Dementia: What Are The Benefits of Genetic Tests?

AlzheimersResearch UK (February 28, 2023) – In this video, Prof Nick Fox, Director of the Dementia Research Centre at UCL (and specialist in familial Alzheimer’s disease) answers frequently asked questions about getting a genetic test for dementia.

Video timeline: 0:00 Start 0:01 #1.What is the difference between dementia risk genes and rare familial genes? 1:05 #2.Which genes are tested for? 1:45 #3.What happens in families with directly inherit dementia? 3:20 #4.What are the common misconceptions? 4:14 #5.Do I need to know which gene runs in my family? 9:50 #6.How do I get a genetic test for dementia? 11:09 #7.What if my doctor won’t refer me for the test? 11:56 #8.Will getting my results affect my life insurance or mortgage?

Having a test to look for a faulty gene that causes dementia is only appropriate for a very small number of people. This is because only around one in 100 cases of dementia are directly inherited. In these cases, there is an obvious pattern of a parent passing it on to their child (or children) throughout every generation of a family, often developing symptoms in their 40s and 50s.

Parkinson’s Disease: How PD Is Diagnosed (Video)

Parkinson’s Foundation (February 27, 2023) – Finding out you have Parkinson’s can be a lengthy process. Explore how a Parkinson’s diagnosis is made and what type of diagnostic tools are used.

Parkinson’s disease (PD)

A neurodegenerative disorder that affects predominately the dopamine-producing (“dopaminergic”) neurons in a specific area of the brain called substantia nigra.

Symptoms

Symptoms generally develop slowly over years. The progression of symptoms is often a bit different from one person to another due to the diversity of the disease. People with PD may experience:

  • Tremor, mainly at rest and described as pill rolling tremor in hands; other forms of tremor are possible
  • Slowness and paucity of movement (called bradykinesia and hypokinesia)
  • Limb stiffness (rigidity)
  • Gait and balance problems (postural instability)

In addition to movement-related (“motor”) symptoms, Parkinson’s symptoms may be unrelated to movement (“non-motor”). People with PD are often more impacted by their non-motor symptoms than motor symptoms. Examples of non-motor symptoms include: depression, anxiety, apathy, hallucinations, constipation, orthostatic hypotension, sleep disorders, loss of sense of smell, and a variety of cognitive impairments.

Auto-Immune Diseases: Guillain-Barré Syndrome

JAMA Network (February 2023) – Guillain-Barré syndrome (GBS) is a rare neurological disease that affects the peripheral nerves and causes muscle weakness.

Guillain-Barré syndrome is an autoimmune disease that affects the nerves outside the brain and spinal cord (the peripheral nerves) and develops over several days to weeks. GBS can cause severe muscle weakness, and death occurs in about 5% of patients. The most common subtypes are acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Approximately 90% of people with GBS in North America and Europe have AIDP.

Signs and Symptoms of GBS

Patients with the AIDP subtype of GBS typically have weakness that starts in the legs and spreads to the arms, as well as decreased or absent reflexes. In more than 50% of these patients, nerves that originate in the brain stem (cranial nerves) are affected, which may cause facial weakness, difficulty swallowing, and eye muscle weakness or paralysis. Approximately 25% to 30% of patients develop severe weakness or paralysis of the muscles used to breathe. GBS commonly causes symptoms of low back pain and limb numbness and tingling, and fluctuations in blood pressure or an irregular heart rhythm can also occur.

Risk Factors and Conditions Associated With GBS

GBS affects people worldwide, and the lifetime risk of GBS is estimated at 1 in 1000. Although individuals of any age can develop GBS, the incidence increases with age, and males are slightly more likely to develop GBS than females.

Approximately two-thirds of patients have a diarrheal or respiratory illness within 4 to 6 weeks prior to the onset of GBS symptoms. Other, less common events or conditions that may trigger GBS include recent surgery, pregnancy, and immunosuppression. Although rare sporadic cases of GBS have been reported after vaccinations, the risk of developing postvaccination GBS is much lower than the risk of developing GBS after an infection.

Diagnosis and Treatment of GBS

Diagnosis of GBS is made based on symptoms and physical examination findings. Neurological testing often includes electromyography and nerve conduction studies to assess nerve and muscle function. Results of a spinal tap (lumbar puncture) may support the diagnosis of GBS and can rule out other neurological diseases.

Individuals with suspected GBS should be admitted to the hospital. All patients with GBS need close monitoring of their breathing, heart rate, and blood pressure. Individuals who develop severe respiratory muscle weakness or paralysis are supported with mechanical ventilation. Patients who have difficulty swallowing may receive nutrition through a feeding tube.

Current recommended treatments for GBS are intravenous immune globulin (IVIG), an infusion of antibodies, or plasma exchange, which involves removal and replacement of the liquid component of blood. About 40% to 50% of patients with GBS do not improve within 4 weeks after IVIG or plasma exchange and need prolonged supportive care. Physical, occupational, and speech therapy are important to help patients regain strength and function.

What Is the Prognosis of GBS?

Most patients with GBS gradually improve and can have a complete recovery over 6 to 12 months. However, some patients have residual symptoms, including fatigue, pain, numbness, tingling, and muscle weakness. Some factors associated with a higher risk of death due to GBS include older age, more severe disease, and need for mechanical ventilation.

Studies: Covid-19 Lung Disease Causes & Risks

American Thoracic Society (February 24, 2023): A new American Journal of Respiratory and Critical Care Medicine study suggests that COVID-19 lung disease leads to overproduction of mucus in the distal parts of the lungs.

The study investigated airway mucus and mucins in COVID-19 autopsy lungs and showed that both were elevated due to infection, especially during subacute and chronic stages of the disease.

Read more here: https://www.atsjournals.org/doi/10.11…

REPORTS: TUFTS HEALTH & NUTRITION – MARCH 2023

Tufts Health & Nutrition Letter (March 2023):

  • Obesity is a Disease: Why, and Why It Matters
  • News Bites
  • The Health Benefits of Strength Training
  • Special Report: Optimizing Sleep
  • Tummy Trouble: When to Seek Help
  • Featured Recipe: Cabbage Roll Casserole
  • Ask Tufts Experts: Vitamin C supplements; Processed Meats

Heart Disease: Minimally Invasive Procedures (2023)

UC Davis Health (February 22, 2023) – Dr. Jeffrey Southard, a cardiologist at UC Davis Medical Center, explains minimally invasive procedures for structural heart disease, including transcatheter aortic valve replacement (TAVR), left atrial appendage occlusion, and transcatheter management of mitral and tricuspid valve disease.

Video timeline: 0:00 Introduction 0:21 Transcatheter Aortic Valve Replacement (TAVR) 4:39 Left Atrial Appendage Occlusion 7:00 Transcatheter Management of Mitral and Tricuspid Valve Disease

Health: What Are ‘Normal Body Temperatures’?

Your “normal” body temperature changes throughout your life. It often rises from childhood into adulthood before dipping during the later years of life. 

Cleveland Clinic (February 21, 2023) – But newer studies suggest the average person today actually runs a little cooler than that — somewhere between 97.5 F (36.4 C) and 97.9 F (36.6 C). 

For younger children

The typical body temperature range for children between birth and 10 years old goes from 95.9 F (35.5 C) to 99.5 F (37.5 C). This would be a temperature measured through an oral reading.

For adults and older children

The typical body temperature range for people ages 11 to 65 is 97.6 F (36.4 C) to 99.6 F (37.6 C).

For older adults

The typical body temperature range for people older than 65 is 96.4 F (35.8 C) to 98.5 F (36.9 C).

A temperature that’s higher than 100.4 F (or 38 C) is considered a fever, and it’s usually something you should bring to your doctor’s attention — especially if it lingers for more than two days, Dr. Ford says.

Oftentimes, a fever is your body’s reaction to an infection or virus (like influenza). A fever itself doesn’t require any specific treatment, other than trying to bring the temperature down for your comfort. 

Persistent low-grade or high-grade fevers could signal that something else is going on in your body. A number of medical conditions, including hyperthyroidism and other endocrine disorders, can raise your body’s core temperature.

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