Achalasia
BACKGROUND:
In 1672, Sir Thomas Willis described Achalasia. In 1881, the term "cardio spasm" was introduced by Von Mikulicz to indicate that the symptoms were caused by a functional rather than a mechanical failure. Hurt and Rake discovered that the condition was caused by the lower esophageal sphincter's (LES) failure to relax in 1929. They coined the name "Achalasia," which translates to "inability to relax."
OVERVIEW:
Achalasia is a rare disease of esophageal condition that affects the tube that transports food from the mouth to the stomach. It is characterized by an inability to force food down toward the stomach (peristalsis) as well as a failure of the lower esophageal sphincter (LES), a ring-shaped muscle at the bottom of the esophagus, to relax. Food is moved through the tube by the constriction and relaxation of the sphincter.
SYMPTOMS:
● Dysphagia, or difficulty swallowing, is common in people with achalasia, and they may feel as though food is stuck in their esophagus. Dysphagia can make you cough and increase your chances of inhaling and choking on food.
● Other signs and symptoms maybe:
●
chest pain
or discomfort unexplained weight loss heartburn
●
After
eating, you may experience severe agony or discomfort, as well as a dry mouth
and eyes.
● Regurgitation or backflow may also be present. Other gastrointestinal diseases, such as acid reflux, might cause these symptoms. In fact, persons with achalasia are frequently misdiagnosed as having gastroesophageal reflux illness (GERD).
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CAUSES:
The specific cause of achalasia remains unknown. According to researchers, it could be caused by a loss of nerve cells in the esophagus. There are a few theories as to why this happens, but viral infection or autoimmune reactions have been suggested. Achalasia can be caused by an inherited genetic condition or infection in rare cases.
DIAGNOSIS:
Because its symptoms are similar to those of other digestive illnesses, achalasia is often missed or misunderstood. Your doctor will most likely offer the following tests to check for achalasia:
● Manometers of the esophagus:
The rhythmic muscle contractions in your esophagus while swallowing, the coordination and force exerted by the esophageal muscles, and how well your lower esophageal sphincter relaxes or opens during a swallow are all measured in this test. When it comes to determining the type of motility problem you have, this test is the most useful.
● X- rays of the upper gastrointestinal tract (esophagram):
X-rays are taken after drinking a powdery substance that coats and fills the interior lining of your digestive tract. Your doctor can see a silhouette of your esophagus, stomach, and upper intestine thanks to the film. You may also be asked to take a barium pill, which can assist in revealing an esophageal blockage.
● Endoscopy of the upper intestine:
Your doctor will insert a thin, flexible tube with a light and a camera (endoscope) into your throat to inspect the inside of your esophagus and stomach. If your symptoms or the outcomes of a barium study point to a partial blockage of the esophagus, endoscopy can be performed to diagnose it. Endoscopy can also be performed to obtain a tissue sample (biopsy) for testing for reflux issues such as Barrett's esophagus.
TREATMENT:
●
The purpose
of achalasia treatment is to clear impediments produced by the lower esophageal
sphincter muscle's failure to relax.
●
This can be
accomplished through the use of medications, extending the cross-section of the
sphincter muscle (manual dilatation), or surgery.
●
People with
achalasia may recover from the drugs isosorbide (a long-acting nitrate) or
nifedipine (a calcium channel blocker).
●
Around 70%
of occurrences of achalasia can be adequately treated by enlarging the lower
esophageal sphincter muscle with a surgery called pneumatic balloon dilation.
●
For many
people, many dilations may be required to alleviate symptoms.
● Surgical treatment for achalasia is beneficial in approximately 85-90 percent of cases. The muscular fibers in the lower esophageal sphincter are severed during these procedures (laparoscopic Heller myotomy or paroral endoscopic myotomy). After this surgical procedure, about 15% of people with achalasia have symptoms of gastroesophageal reflux.
Stoneman Syndrome
OVERVIEW:
Stone man syndrome, also known as fibrodysplasia ossificans progressive (FOP), is a profoundly debilitating and catastrophic-inherited connective tissue illness characterized by a congenital deformity of the great toes, thumbs, and vertebrae, as well as progressive ossification of striated muscles. Airway management is difficult in these individuals due to an increasing fusion of the axial and appendicular skeletons, temporomandibular joint (TMJ) ankyloses, concomitant restrictive lung illness, and sensitivity to even little oral trauma.
FREQUENCY:
1 case in 2 million people
SYMPTOMS:
The disease progresses from the neck to the shoulders, then down the body to the lower extremities, and lastly to the legs. Because the illness affects the joints, it will become progressively difficult to move around. The patient has difficulty opening his mouth, which makes eating and speaking difficult.
CAUSES:
The autosomal dominant inheritance pattern can be inherited from either parent. FOP is caused by a mutation in the activating receptor 1a/activating kinase 2 (ACVR1/ALK2) gene. The majority of instances, however, occur infrequently as a result of new mutations. It causes ectopic osseous growth in muscles and connective tissues, as well as episodic flare-ups and mobility restrictions in the affected regions.
TREATMENT:
FOP has no effective therapy or preventative measures. The hyperactive ACVR1/ALK2 signaling pathway, which specifically suppresses heterotopic ossification, is being studied. FOP is currently managed mostly as a supportive disease, with a focus on early identification and avoiding injury or iatrogenic harm, symptomatic alleviation in cases of painful flare-ups, and residual function modification. The role of bisphosphonates and corticosteroids in the treatment of acute exacerbations of the disease is still being studied.
Alice in Wonderland Syndrome (AIWS)
OVERVIEW:
Alice in Wonderland syndrome (AIWS) is a rare neurological illness that causes visual perception, body image, and time perception to be distorted.
SYMPTOMS:
Each person's AWS experience is unique. It's also possible that your experience will change from one episode to the next. An episode usually lasts a few minutes. Some of them can last up to a half-hour.
You may suffer one or more of the following common Trusted Source symptoms during that time:
● Migraine:
People who suffer from AWS are more likely to get migraines. AWS is thought to be an aura by some academics and doctors. This is a migraine's initial sensory symptom. Others believe AWS is a rare migraine subtype.
● Distortion of size:
The sense that your body or the materials around you are shrinking is known as micropsia. Macropsia is the sensation that your body or the objects around you are growing larger. Both of these things happen frequently during an episode of AWS.
● Distortion of perception:
Pelopsia is when you have the sensation that objects around you are growing larger or that they are closer to you than they actually are. Teleopsia is the polar opposite of this. It's the sense that objects are shrinking or moving away from you faster than they actually are.
● Distortion of time:
AWS causes some people to lose their sense of time. They may believe the time is passing more quickly or slowly than it actually is.
● Disturbance of sound:
● Every sound, even those that are normally quiet, appears loud and obtrusive.
●
The
inability to control one's limbs or to coordinate one's movements.
●
When
muscles feel as though they're acting automatically, this sensation appears. In
other words, you might feel as if you don't have control of your limbs.
● Similarly, your altered perception of reality can influence how you move or walk. You may feel uncoordinated or find it difficult to move around regularly.
CAUSES:
● Researchers believe that altered blood flow to the areas of the brain that evaluate your environment and experience visual perception is caused by aberrant electrical activity in the brain. Several factors could be causing this odd electrical activity.
● According to one study, 33 percent of those who had AWS had infections. AWS episodes were linked to head trauma and migraines in 6% of cases. However, there was no identified cause for more than half of the AWS cases.
● Migraine is thought to be the most common cause of AWS in adults, while further research is needed. Infection is thought to be the main cause of AWS in children.
● Other factors to consider are:
● Use of hallucinogenic drugs epilepsy stress cough medication.
TREATMENT:
●
AWS has no
known cure.
●
The
greatest thing you can do if you or your child is to rest and wait for the
symptoms to go better.
●
Persuade
yourself or a loved one that the symptoms aren't life-threatening.
●
Treating
the underlying cause of AWS episodes, as determined by you and your doctor, may
help you avoid an episode.
●
If you have
migraines, for example, addressing them may help you avoid them in the future.
●
Similarly,
treating an infection may help to alleviate symptoms.
● If you and your doctor feel stress is a factor, meditation and relaxation may help alleviate symptoms.
Methemoglobinemia
OVERVIEW:
Methemoglobinemia (MetHb) is a blood condition in which the body produces too much methemoglobin. Red blood cells (RBCs) contain the protein hemoglobin, which transports and distributes oxygen throughout the body. Hemoglobin in the form of methemoglobin is a kind of hemoglobin.
Methemoglobinemia is a
condition in which hemoglobin can transport oxygen but not efficiently release
it to human tissues.
SYMPTOMS:
● Methemoglobinemia is varied and depends on the kind. The following are the key pathologies:
●
Cyanosis,
which describes a bluish color of the skin, especially the lips and fingers,
●
chocolate-brown
colored blood.
● Some people refer to methemoglobinemia as "baby blue syndrome" because of cyanosis.
● The severity of symptoms worsens as met hemoglobin levels rise. These can include:
●
headache
●
Shortness
of breath
●
nausea
●
rapid heart
rate.
●
Fatigue and
lethargy
●
Confusion
or stupor
● loss of consciousness.
CAUSES:
MetHb conditions can be:
Passed down through
families (inherited or congenital).
MetHb is a type of hereditary hemoglobin that is caused by exposure to specific drugs, chemicals, or foods. Both parents transmit the first form on to their children. Typically, neither the parents nor the children have the disease. They are carriers of the disease-causing gene. It happens when an enzyme called cytochrome b5 reductase malfunctions.
MetHb can be inherited in two forms:
When RBCs are deficient
in the enzyme erythrocyte reductase, type 1 (also known as erythrocyte
reductase deficiency) arises.
When the enzyme does not work in the body, type 2 (also known as generalized reductase deficiency) arises.
Examples of MetHb situations are as follows:
●
It's been
passed down through the generations (inherited or congenital).
●
Exposure to
certain medicines, chemicals, or foods causes this condition (acquired).
● MetHb can be inherited in two forms. Both parents transmit the first form on to their children. Typically, neither the parents nor the children have the disease. They are carriers of the disease-causing gene. It happens when an enzyme called cytochrome b5 reductase malfunctions.
● Hemoglobin M illness is the second kind of hereditary MetHb. It is brought on by flaws in the hemoglobin protein. For a child to inherit the condition, just one parent must pass on the defective gene.
TREATMENT:
Methemoglobinemia can be a life-threatening condition.
● The antibiotic methylene blue is infused as the first treatment. This drug usually works rapidly to help people. Methylene blue, on the other hand, cannot be used on patients who have methemoglobinemia due to a congenital condition.
● A blood transfusion may be required if the patient does not respond to methylene blue.
● Aspirin therapy may be used to treat people with type 1 inherited methemoglobinemia.
Adult-Onset Still’s Disease
OVERVIEW:
Adult-onset Still's illness refers to the adult form of systemic juvenile idiopathic arthritis (juvenile Still's disease). The illnesses are named after Sir George Frederic Still, a British surgeon who first recorded a type of infantile arthritis accompanied by fever in the medical literature in 1896. Adults with "Still's disease" were first documented in the medical literature in 1971, but cases that meet the description of the ailment have been documented since the late 1800s. Given its rarity and the fact that symptoms may overlap with those of other disorders, AOSD may be difficult to diagnose.
SYMPTOMS:
The majority of people
with AOSD experience a combination of symptoms that are often associated with
systemic inflammatory illness. A high fever, a rash on the skin, muscle
discomfort (myalgia), joint pain (arthralgia), and inflammation are some of the
symptoms of arthritis. In some cases, the pericardium (the thin sac-like
membrane that surrounds the heart) or the heart muscle (myocardium) may become
inflamed (pericarditis or myocarditis, respectively).
●
AOSD has no
confirmed cause (idiopathic). According to researchers, the illness is thought
to be caused by a mix of hereditary traits and an aberrant or excessive
reaction to infections or other environmental exposures. AOSD is not a
hereditary condition and does not commonly run in families.
●
Certain
experts think that AOSD is thought to be an auto inflammatory condition.
Specific
● proteins that modulate the immune system (cytokines), according to researchers, may also play a role in the development of AOSD.
DIAGNOSIS:
● Because there is no screening treatment or distinguishing laboratory finding that clearly identifies AOSD from other illnesses, it is difficult to make a diagnosis. A thorough clinical evaluation, a full patient history, the identification of distinctive features, and the elimination of other potential illnesses are usually used to make an AOSD diagnosis (a diagnosis of exclusion). To aid in a diagnosis, a variety of tests may be performed, including blood tests and imaging examinations that may identify changes in the bones or joints, as well as enlargement of the spleen or liver.
● An echocardiogram, which uses sound waves to create an image of the heart, can detect pericardial or myocardial inflammation.
● Blood testing may reveal abnormalities in blood cell levels that are typically related to AOSD. Significant concentrations of white blood cells (leukocytosis) and/or platelets (thrombocytosis) or low levels of red blood cells are common in those who are affected (anemia).
TREATMENT:
Adult Still's disease is treated with a variety of medications. The type of medication you'll take is determined by the intensity of your symptoms and whether or not you're experiencing any adverse effects.
● Nonsteroidal anti-inflammatory medicines:
● NSAIDs are medications that are used to treat inflammation. Mild joint pain and inflammation can be relieved by over-the-counter NSAIDs like ibuprofen (Advil, Motrin IB, and others) or naproxen sodium (Aleve). Prescriptions are available for stronger NSAIDs. Because NSAIDs might harm the liver, you may need to have your liver function checked on a frequent basis.
● Steroids:
● Adults with Still's illness typically require steroid medication, sommunity. uch as prednisone. These potent medications relieve inflammation, but they also lower your body's resilience to infections and raise your risk of osteoporosis.
● Methotrexate:
● Methotrexate (Trexall) is frequently used in conjunction with prednisone, allowing the dose of prednisone to be lowered.
● Modifiers of biologic response:
●
Drugs
including infliximab (Remicade), adalimumab (Humira), and etanercept (Enbrel)
have shown some promise, but their long-term effectiveness remains unknown. If
prior treatments have failed, your doctor may recommend anakinra (Kineret),
tocilizumab (Actemra), or rituximab (Rituxan).
