Definition

The corpus luteum is an endocrine structure that is present in women on a temporary basis (according to the menstrual cycle). As you will have the opportunity to read below, the corpus luteum is responsible for the production of progesterone, estradiol and inhibin A. In simple terms, the corpus luteum is what remains of the follicle after the ovulation period has ended.

The menstrual cycle has two main phases, meaning the follicular and the luteal one. In the follicular phase, the FSH (follicle stimulating hormone) works to stimulate the production of follicles. Each of the follicles that have been produced contains an egg. With each menstrual cycle, there is one egg that has reached maturity and can now be used for ovulation and fertilization. During the ovulation process, the egg will practically come out of the follicle. The corpus luteum is what is left of the follicle, as soon as the bursting process has occurred.

After that, the menstrual cycle enters into the luteal phase. This is named after the corpus luteum and it is the second part of the menstrual cycle. As you might have figured by now, the luteal phase starts once with the ovulation process and continues until the appearance of the actual menstruation.

Where is corpus luteum located?

The corpus luteum is located at the level of the ovarian follicle, being composed of lutein cells. It is practically like a sac that holds the matured egg, releasing it when it’s the time for ovulation.

Function of corpus luteum

One of the main functions of corpus luteum is related to the production of progesterone. This hormone is essential – it actually makes the lining of the uterus thick, guaranteeing the implantation of the embryo and sustaining what is a normal and healthy pregnancy. Even if after the pregnancy has occurred, the corpus luteum is going to continue to produce progesterone. This usually happens until the 10th week of the pregnancy, when the progesterone production will start to be handled by the placenta.

In case the released egg does not become fertilized, the corpus luteum will stop the production of progesterone and degenerate in approximately ten days. Instead of the corpus luteum, there will be the corpus albicans, which is actually a mass of fibrous scar tissue.

In case the egg has been fertilized and the implantation was a success, the body will be stimulated to secrete hCG or the human chorionic gonadotropin hormone. This is the hormone that stimulates the corpus luteum to continue the production of progesterone, contributing the maintenance of the pregnancy. After the 10th weeks of pregnancy, the placenta will take over the production of the progesterone hormone; during that period, the corpus luteum will degenerate as well, being transformed into fibrous scar tissue (this does not affect the embryo or the already growing fetus in any way). Sometimes, the function of the corpus luteum requires a little bit of support – this is known as luteal support and it refers to the administration of progestins, with the purpose of increasing the success of the implantation.

What is a corpus luteum cyst?

The corpus luteum cyst is actually an ovarian cyst, which can become ruptured during the menstrual and takes several months to disappear completely. It is important that this corpus luteum cyst usually appears in women who are in their fertile years – after menopause, such cysts are extremely rare, as the ovaries no longer release eggs for fertilization. The corpus luteum cyst contains a wide range of fluids, including blood and it may contribute to the enlargement of the respective ovary.

According to the specialists in the field, the corpus luteum cyst appears after the egg has been released from the follicle. In the majority of the cases, if the egg doesn’t get fertilized, it will shrivel and transform into fibrous tissue. However, there are certain women, in which the corpus luteum does not degenerate but rather fills up with fluids, being transformed into a cyst. The corpus luteum cyst is usually located on one side of the ovary and it does not cause any obvious symptoms, being discovered accidentally.

It is possible that the corpus luteum cyst becomes symptomatic, especially if it grows larger in size. The cysts that are over 10 cm in diameter can lead to worrying symptoms, including bleeding or severe pelvic/abdominal pain. In the majority of the cases, the pain will subside at several days after the rupture has occurred. In rare situations, the corpus luteum cyst might cause the ovary to twist, cutting the blood flow. The pain caused by ovarian torsion is genuinely intense and immediate medical intervention is necessary.

There are certain drugs that can increase the risk for the appearance of the corpus luteum cyst, especially the fertility drugs that are commonly used for the induction of ovulation. Contraceptives are known to reduce to zero the risk of developing such a cyst; on the other hand, if the contraceptive contains only progesterone, the frequency of the corpus luteum cysts is going to become increased. It is important to talk to your doctor about the types of contraceptive pills you are taking and their content.

Corpus luteum cyst during pregnancy

The corpus luteum cyst can appear during pregnancy, causing pain or tenderness to the touch. The pain might be more intense in case the corpus luteum cyst has ruptured. On the other hand, it is important to understand and remember that the corpus luteum cyst is not going to affect the growing baby in any way. In the majority of the cases, it disappears on its own, without any additional complications or problems. The only situation in which one requires surgical intervention is if the cyst causes the torsion of the ovary, cutting its blood flow. Even though it is not usually dangerous, it might be for the best to talk to your doctor about your symptoms. Based on the physical examination and imaging studies, the doctor will be able to decide whether the surgical intervention is an option for you or not.

What is costochondral separation?

The costochondral separation is a medical condition, in which one of the ribs becomes separated from the sternum. This condition usually appears after a direct impact with a blunt force.

The ribs are connected to the sternum through the costochondral joints. In the situation of costochondral separation, what happens is that the bone becomes separated from the cartilage. In the medical field, this condition is also presented as a separated rib. If someone falls on his/her side or he/she is hit, there is a very high chance that the costochondral separation is going to occur.

Symptoms

These are the most common symptoms that appear with costochondral separation:

• Pain with sudden onset – specific location: the point where the rib connects with the sternum (costochondral joint)
• The patient might also declare to having experience a popping sensation
• Due to the adrenalin rush (common in accidents resulting in impact), the pain might subside initially; however, it will become worse, as the adrenaline levels are brought down to normal
• The pain is aggravated by movement, affecting the quality of the sleep and reducing the level of activity for the patient
• Coughing or taking deep breaths can also aggravate the pain experienced by the patient
• Apart from the acute pain, the patient might experience difficult breathing
• Coughing and sneezing can also be present among the symptoms

Causes

In general, a forceful impact can lead to the costochondral separation. This condition can also occur on individuals who have fallen on their side or in those who suffer from a violent attack. In case of twisting movements that are highly violent, there is an increased risk for this problem to appear. In some individuals, a violent cough is enough to cause the costochondral separation.

Patients who have been struck with a blunt object or those who have leaned over a rigid ledge can also suffer from costochondral separation.

Diagnosis

These are the most common methods used for the diagnosis of the costochondral separation:

• Physical examination
  • Identification of potential injuries
  • Abdominal examination – injury at the level of the liver or the spleen
• Compression of the rib – performed if there is also a suspicion of fracture; if pain occurs with this maneuver, the patient might be suffering from costochondral separation
• Medical history
  • Pre-existing illnesses – chronic lung problems
  • Heavy smoking
  • Exposure to toxic environment or substances (occupational hazard)
• X-rays
  • The X-ray is recommended in order to rule out other medical problems, such as the pneumothorax, hemothorax or pulmonary contusion
  • Both frontal and lateral views are recommended, especially in elderly patients and when there is the suspicion of multiple rib fractures

Treatment for Costochondral Separation

The best way to recover from the costochondral separation is to take a break from the physical activity and get plenty of rest. The treatment might be necessary, in order to prevent the complications that can occur due to the fracturing of the dislocated rib or the appearance of the pneumothorax. Anti-inflammatory medication and analgesics might be useful in bringing the necessary pain relief. The drugs recommended above are also going to allow the patient to breathe more easily.

Ice applications might also help with the symptoms during the acute painful period. Wrap the ice in a cloth or use cold compresses in order to obtain relief from the pain. The cold applications should be maintained at the site on the injury for approximately 20 or 30 minutes, during the first two or three days after the injury. Make sure that you do not apply the ice directly to the skin, as this often leads to circulatory problems. The symptoms of costochondral separation can also be improved with the help of high volt electro stimulation and ultrasound therapy. These methods are known to reduce the intensity of the pain experienced by the patient but also to promote a faster and a more efficient healing process.

The patient might also be instructed to wear an elastic rib belt, in order to reduce the pain experienced and promote the faster healing. The rib belt should be worn between one and four days, being removed after the acute painful period has passed. The patients should be encouraged to cough and take deep breaths, despite the pain that might be elicited by such actions. The active coughing and the deep breaths can prevent the complications of costochondral separation, such as pneumonia. Hospitalization is required in patients who are older or suffer from pre-existent conditions, so as to reduce the risk of complications.

Prevention

The prevention of the costochondral separation is quite difficult, as this problem is often caused by blunt force. However, you can prevent this condition by avoiding sleeping on your stomach. You also need to avoid the activities that will cause the hyper-extension of the lumbar area. Also, avoid maintaining the same position for prolonged periods of time. Interrupt the long periods of sitting and try to stand or stretch as much as you possibly can.

Recovery time

The recovery time depends on the exact cause that has led to the costochondral separation and whether the patient follows the indications regarding the rest or not. In general, provided there are no other complications (fractured rib, pneumothorax), the patients is fully healed in approximately two or three months. Strenuous physical effort should be avoided for at least eight weeks after the injury.

In conclusion, it is important that the diagnosis of costochondral separation is correctly made. It is just as essential to identify if there are other injuries present, especially if they may cause life-threatening complications. If the patient is older or presents pre-existing conditions, the recovery time might be longer and more difficult. Regardless of the age, the patient has to follow the recommendations of the doctor, in regard to the rest and avoidance of physical activity. Otherwise, the recovery period might be even more prolonged or serious complications can arise. Wearing the elastic belt is also recommended during the recovery period, allowing for the injured areas to heal in a proper manner.

What is Megaloblastic Anemia?

Megaloblastic anemia is a medical disorder of the blood, in which the DNA synthesis is inhibited during the red cell production phase. What happens is that the red blood cells continue to grow without actually going into the secondary division phase. This process is known as mastocytosis and it leads to the appearance of red blood cells that are large and immature. These red blood cells are known as megaloblasts, hence the name of the condition. These cells are dysfunctional and they cause the symptoms of anemia, along with the presence of hypersegmented neutrophils in the peripheral blood.

Symptoms

These are the most common symptoms of megaloblastic anemia:

• Appetite loss (which ultimately leads to weight loss)
• Weakness at the level of the muscles
• State of general fatigue
• Accelerated intestinal transit (diarrhea)
• Nausea and vomiting
• Changes in the heart rhythm (tachycardia – increased heart rate)
• The tongue has a smooth surface and it is tender (condition known as glossitis, being caused by the loss of papillae)
• Tingling experienced at the level of the extremities (hands and feet)
• Numbness can also be present at the level of the extremities
• In severe cases, apart from the tachycardia, the patient also presents difficulties breathing (dyspnea) and cardiopulmonary distress
• If the bilirubin level is also increased, the patient’s skin and eye sclera can turn yellow (jaundice)
• In some patients, due to the increased synthesis of melatonin, the skin can become excessively pigmented (the hair color will become darker as well)
• Mental changes can occur as well, causing the patient to become irritable and even enter into a state of psychosis
• Other symptoms that can be present include:
  • Abnormal gait
  • Loss of balance
  • Impairment of the speech
  • The proprioceptive and sensory systems are affected as well
  • Malabsorption, with the following sub-symptoms – distension of the abdomen and steatorrhea.

Causes

Unlike other types of anemia, this condition has a gradual onset, as the defect in the DNA synthesis is often caused by a vitamin deficiency. Most often, the patient presents a deficiency of B12 vitamin or folic acid. Megaloblastic anemia might also be caused by copper deficiency or by the administration of certain medication (chemotherapy treatments, anti-microbial agents for different types of infection). Another cause of this medical problem is myelodysplasia, a type of bone marrow cancer that affects the regular production of red blood cells.

Diagnosis of Megaloblastic Anemia

Megaloblastic anemia can be identified or diagnosed through the following methods:

• Blood testing
  • Complete blood count
  • Red blood cell folate level
  • Schilling diagnostic test – evaluates the absorption of vitamin B12
  • Other initial workup includes:
    • Peripheral smear
    • Reticulocyte count – low in individuals who suffer from this type of anemia
    • Lactate dehydrogenase – severely increased in megaloblastic anemia
    • Indirect bilirubin
    • Iron and ferritin levels
• Medical history of the patient
• Examination of the patient – clinical signs
• Bone marrow aspiration
  • Confirmation of vitamin B12 deficiency diagnosis
  • Useful for ruling out other medical conditions, such as myelodysplasia
  • Can also be used to check out the levels of iron.

The differential diagnosis of megaloblastic anemia can be made with the following medical problems:

• Neoplasm
• Acute leukemia
• Liver disease
• Dysfunctions of the thyroid gland (hypothyroidism)
• Hemolytic anemia

Treatment

If the megaloblastic anemia is not caused by different medication or is not a direct result of the bone marrow cancer, then the megaloblastic anemia treatment is pretty standard. It will attempt to reduce the vitamin deficiency the patient experiences and it will consist of vitamin B12 and/or folic acid supplements. This is a chronic condition and the development is slow, so the blood transfusions are not considered as suitable megaloblastic anemia treatment (in the majority of the cases). This is because the patient has already adapted to the reduced levels of hemoglobin and the blood transfusion will not bring any positive changes.

When is the blood transfusion recommended as megaloblastic anemia treatment? The doctor might decide to use the blood transfusion as a course of treatment in patients who exhibit severe anemia symptoms, symptoms that are actually life-threatening.

Synthetic B12 vitamin is administered as megaloblastic anemia treatment in the form of intramuscular injections. The dose will be higher until the hemoglobin levels improve and then the dose will be readjusted. As this is a chronic condition, the megaloblastic anemia treatment is administered for life. If the patient suffers from hemophilia and presents an increased risk for hemorrhage, then the synthetic B12 vitamin will be administered orally. Some doctors recommended that the treatment is started with the injections and the continued with the oral administration, one the symptoms start to improve.

Folic acid can be administered orally as megaloblastic anemia treatment. Also, the patient might benefit from a diet that is rich in folic acid (green leafy vegetables). Before administering folic acid, investigations should be made to determine whether the patient suffers from vitamin B12 hypovitaminosis or not. While the folic acid will improve the symptoms of the anemia, it will not have an effect on the neurological symptoms that the B12 deficiency causes. This is why it is recommended for these two (B12 and folic acid) to be administered at the same time.
In conclusion, megaloblastic anemia is a serious condition and it should be treated as such. It is important that the symptoms of this medical problem are correctly identified, so as the adequate treatment can be recommended. As you have had the opportunity to read, the diet is also of major importance when it comes to improving the symptoms of the megaloblastic anemia. Patients are advised to make the necessary changes in their diet, including leafy greens and other healthy vegetables or fruits. Regular check-ups and blood testing is required, so as to guarantee a constant monitoring of the patient diagnosed with anemia. Based on the results of these regular check-ups, the doctor can change the treatment or stop the treatment altogether. You should not hesitate, however, to maintain the same healthy diet, even after you have finished the anemia treatment.

Definition

Plasma cell dyscrasia is a medical condition, in which the plasma cells are affected. The abnormal proliferation of the plasma cells leads to the appearance of plasma cell dyscrasia, with the monoclonal population of cells secreting immunoglobulin or fragments of immunoglobulin (these fragments are known as paraprotein or M protein). There are a wide range of medical conditions that can be classified as plasma cell dyscrasias, as you will have the opportunity to discover below.

Classification

These are the most common plasma cell dyscrasias:

• Cryoglobulinemia
  • Medical condition in which high quantities of cryoglobulins (immunoglobulins) are found in the blood
  • This condition can be found in association with multiple myeloma or Waldenström’s macroglobulinemia (type I); it is also found in patients who are infected with the hepatic virus C (type II and III)
  • Can also appear in patients who have been infected with the hepatic virus B or HIV
• Heavy chain disease
  • Form of paraproteinemia, in which the cells that produce the immunoglobulin heavy chains proliferate
  • There are four main forms – alpha chain disease (Seligman’s disease), gamma chain disease (Franklin’s disease), mu chain disease and delta chain disease
• Monoclonal gammopathy of undetermined significance
  • Medical condition, in which paraprotein is identified in the blood
  • The condition resembles with one of multiple myeloma – differences: lower levels of antibodies, lower number of plasma cells at the level of the bone marrow
  • No symptoms are present, no treatment required (regular follow-up is recommended)
• Multiple myeloma
  • Cancer of the plasma cells
  • Abnormal plasma cells accumulate at the level of the bone marrow
  • Paraproteins are also produced, affecting the health of the kidneys
  • The patients suffer from lesions at the levels of the bones, with high levels of calcium
  • The methods of diagnosis include: blood testing, examination of the bone marrow, electrophoresis of the urine and X-ray investigations (bone assessment)
  • Treatment solutions include: corticosteroids, chemotherapy, administration of proteasome inhibitors, immunomodulatory drugs (thalidomide, lenalidomide), stem cell transplants, radiation therapy
• Plasmacytoma
  • Malignant tumor of the plasma cells
  • It can affect the soft tissues or the axial skeleton
  • Three main types – solitary plasmacytoma of bone, extramedullary plasmacytoma and multiple plasmacytomas (primary or recurrent)
• Plasma cell leukemia
  • Lymphoproliferative disorder, rare type of cancer involving the plasma cells
  • Considered as one of the most aggressive types of cancer
  • The condition can appear on its own or it can derive from multiple myeloma
  • Main treatment solutions – chemotherapy and supportive care (poor survival rate)
• POEMS syndrome
  • The acronym stands for: polyneuropathy (the peripheral nerves become damaged), organomegaly (the internal organs become abnormally enlarged), endocrinopathy (the glands that produce hormones are damaged) or edema (inflammation in different tissues of the body), M-protein (one of the immunoglobulins that are abnormal), skin abnormalities (such as the excessive pigmentation or the increase hair growth on the skin)
• Primary amyloidosis (immunoglobulin light chain amyloidosis)
  • Medical condition, in which the cells that should produce antibodies do not function in an adequate manner
  • These cells produce abnormal protein fibers, which are known as light chains
  • It can affect different organs of the body, leading to organ failure in the end
• Waldenström’s macroglobulinemia
  • Type of cancer, affecting primarily the B cells
  • Lymphoproliferative disease, affecting the white cells (B) that are formed at the level of the bone marrow and the lymph nodes
  • Many of the characteristics that are encountered in this condition are also seen in those diagnosed with non-Hodgkin lymphomas.

The testing for plasma cell dyscrasia is indicated in the following situations:

• Bone pain
• Recurrent infection
• Anemia
• Lytic bone lesions

Diagnosis

The methods used for the diagnosis of plasma cell dyscrasia include:

• Laboratory testing
  • Complete blood count (CBC) – may reveal anemia, platelet disturbances (thrombocytopenia, thrombocytosis – rare), leukocytosis, plasma cells over 20% on smear (confirmation of plasma cell leukemia)
  • Electrolytes – blood urea nitrogen, calcium, lactate dehydrogenase, proteins, albumins
  • Viscosity measurement – in serum or whole blood
  • Serum protein electrophoresis
  • Urine protein electrophoresis
• Morphology and cytogenetics
  • Morphology can be used to confirm the diagnosis of multiple myeloma
  • Cytogenetics – useful in determining genetic mutations that might have caused the mutations in the first place
• Imaging studies
  • X-rays – identification of lytic lesions (common in multiple myeloma and in Waldenström’s macroglobulinemia)
  • MRI (magnetic resonance imaging), PET (positron emission tomography) or computed tomography (CT) – recommended for a better visualization of the suspected lesions

The differential diagnosis of plasma cell dyscrasia is made with the following conditions: autoimmune disorders (connective tissue disease), malignancy (metastatic bone disease, non-Hodgkin lymphoma), Paget disease, infection, rheumatoid arthritis, protein-losing disorders, chronic disease (affecting either the liver or the kidneys), genetic or metabolic disorders, deficiency of vitamin D and polymyalgia rheumatica.

In adults, the usage of sensitive electrophoretic methods has been shown to reduce the incidence of these conditions. As you have had the opportunity to read, some of these plasma cell dyscrasias can transform into cancerous conditions, leading to bone lesions (such as myelomas, for which the bone lesions are characteristic). It is quite difficult to make the difference between a benign and a malignant form, just based on the presentation. However, some of these plasma cell dyscrasias are more easily recognized, such as myeloma and plasma cell leukemia. The moment these conditions are identified, that moment the chemotherapy will be instituted (better prognosis for the patient). Some scientists have also tried to classify these medical conditions according to how urgent the chemotherapy actually is (two main types have been identified, based on this classification).

In patients who have been diagnosed with benign conditions, the follow-up is required – the clinical examination, as well as the laboratory testing can be used to estimate the risk of transformation into a malign condition. In some patients, imaging investigations, such as the MRI, may be useful in identifying early lesions of the bones (these being impossible to detect through other imaging investigations, such as the X-rays).

Extensor tendonitis is a medical condition, in which the extensor tendons of the foot become inflamed. The extensor tendons are the ones that cross the foot and allow for the toes to be straightened. The main characteristic of this condition is pain, which is felt at the top of the foot. In the causes section, you will discover that, often times, extensor tendonitis is caused by the inflammation or irritation of the extensor tendons (due to friction, compression or inadequate footwear).

In this condition, both of the extensor tendons are affected, meaning the one of the extensor hallucis longus muscle and the one of the extensor digitorum longus muscle. This condition affects the dorsiflexion movement, occurring often in those who are physically active or in professional athletes. Those who run, hike, ski, cycle or take part in the triathlon run a higher risk of developing extensor tendonitis. This condition is often confused with the stress fractures that can occur at the level of the foot. Even though one might experience intense pain, it is important to remember that this condition can be usually remedied with the help of non-invasive methods of treatment (no surgical intervention required).

Symptoms of Extensor Tendonitis

These are the most common symptoms of extensor tendonitis:

• Pain at the top of the foot
• The pain is aggravated by movement and intense physical effort (running)
• The stretching of the tendons, through the curling of the toes, can elicit a lot of pain
• Diffuse swelling is also present over the top of the foot
• The pain is reduced with the resting of the affected foot
• The patient might present tenderness to the touch or feel discomfort when wearing shoes (especially if they are ill-fitting or tight)
• Bruising might also be present at the top of the foot
• Taking part in activities that are demanding from a physical point of view might be difficult
• The pain can radiate to the other parts of the foot, such as the arch or the heel
• You might have a tender spot over the hard bones that are located at the level of the midfoot
• The pain might increase if the patient continues to perform activities that are physically-demanding
• The pain can become so intense, that it might prevent the patient from standing or walking properly (limping can occur, as the patient avoids placing weight on the respective foot).

Causes

These are the most common causes that can lead to the appearance of extensor tendonitis:

• Overuse – this is often encountered in those who are professional athletes
• Inadequate footwear – ill-fitting or tight shoes (cause pressure on the top of the foot, leading to the inflammation of the tendons)
• Change in training methods – for example, if you run uphill (outdoors on the treadmill), one is causing more stress to be placed on the extensor tendons located on top of the foot; at the same, running downhill is also a subject of stress of the extensor tendons
• Running on ice/slippery surfaces – as the person tries to maintain his/her balance, a lot of stress is placed on the extensor tendons (so as to avoid falling)
• Spending a lot of time standing (occupational hazard)
• Tying one’s shoelaces too tight
• Calf tightness (contributes to the altered biomechanics of the foot)
• Having a high foot arch (increased risk for developing such problems)
• Flat feet (the extensor tendons are under constant stress)
• Trauma or injury (for example, being in an accident or dropping something heavy on your foot)

Diagnosis

The diagnosis of the extensor tendonitis is made upon the physical examination. There is one diagnosis test that can be used in order to make the final confirmation. For this test, the doctor will require that you flex your foot in a downward direction (dorsiflexion movement). At the same time you are performing the movement, the doctor will apply resistance on top of the toes. The doctor will ask you to pull your toes upward, fighting against the resistance. If pain appears at the top of the foot or along the midfoot (where the tendon passes), it will be certain that you are suffering from extensor tendonitis. Based on the diagnosis, the doctor will be able to recommend the ideal treatment and measures that you need to take, in order to improve the symptoms of your condition.

Extensor Tendonitis Treatment

These are the most common measures and treatment solutions that you can consider for extensor tendonitis:

• Rest – you need to avoid physical movement and rest, allowing the pain to subside (if you continue to train, enduring through the pain, you will only make the condition worse)
• Ice – in order to obtain the desired pain relief, pack an ice pack in a towel and apply it to the affected area. You can maintain the ice pack for approximately 10 minutes every hour. Do not apply the ice pack directly on the skin, as you can suffer from circulatory problems (burning sensation).
• Heat – the application of heat is recommended only after the acute period has passed and the pain has subsided. Heat applications are indicated in extensor tendonitis, in order to reduce to promote a more efficient healing process.
• Wear adequate footwear – avoid wearing shoes that are ill-fitting or too tight. Choose shoes that are made from comfortable materials and make sure that you do not tie your shoes too tight. Use training shoes for physical activity, making sure that you replace them when they are worn.
• Physical therapy – in the acute phase, the physical therapist will recommend the best positions you can assume, in order to benefit from reduced pain and not inflict any more damage on your tendons. Afterwards, the physical therapy program will concentrate on passive and active stretching exercises, strengthening of the muscles and balance improvement. Calf stretches are essential for a good recovery.
• Anti-inflammatory medication – among the recommended choices, there are: ibuprofen, acetaminophen and naproxen. The doctor will decide whether you will take oral or topical anti-inflammatory medication, depending on how much pain you are experiencing.
• Corticosteroid injections – recommended only in the situation that the pain experienced is really intense. The treatment cannot be administered for prolonged periods of time, as it can lead to the weakening of the extensor tendons.
• Orthotics – the doctor might recommend that you wear shoe insoles or adapted inserts, in order to provide the necessary support for the foot and relieve the tension from the tendons.

Recovery time

Usually, the pain is the best symptom that can indicate the recovery time. In general, it is recommended that you avoid movement, for as long as you experience the pain. Depending on the cause of the extensor tendonitis, the recovery time can vary from a couple of weeks to several months. Physical therapy can reduce the recovery time and it is essential for those who are professional athletes (they can resume their physical activity faster with the help of physical therapy). If you do not have a physical activity to return to, you need to be patient and give your body the necessary time to recover from the problem.

Kabuki syndrome is a rare congenital disorder, which leads to the appearance of numerous anomalies and developmental delays. In the medical field, this condition is also known as Kabuki makeup syndrome or Niikawa-Kuroki syndrome. This syndrome affects one in thirty-two births, having been described for the first time in 1981, by two Japanese scientists (Niikawa and Kuroki, hence the other name of the syndrome). The reason why it is called Kabuki is related to the facial features that resemble the makeup that is used in Kabuki, a form of traditional Japanese theater.

Features

These are the features of Kabuki syndrome:

• Characteristic facial appearance, with long eyelids and elongated palpebral fissures
• The eyebrows are arched and broad
• The lateral third of the lower eyelid is turned up
• The nasal tip is broad and depressed
• The earlobes are large and prominent or the ears are cupped
• The palate is either high-arched or the child presents a cleft palate
• Deformation of the spine, leading to scoliosis (abnormal curvature of the spine)
• The fifth finger is smaller in size
• Fetal finger pads are persistent
• Strabismus might be present at the level of the eyes
• The teeth may be widely spaced
• Hypodontia can be encountered in certain children, as a feature of the syndrome

Is Kabuki syndrome hereditary?

Kabuki syndrome is an autosomal dominant disorder, which means that, if one inherits the mutated gene from one of the parents, he/she can suffer from the actual disease.

Symptoms

These are the most common symptoms of Kabuki syndrome:

• Characteristic facial features (see above)
• Developmental delay with intellectual disability (mild to severe)
• Seizures
• Small head size (microcephaly)
• Weak muscle tone (hypotonia)
• Rapid, involuntary movements at the level of the eye (nystagmus)
• Weak muscles at the level of the eyes (strabismus)
• Short stature
• Skeletal abnormalities – scoliosis (abnormal curvature of the spine)
• The fifth finger is shorter in size
• Hip and knee joint problems
• Cleft or high-arched palate
• Dental problems (hypodontia)
• Fetal finger pads are persistent
• Heart abnormalities (congenital heart defects)
• Frequent ear infections (otitis media)
• Hearing loss
• Early puberty
• Genitourinary abnormalities
• Gastrointestinal abnormalities – anal atresia, ptosis and strabismus
• Increased susceptibility to infections or autoimmune disorders
• Endocrinologic abnormalities

What Causes Kabuki Syndrome?

The Kabuki syndrome is, as it was already mentioned, an autosomal dominant disorder. Its primary cause is a genetic mutation, hundreds of genetic mutations being identified in patients diagnosed with the Kabuki syndrome. There are also de novo mutations, meaning that the parents do not present the respective gene. There are patients diagnosed with the Kabuki syndrome who do not present a genetic mutation, which is suggestive that further research is necessary before the exact causes of this condition can be identified.

At the moment, it is known that if a parent has the respective gene, the children has a 50% chance of being born with the Kabuki syndrome. The prenatal diagnosis for the pregnancies that present an increased risk is essential.

Treatment

Unfortunately, there are not many treatments available for Kabuki syndrome, given the fact that a lot of research is still necessary in relation to this condition. In order to be able to recommend the best treatment approach, the condition has to be diagnosed first and foremost. Psychotherapy might help the parents deal with the condition of the child. Genetic counseling has recently started to become more and more recommended, being considered a preventative treatment. Parents are informed about the possibility of the Kabuki syndrome being inherited, due to the genetic mutations that are carried from one generation to the other.

The condition can be rather managed than treated. These are the most common measures taken for the management of the Kabuki syndrome:

• Regular measuring of the growth (growth chart), plus of the height, weight and head circumference
• Administration of hormonal supplements (in case of hormonal deficiencies)
• Assessment of developmental milestones
• Physical therapy – recommended in particular for children who suffer from low muscle tone or abnormal curvature of the spine (scoliosis)
• Anti-seizure medication – the medication is recommended by the neurologist, having the purpose of reducing the duration and the frequency of the seizures (anti-epileptic treatment)
• Surgical intervention in case of congenital heart defects (followed by constant heart monitoring); prophylactic antibiotic treatment is recommended after the surgical intervention on the heart, so as to reduce the risk of secondary bacterial infections
• ORL intervention in case of cleft or high-arched palate
• Surgical intervention in case of congenital dislocation of the hip (casting)
• Immunoglobulins in case of immune deficiency (intravenous immunoglobulin infusions)
• Reduction of gastrointestinal symptoms by correct positioning after meals
• In case of severe feeding difficulties – placement of gastrostomy tube placement
• Special education – recommended for children with developmental disabilities
• Hearing devices might compensate for the hearing loss
• Dental intervention for hypodontia (prophylactic antibiotics are administered as well)

Life expectancy

There are no current studies to demonstrate the reduced life expectancy in people who have been diagnosed with the Kabuki syndrome. However, there are studies that have shown problems related to childhood obesity, leading to cardiovascular risk and diabetes (which may in turn have an impact over the life span). Weight management is important, so as not to have a negative effect on the life expectancy. Medical intervention can also reduce the risks associated with this condition, guaranteeing a normal life span for the individuals who are suffering from this syndrome. Kabuki syndrome is rarely associated with complications, so there are very few risks that can have a negative impact on the life span.

In conclusion, it is highly important that this syndrome is diagnosed as soon as it is possible. In this way, the doctors can recommend the proper treatment approaches, including the necessary surgical interventions and adaptive devices that might be necessary. The earlier the correct diagnosis will be made, the more reduced the impact of the developmental disability is going to be. Apart from that, it is for the best that the child’s development is monitored on a regular basis, with each milestone being carefully checked. The regular assessment will also allow for the identification of developmental delays and guide the parents towards special education.