Archive | July 2021

QUOTE FOR FRIDAY:

“During Sarcoma Awareness Month we aim to further highlight the extraordinary challenges that sarcoma patients face and the need for more sarcoma research and better sarcoma therapies.”

Sarcoma Foundation of America SFA

QUOTE FOR WEDNESDAY:

“Moebius syndrome was originally described by German ophthalmologist Alfred Graefe in 1880, but is named for German neurologist Paul Julius Moebius, who reported features of this condition in 1888.

The incidence of Moebius syndrome is roughly 2 to 20 cases per million births. The condition occurs in all ethnicities. There is no gender bias (males and females are affected equally). At present, the etiology of Moebius syndrome is currently poorly understood, but may be due to genetic and/or environmental factors.

In very rare cases, a change in specific genes may be causative of Moebius syndrome.  Additionally, there are several other separate conditions with similarities to Moebius syndrome that have identified genetic etiologies.”

MOEBIUS syndrome foundation  (https://moebiussyndrome.org)

QUOTE FOR TUESDAY:

“Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties.”

GERD Genetic and Rare Diseases Information Center  (https://rarediseases.info.nih.gov)

QUOTE FOR THE WEEKEND:

“Yersiniosis is an infection caused most often by eating raw or undercooked pork contaminated with Yersinia enterocolitica bacteria. CDC estimates Y. enterocolitica causes almost 117,000 illnesses, 640 hospitalizations, and 35 deaths in the United States every year. Children are infected more often than adults, and the infection is more common in the winter.”

CDC

QUOTE FOR FRIDAY:

“Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.

The genes that cause hemochromatosis are inherited, but only a minority of people who have the genes ever develop serious problems. Signs and symptoms of hereditary hemochromatosis usually appear in midlife.”

MAYO CLINIC

QUOTE FOR THURSDAY:

“Mismanaged iron in the brain has been observed in autopsies of people with neurodegenerative diseases: Alzheimer’s, early onset Parkinson’s, epilepsy, multiple sclerosis, and Huntington’s disease.

Caucasians are the people most at risk for the classic type of hemochromatosis. More than one million Americans have the genes for this type. However, there are other gene combinations that result in hemochromatosis regardless of a person’s ethnicity. It is estimated that as much as or more than 16 million Americans have some degree of elevated iron and are at risk for the same diseases that occur in people with the untreated classic type: bone and joint disease, cirrhosis, liver cancer, diabetes, hypothyroidism, hypogonadism, infertility, impotence, depression, or premature death due to liver or heart failure.”

hemochromatosis.org/

Part I Hemochromatosis

Hemochromatosis is a disorder where too much iron builds up in your body. Sometimes it’s called “iron overload.”   Hemo meaning blood and chromatosis means pigmentation specifically : deposit of pigment in a normally unpigmented area or excessive pigmentation in a normally pigmented site.

Normally, your intestines absorb just the right amount of iron from the foods you eat. But in hemochromatosis, your body absorbs too much, and it has no way to get rid of it. So, your body stores the excess iron in your joints and in organs like your liver, heart, and pancreas. This damages them. If it’s not treated, hemochromatosis can make your organs stop working.

There are two types of this condition — primary and secondary.

Primary hemochromatosis is hereditary, meaning it runs in families. If you get two of the genes that cause it, one from your mother and one from your father, you’ll have a higher risk of getting the disorder.

Secondary hemochromatosis happens because of other conditions you have. These include:

  • Certain kinds of anemia
  • Liver disease
  • Getting a lot of blood transfusions
  • White people of northern European descent are more likely to get hereditary hemochromatosis. Men are 5 times more likely to get it than women.

    Symptoms

    Up to half of people who have hemochromatosis don’t get any symptoms. In men, symptoms tend to show up between ages 30 and 50. Women often don’t show signs of this condition until they’re over 50 or past menopause. That may be because they lose iron when they get their periods and give birth.

    Symptoms of hemochromatosis include:

    • Pain in your joints, especially your knuckles
    • Feeling tired
    • Unexplained weight loss
    • Skin that has a bronze or gray color – pigmentation
    • Pain in your belly
    • Loss of sex drive
    • Loss of body hair
    • Heart flutter
    • Foggy memory

    Sometimes people don’t get any symptoms of hemochromatosis until other problems arise. These may include:

    • Liver
    • Diabetes
    • Abnormal heartbeat
    • Arthritis
    • Erectile dysfunction (difficulty having a erection)

    If you take a lot of vitamin C or eat a lot of foods that contain it, you can make hemochromatosis worse. That’s because vitamin C helps your body absorb iron from food.

    White people of northern European descent are more likely to get hereditary hemochromatosis. Men are 5 times more likely to get it than women.
     

QUOTE FOR WEDNESDAY:

“The arenaviruses are a family of viruses that are usually transmitted from rodents to humans and include viruses such as lymphocytic choriomeningitis (LCM), Lassa virus, Junin virus, and Machupo virus.”

Vaccines for Biodefense and Emerging and Neglected Diseases, 2009 through ScienceDirect (sciencedirect.com)

QUOTE FOR TUESDAY:

“Stroke is the number one cause of serious adult disability in the United States. Stroke disability is devastating to the stroke patient and family, but therapies are available to help rehabilitate patients after stroke.”.

AHA

 

Stroke Rehabilitation

 

 

Stroke is the number one cause of serious adult disability in the United States. Stroke disability is devastating to the stroke patient and family, but therapies are available to help rehabilitate patients after stroke.

For most stroke patients, rehabilitation mainly involves physical therapy. The aim of physical therapy is to have the stroke patient relearn simple motor activities such as walking, sitting, standing, lying down, and the process of switching from one type of movement to another.

Rehabilitation should begin as soon as the patient stabilizes. Generally, this first stage of rehabilitation occurs in the hospital. In planning for discharge from the hospital, the patient and their family, with the support of the social workers or case manager, must determine the best place for the patient’s care. Many patients return home, but others benefit from time in a rehabilitation program to continue recovery.

Inpatient rehabilitation may be located independently or may be part of a large hospital complex. Patients usually remain in the facility for two or three weeks and participate in an intensive, coordinated rehabilitation program. These programs often include at least three hours per day of active therapy, five or six days a week. Inpatient facilities offer a full suite of medical services, including 24-hour doctor supervision and access to a full range of therapists specializing in rehabilitation after a stroke.

Another type of therapy to help patients relearn daily activities is occupational therapy. This type of therapy also involves exercise and training. Its goal is to help the stroke patient relearn everyday activities such as eating, drinking and swallowing, dressing, bathing, cooking, reading and writing, and using the toilet. Occupational therapists seek to help the patient become independent or semi-independent.

Many patients go to what is called a SNF (meaning skilled nursing facility) from the acute hospital where the pt first when to with the stroke.  The rehabilitation services available in SNFs are for patients no longer needing hospital care but who still require some nursing services and a less intensive rehabilitation program with fewer hours of required therapy participation.

These are long-term care facilities for those patients no longer needing full hospital care but who still require 24-hour access to nursing support. Rehabilitation services may be offered to individuals in these facilities as they qualify.  For some pts they go home but others possibly not depending on how independent this pt is in being safe home alone or even with family to handle assisting the pt in there activities of daily living they may need assistance with. Safety is the big factor with how independent the pt is.

Speech therapy helps stroke patients relearn language and speaking skills, or learn other forms of communication. Speech therapy is appropriate for patients who have no problems with cognition or thinking, but have problems understanding speech or written words, or problems forming speech. With time and patience, a stroke survivor should be able to regain some, and sometimes all, language and speaking abilities.