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Worcester Medical Malpractice Law Blog

The treatment of rare diseases

Some residents of Massachusetts may be among the 25 to 30 million Americans who have a rare disease. In the U.S., any disease that affects less than 200,000 people is considered "rare." There are about 6,000 known rare diseases in the world, and the diagnosis and treatment of these conditions can be difficult.

In order to find effective treatments for rare diseases, new drugs are constantly being developed. Orphan drugs, which are medicines that are not yet being commercially developed but are in testing, are often the best hope for treating rare diseases. Since the Orphan Drug Act was passed in the U. S. in 1983, the FDA has approved more than 500 drugs that were classified as orphan drugs.

What is Ehlers-Danlos Syndrome?

Massachusetts readers may have a little-known connective tissue disorder and not even realize it. The condition, Ehlers-Danlos syndrome, could affect as many as one in every 500 Americans, but it is frequently misdiagnosed, leading to ineffective treatments and chronic health issues.

Ehlers-Danlos Syndrome is a heritable group of genetic connective tissue conditions that change the way the body produces and processes collagen. Collagen, which makes up around 30 percent of the body, is found in skin, bones, ligaments, tendons, blood vessels, cartilage, muscles and even the brain. Symptoms of the syndrome, which may seem random, include stretchy skin, overly flexible joints and wounds that are slow to heal.

Protein could lead to more accurate mesothelioma diagnoses

Researchers have identified a protein that could help oncologists differentiate mesothelioma from lung cancer. The breakthrough, which was published in the journal Oncotarget in July, could lead to faster diagnoses and better treatments for mesothelioma patients in Massachusetts and nationwide.

A research team at the University of Hawaii Cancer Center discovered that people who lack a protein known as BAP1 are more likely to develop malignant mesothelioma. For the study, the scientists analyzed 45 non-small cell lung cancer samples and 35 pleural mesothelioma samples. All 45 lung cancer samples tested positive for normal BAP1 expression, but more than half of the mesothelioma samples did not have BAP1. The discovery is expected to accelerate the diagnostic process for the disease and reduce cases of misdiagnosis.

Studies look at misdiagnosed Alzheimer's cases

Massachusetts residents might wish to know about the studies that could reduce misdiagnosis in people with Alzheimer's. One study conducted by the Mayo Clinic found that men tend to be misdiagnosed more than women.

This study looked at more than 1,600 brains of Alzheimer's patients who were between the ages of 37-102. Women tended to develop the disease in their 70s and onward while men had more aggressive forms of Alzheimer's that began in their 60s. Men are more often misdiagnosed because their symptoms involve different areas of the brain. Men frequently experience behavioral changes, motor control problems or language difficulty in addition to the typical memory loss symptoms.

Painful bladder syndrome often misdiagnosed

Interstitial cystitis, also known as painful bladder syndrome, is a condition that affects many Massachusetts patients. People with this condition experience pain in their pelvis as well as the frequent urge to urinate both day and night. The condition affects both men and women, but it is more common in women.

Because there is little known about interstitial cystitis, patients with this condition are often misdiagnosed when they visit the doctor and explain their symptoms. Patients with interstitial cystitis may be told that they have an overactive bladder or an infection in their urinary tract. After patients with interstitial cystitis are misdiagnosed and given the wrong medications, they are sometimes told that their continued symptoms are all in their head.

Limiting liver damage in Massachusetts

Roughly 33 percent of Americans are currently obese, and that number is expected to increase to 50 percent by 2030. Those who are obese or have type 2 diabetes may be more susceptible to a liver condition called Nonalcoholic Fatty Liver Disease. If left untreated, it could progress to become Nonalcoholic Steatohepatitis (NASH), which could cause scarring similar to cirrhosis, cancer or even death.

It is believed that 10 percent of all humans have NASH while six million Americans have Nonalcoholic Fatty Liver Disease. As obesity rates rise, it is expected that the number of people with NASH will rise as well. It is labeled as a silent killer because people can have the condition for years or decades with no symptoms or indications of its presence in blood tests. The condition is currently managed only through changes in diet and exercise, but clinical trials are investigating possible new treatment options.

Commonly misdiagnosed conditions

No matter how common an illness may be, it may be still be difficult to correctly diagnose it. This is because many conditions may have symptoms that mimic those of other illnesses. In some cases, eliminating possibilities through symptom elimination may result in a lengthy wait before a Massachusetts patient knows what he or she has. For instance, it can take up to 10 years for someone to be diagnosed with Celiac disease.

Those who have Celiac generally cannot eat gluten products as it can cause severe bloating, gas and even weight loss. Individuals who are not properly diagnosed with the condition in a timely manner may suffer damage to the intestine that cannot be reversed and that could prove fatal in some cases. Lyme disease is another condition that often gets misdiagnosed because it mimics symptoms of ALS and fibromyalgia. Those who experience mood changes, insomnia or joint pain in addition to a small rash on the body may want to get tested for it.

Tracking the errors of orthopedic surgeons in Massachusetts

According to a study conducted by John Hopkins University School of Medicine, using checklists to evaluate the operating skills of orthopedic surgeon trainees as they practice on cadavers is more effective when combined with a method for noting errors. This allows for the assessment of technical skills and the quality of work as well. In addition, it provides an environment where the trainees can learn from their mistakes and avoid errors on patients.

Surgical procedures performed on the shoulder were used as test cases for the research. In addition to using a standard checklist called the Objective Structured Assessment of Technical Skills, the Global Rating Scale was used to determine whether the trainee exhibited an understanding of the procedure, and a pass/fail system was established for egregious mistakes. The researchers discovered that objective measurements of the trainees' performances were obtained from the first two assessments and that the pass/fail system provided criticism for the trainees. However, what all three of the assessments failed to do was catch the numerous occurrences of damage to veins and nerves.

MRI positioning may affect outcomes in breast cancer surgery

A woman facing breast cancer surgery might go through a magnetic resonance imaging procedure to help surgeons in planning for the removal of a lump. However, a small study at a Boston hospital has shown that MRI positioning could significantly influence the results of the test.

In many cases, a pre-surgery MRI of the breasts is conducted while the patient is face down. One of the research findings related to face-down imaging is that a scan may reflect serious deformity of the breasts as well as inaccurate tumor positioning. This can result in inadequate tumor removal. Those who use face-down positioning suggest that the results tend to be consistent both before and after surgery. However, this option can also cause a tumor to be displaced during the imaging.

Emergency room mistakes can be fatal

Most people who visit an emergency room in a Massachusetts hospital expect a timely diagnosis and an appropriate treatment regimen for their condition. Unfortunately, mistakes that are made by ER staff often result in a misdiagnosis and failure to treat potentially life-threatening conditions. When negligent errors are made during a medical emergency, a patient could die or sustain further complications that lead to a permanent disability.

Medical emergencies like a stroke, a heart attack or an aneurysm can be fatal if they are not diagnosed in a timely manner. The misdiagnosis of mental health emergencies can also have fatal consequences if a patient commits suicide after being released from hospitalization prematurely. Some emergency room errors can cause permanent brain damage in patients.

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