed down from families and are normally inherited. Some of the cases have been seen to be inherited as being autosomal dominant and some are autosomal recessive traiting.

Aase syndrome is a condition that is seen to affect most of the women and is very unpredictable. This seemingly inherited disease is a very rare disease and is found to affect women who have a low hemoglobin count.

Approximately 0.3% to 2 % of pregnant females suffer from this problem. The word Hyperemesis Gravidarum comes from the Greek word hyper which means excessive and emesis which means vomiting. Gravida comes from the Latin word which means pregnant. So the term Hyperemesis Gravidarum means vomiting in pregnancy.

Causes of Hyperemesis Gravidarum

The cause of this rare pregnancy problem is still unknown. Some theories hold that the pregnant women undergo a lot of hormonal changes. Hyperemesis is related to an adverse reaction to the hormonal level in the woman. In particular Hyperemesis is traced to the levels of beta HCG hormones or the beta Human Chorionic gonadotrophin hormone in the body. It is said that an increased Beta HCG results in Hyperemesis Gravidarum.

It is more common in cases where there are multiple pregnancies, and also where there is a gestational trophoblastic disease. So this theory also covers the doubt and the query as to why Hyperemesis Gravidarum is normally found in the first trimester that is during the 8th to the 12th week of gestational pregnancy. HCG levels are highest during this time and then later get reduced. Estrogen is said to produce a lot of regurgitation feeling and also nausea. This is due to the acids in the stomach. Another theory holds that the leptin levels could lead to Hyperemesis Gravidarum. Another angle to the cause of this rare pregnancy problem is the genetic component.

Symptoms of Hyperemesis Gravidarum

Sometimes the pregnant woman aggravates her morning sickness problem by remaining hungry, or by getting fatigued or sometimes the prenatal vitamins containing iron also give her the problem. Besides the morning sickness can also be increase by diet changes and odours.

Under these conditions the symptoms of Hyperemesis Gravidarum remain hidden as it is difficult to find out if the normal morning sickness has got aggravated or whether it is the onset of Hyperemesis Gravidarum.

Yet we can conclude say that when the Hyperemesis Gravidarum is serious then it could result in the following symptoms :

• There is a sudden substantial reduction of body weight as compared to the pre pregnancy weight. This weight loss could be around 5%.
• The pregnant woman has a lot of constipation and also sometimes suffers from ketosis.
• There are nutritional deficiencies in the woman.
• The pregnant woman faces a lot of metabolic imbalances.
• A visible change in the taste of the individual is noticed during the onset of Hyperemesis Gravidarum.

• The brain is very sensitive to motion.
• The stomach seems to be full. The food leaves the stomach at a slower rate.
• Pregnancy has a lot of hormonal changes ,but during Hyperemesis Gravidarum, the change is even more.
• There is a feeling that the food and the contents in the stomach move back and forth in the stomach.
• There is a lot of emotional and physical stress on the body.

• Sometimes there are broken blood vessels in the eyes .  This is called subconjunctival hemorrhage.
• The woman has a lot of difficulty with daily routine.
• The pregnant woman hallucinates.

There are many women with Hyperemesis Gravidarum who lose as much as around 30% of their weight. Many are sensitive to odours too. This is called hyper olfaction. If the woman feels very nauseatic then it is called hyper salivation.

Hyperemesis Gravidarum normally occurs in early pregnancy and remains for a long time. while most pregnant women are relieved from their morning sickness stress, most women suffering from Hyperemesis Gravidarum would rarely feel this relief.

This autoimmune diseases is found to attack the thyroid. This small gland in the neck region in human beings is called the thyroid and is responsible for the T3 and T4 hormones that regulate the utilization of the energy in our body. The thyroid hormones are managed by the pituitary gland. This small gland in the human brain is the one that stimulates the thyroid hormone TSH and accelerates the process of thyroid making in the body.

In Grave’s disease, the immune system creates antibodies that give the impression of being TSH but in fact are not. Thus the thyroid hormone is produced more and this is called hyperthyroidism. This overactive thyroid activity in the body leads to other side effects like an increased heart rate, and an increased metabolism. Grave’s Disease is also related to the other disease affecting the thyroid gland – the Hashimoto’s Disease.

Grave’s disease inflicted people have trouble sleeping, a large goiter, a lot of irritability, increased sweat, a rapid heartbeat, tremors in the hand, incessant bowel moments, fatigue , weight loss and a lesser pattern of periods.

Sometimes Grave’s Disease also results in eye changes. The tissue behind the eyes gets swollen, and causes a lot of discomfort in both the eyes. Normally such eye problems are not seen in people having normal thyroid functions.

Grave’s Disease also causes a lot of reddening and thickening of the skins on areas like the feet and the shins. The disease is normally not serious and is always painless.

Symptoms

The Grave’s Disease symptoms are seen very gradually or sometimes suddenly. Sometimes people with the Grave’s Disease never show any symptoms at all.

Grave’s disease is found to affect women more than men. It normally starts after the age of 30. Normally family members who have had thyroid lead the other females in the family to contract the same. Grave’s Disease patients sometimes also get problems such as Vitiligo,rheumatoid arthritis which is a disease affecting the joints, Addison’s disease which affects the adrenal glands, and Type 1 diabetes which causes the blood sugar levels to be very high. Pernicious which is a disease that does not allow your body to absorb vitamin B12 and lupus a disease that spoils the skin, joints and the blood vessels?

Causes

Grave’s Disease is mainly caused due to genes, gender, stress, pregnancy and infection. Whatever the cause be it is seen that these can be identified and attended to. In fact, these days researchers are working to discover how the genes are involved and in what way we could cure them.

Treatment

When diagnoised out through the thyroid tests that you are a victim of Grave’s disease then it is better to go to the doctor and get yourself examined well and then increase the capacity to fight this disease.

Tests

Normally the tests taken for Grave’s Disease are the thyroid function tests, the radioactive iodine tests ad the Antibody tests.

The thyroid function tests ensures that a blood sample is tested for the amount of thyroid hormone in the body. This level T4 and the TSH become very important. So a very high thyroid level and a low level of TSH is a sign of overactive thyroid.

Radioactive iodine uptake or an RAIU tells us how much iodine is used by the thyroid gland. The higher the thyroid takes it shows that there is Grave’s disease in the patient.

The antibody test is to search for Grave’s disease related antibodies.

Treatment

Grave’s disease is then accordingly treated with antithyroid medicine, radioactive iodine, surgery and by making the patient aware of what he has to do.

Grave’s disease is one of the rare diseases found in women more and is not incurable or worrisome.

Vanishing twin syndrome

Vanishing twin syndrome might result in pelvic pain and abdominal cramps. Cramping is an extremely uncomfortable condition for pregnant women mainly because it is also one of the primary signs of miscarriage. Pregnant women experiencing abdominal cramps must report it to her supervising physician immediately. Vanishing twin syndrome can also be indicated by vaginal bleeding. Pregnant women suffering from this rare disorder can find small amount of blood in the toilet paper used by her or in the underwear. This symptom should also be reported to the doctor for ensuring that it is not signifying any major pregnancy complication.

Preterm delivery is also a common complication of vanishing twin syndrome. Around 7% of pregnant women diagnosed with the disorder give birth to the surviving baby prior to 28 weeks of gestation. On the contrary, only around 1% of the healthy mothers experience preterm delivery.  Increased rate of preterm delivery also increases the chances of developmental problems and cognitive deficits in babies of women having vanishing twin syndrome. Some clinical studies have also revealed that the surviving baby might develop cerebral palsy; the risk is higher if the vanishing of the twin occurs in the 2nd or 3rd trimester. Another complication associated with vanishing twin syndrome is low birth weight of the surviving babies. A study has shown that 1/3 of the pregnant women experiencing this rare syndrome give birth to babies having low birth weight.

Women who sweat a lot are the most vulnerable candidate for the same. It is for the same reason that this infection is commonly found among those who are habitual to wearing body hugging clothes especially tight synthetic made underwear. Furthermore, those women who are accustomed to sharing one common bathroom with a number of other guests or owners are also prone to catching this infection of and on.

Jock itch also known as the ringworm of the groin is an infection caused by the spread of fungus. The infection may become extremely itchy accompanied by a burning sensation sometimes. It may manifest in the form of raised red colored lesions or plaques in the form of blisters, pimples, oozes and more in areas like groin, inner thighs, and vagina. The further spread of these symptoms can be easily inhibited and cured by the application of special antifungal creams on the infected areas. These creams are easily available over the counter, without the need for any prescription. This cream should be applied with clean and dried hands for at least three times a day. Furthermore, in case, the symptoms fail to eliminate with the regular application of these creams, one must start the dosage of potent anti-fungal or anti-bacterial medicines along with the topical creams for a speedy relief. Some of the most popular antifungal medicines available over the counter are Terbinafine, Naftifine, Miconazole, Clotrimazole etc.

Apart from OTC medicines, there are many medicines designed for the elimination of fungal growth available through doctor’s prescription. Some examples of such medicines are Itraconazole, Fluconazole, Terbinafine and much more.

Usually, these medical conditions associated with MCTD do not appear together. This makes the diagnosis of the condition even tougher.  Majority of the patients suffering from MCTD first get diagnosed to have lupus. Then, with the progression of the disease, signs of other connective tissue disorders start appearing.

Mixed connective tissue disorder is an extremely uncommon medical condition; however, the frequency of this disease is more among women compared to the men. Generally, women get diagnosed with this health disorder in their twenties and thirties. There are also a few instances when children develop MCTD.

The most common symptoms of MCTD include:

• Joint swelling
• Mild fever
• Fatigue
• Muscle aches
• Malaise (a feeling of not being fit)
• Puffy fingers and swollen hands
• Raynaud’s disease, a condition marked by spasms in the blood vessels resulting in interruption of flow of blood to body parts like nose, ears, toes and fingers.

Raynaud’s disease mostly occurs before any other symptom of MCTD appears. Raynaud’s disease might affect major organs and tissues of a patient’s body, which include lungs, heart, kidneys, gastrointestinal tract, brain and spinal cord, blood cells, skin, muscles and joints.

When a doctor finds existence of one or more of the symptoms discussed above in the patient by conducting a thorough physical checkup, he might recommend certain diagnostic tests. Blood tests might be carried out for determining presence of certain antibodies in the patient’s blood. Presence of an antibody known as U1-RNP indicates the occurrence of MCTD.

False pregnancy (pseudocyesis) is the erroneous notion of carrying a baby when in fact the contrary is true. An individual with false pregnancy would experience several or all the prevalent pregnancy symptoms except for the presence of a real fetus. This is one of the rarest of rare condition that occurs in just 1-6 of every 22000 child deliveries and largely noted among females in the age band of twenty to 44 years of age, though it could occur at any age in women.

In atypical scenarios, even males could have pseudocyesis. Several males would experience a correlated occurrence called as sympathetic pregnancy (couvade) wherein they could start developing several of the analogous symptoms experienced by their pregnant mates – inclusive of weight increase, feeling nauseous and back pains.

False Pregnancy Causes

Pseudocyesis has been a centuries-old identified condition, however only lately have physicians been able to comprehend the emotional, mental and physical matters which are the root-reason for this condition occurring. Though the precise reasons are yet unknown, physicians doubt that emotional-mental issues could deceive the body into believing that it is pregnant.

In females bearing strong desires to conceive that might be due to recurring miscarriage, imminent menopausal phase, are infertile or longing for matrimonial bliss, their bodies could start producing several pregnancy symptoms (like abdominal swelling, breast enlargement and also sense movements of a fetus). The brain would then misinterpret these pregnancy signs and elicit prolactin, estrogen hormones release which could be causal to real pregnancy symptoms.

Several scientists have indicated that paucity, dearth of edification, infancy sexual abuse or relationship issues could don a major activating part in false pregnancy. To have a false pregnancy is not analogous to pregnancy claims for some gains (like profit-related) or being delusional about pregnancy (like in schizophrenics).

False Pregnancy Symptoms

Females with false pregnancy have several of the analogous signs and symptoms like those women with actual pregnancies. These could include:

• Stoppage in monthly period cycles.
• Abdominal swelling.
• Breast enlargement and tenderness, alterations in nipple appearance and likely milk secretion.
• Sense of fetus moving.
• Feeling nauseous and puking.
• An increase in weight.

Such symptoms could be felt from some weeks till 9 months or also years on end. A miniscule proportion of patients having pseudocyesis would even visit their physician or emergency room with feelings of labor contractions, however not delivering an infant.

Usually the contractions in the stomach cause the food to travel into the small intestine for getting digested. The vagus nerve is responsible for controlling food movement from the stomach via the digestive tract.

However, when there is damage to the vagus nerve, gastroparesis occurs, leading to major impediment in the normal functioning of the stomach and intestinal muscles. The flow of food through the digestive tract then either slows down or halts. In case the food stays in the stomach for longer spans of time, it could lead to bacterial overgrowths arising from the fermenting food. There could even be hardening of food turning into hard masses known as bezoars that makes the person nauseous and feel like puking.

Even treatments involving anti emetic s medicines and feeding tubes fail to help in such situations. However, the ground-breaking treatment involving a specialised bionic stomach pacemaker could help effectually resolve this problem. The stomach pacemaker is embedded underneath the stomach skin, with fine wiring travelling into the muscle walls of the stomach.

When the patient starts ingesting food, the gastric activity elicits the pacemaker to transmit small electric impulses to the muscle walls of the stomach leading to contractions in the gut. This assists the stomach to pass the food matter along the gut.

The operative procedure for implanting the pacemaker last for nearly an hour’s time and is conducted under general anesthesia. A 5-inch slit is done above the navel, subsequent to which further incisions are made via the fat, muscle and the stomach wall till the pacemaker (about the size of plastic money) is correctly embedded directly above the abdomen.

This is followed by electrodes being implanted into the abdominal wall in varied spots in order to facilitate easy passage of electrical impulses and effectively lead to stomach contractions.

The preliminary testing into this form of treatment were conducted in the United States, however now they are obtainable in the United Kingdom too.

The procedure costs about ten thousand pounds and has had proven success rates.