Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radii) but with presence of thumbs.

Other abnormalities are often present including additional skeletal defects such as absence or underdevelopment of the other bone of the forearm (ulna), structural malformations of the heart (congenital heart defects) and kidney (renal) defects. Affected individuals may be short for their age (short stature) and have cow’s milk intolerance.

Thrombocytopenia is congenital or develop within the first few weeks to months of life. Usually, platelet counts remain low during the first two years of life; then, they increase but do not normalize. Additional recurrent manifestations include: cardiac anomalies (atrial and/or ventricular septal defect, patent foramen ovale), gastro-intestinal involvement (cow’s milk allergy, increased susceptibility to gastro-enteritis), genitourinary anomalies (kidney agenesis or malrotation, horseshoe kidney, hydronephrosis, pyelectasis). Other rare manifestations include Mayer-Rokitansky-Kuster-Hauser syndrome, rib and vertebral anomalies, Langerhans cell histiocytosis, transient leukemoid reaction, acute myeloid or lymphoblastic leukemia. Cognitive development is usually normal.

The prevalence of thrombocytopenia-absent radius (TAR) syndrome is estimated at around 1/100,000-200,000 people.

Cause of TAR-Thrombocytopenia Absent Radius Syndrome:

TAR syndrome is inherited as an autosomal recessive genetic disorder and caused by deletion and/or variants in the RBM8A gene.

TAR syndrome is caused by compound heterozygosity for a null (most often a 1q21.1 deletion including RBM8A) and a hypomorphic RBM8A allele.  It was demonstrated that Rbm8a is an essential neurogenesis regulator in embryonic cortical development.  Most people with TAR syndrome have a mutation in one copy of the RBM8A gene and a deletion of genetic material from chromosome 1 that includes the other copy of the RBM8A gene in each cell.

Diagnosing TAR-Thrombocytopenia Absent Radius Syndrome:

It has been reported that TAR syndrome can be accompanied by craniofacial, cardiac, digestive, urogenital, and psychiatric abnormalities, as well as by lactose intolerance⁽⁴⁾. The diagnosis of TAR syndrome is based on ultrasound findings and fetal blood sampling by cordocentesis to determine the number of platelets.

Suggestive Findings. Thrombocytopenia absent radius (TAR) syndrome should be suspected in individuals with: Bilateral absence of the radii with the presence of both thumbs. Thrombocytopenia, usually <50 platelets/nL (normal range: 150-400 platelets/nL)

Management and Treatment of TAR-Thrombocytopenia Absent Radius Syndrome:

There is no curative treatment for TAR syndrome. Symptomatic treatment of manifestations and prevention of complications include: early detection of thrombocytopenia, prevention of bleeding and hemorrhage, platelet transfusions in case of severe thrombocytopenia, surgical interventions if required to manage cardiac, urinary or skeletal malformations, avoidance of cow’s milk.

Prognosis of TAR-Thrombocytopenia Absent Radius Syndrome:

Prognosis is variable and mainly conditioned by the severity of thrombocytopenia and its complications (intracranial, digestive hemorrhage). Cardiac defects, renal malformations, acute complications of cow’s milk intolerance, acute leukemia can also affect the prognosis.

If a patient survives the initial 2 years of life, life expectancy is normal, MedLinePlus.com states.

Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development. The severity of skeletal problems in TAR syndrome varies among affected individuals.

“April is National Humor Month! Celebrated from April 1^st to the 30^th, National Humor Month was first set up in 1976 by Larry Wilde. Wilde is a well-known author and humorist who, according to the National Humor Month website, created National Humor Month in order to “heighten public awareness on how the joy and therapeutic value of laughter can improve health, boost morale, increase communication skills and enrich the quality of one’s life.”

Humor is a wonderful thing and while it varies from person to person the idea of it, finding something that amuses you and allowing yourself to enjoy it, doesn’t change. Indulging in laughter is a great way to enjoy things in life that make you happy and take a break from all the stress out there. Not to mention laughter has many awesome benefits to you, like helping your health. In fact, the use of humor and laughter in a therapeutic sense is also starting to become more widespread. Larry Wilde wrote about this on his website, he said that “[t]he idea of laughing and the use of humor as a tool to lift ailing spirits is growing. Scientific research now indicates that the curative power of laughter and its ability to relieve debilitating stress and burnout may indeed be one of the great medical discoveries of our times.” It has been found that laughter can cause positive, healing reactions in the body, such as; it can reduce stress and pain, strengthen the immune system, help your heart, and help relax and recharge the body.”

Bellevue University – Freeman Lozier Library (Freeman/Lozier Library)

“Infertility can feel like being dealt a bad hand, where the odds seem stacked against you and the path to building a family is uncertain #ALLinFertility honors the resilience of those facing these challenges while spotlighting the need for inclusivity, understanding, and action.  

Much like a deck of cards, family building holds countless possibilities. Each person’s journey is uniquely their own. There’s no single “right” way to create a family—there are many paths, each with its own set of challenges and rewards. Whether you experience going through fertility treatments, adoption, donor conception, fostering, or living child-free not by choice, we honor every path taken and every story you shared.

Infertility affects people from all backgrounds, identities, and communities. #ALLinFertility ensures that diverse voices and experiences are represented, advocating for equal access to family building care, regardless of ethnicity, gender, sexuality, or socioeconomic status.”

national infertility awareness week (About NIAW | Niaw Resolve)

Have a Happy Easter Weekend!

Rabbits are clean and for the most part there are very few health risks involved with sharing our lives with them. However, some people may experience problems and it is always wise to know what signs to look out for and steps to take to try and prevent any problems occurring. It should be stressed that health problems from people contracting things from rabbits are rare, and owners should not lose sleep over them!

“NewYork-Presbyterian cares for one of the world’s largest populations of patients with movement disorders, through the Center for Parkinson’s Disease and Other Movement Disorders at NewYork-Presbyterian/Columbia University Irving Medical Center and the Parkinson’s Disease and Movement Disorders Institute at NewYork-Presbyterian/Weill Cornell Medical Center.

Our neurologists are experts at diagnosing and treating all types of movement disorders, from the most common to the rarest. Our neurosurgeons are exceptionally skilled and among the most experienced in the country offering treatments such as deep brain stimulation and high-intensity focused ultrasound (HIFU) for Parkinson’s disease and other select movement disorders.

Our multidisciplinary team also includes neuropsychologists, nurses, genetic counselors, registered dietitians, and physical, occupational, and speech/swallowing therapists, along with other specialists who collaborate to ensure that each patient receives the most effective care available.”

New York Presbyterian Hospital (Movement Disorders | NewYork-Presbyterian)

Parkinson’s disease is the second most common progressive, neurodegenerative disease after Alzheimer disease. Parkinson’s disease is named after James Parkinson, a 19^th century general practitioner in London.

Parkinson’s disease is characterised by pathologic intra-neuronal α–synuclein-positive Lewy bodies and neuronal cell loss. Classically this process has been described as involving the dopaminergic cells of the substantia nigra pars compacta, later becoming more widespread in the CNS as the disease progresses. However, recently there has been a growing awareness that the disease process may involve more caudal portion of the CNS and the peripheral nervous system prior to the clinical onset of the disease.¹ Parkinson’s disease affects movement, muscle control, balance, and numerous other functions.

TREATMENTS:

MEDS: The combination of levodopa and carbidopa (Brand names Sinemet, Parcopa, Duopa^® (as a combination product containing Carbidopa, Levodopa=Rytary^® (as a combination product containing Carbidopa, Levodopa).

Levodopa and carbidopa are used to treat the symptoms of Parkinson’s disease and Parkinson’s-like symptoms that may develop after encephalitis (swelling of the brain) or injury to the nervous system caused by carbon monoxide poisoning or manganese poisoning. Parkinson’s symptoms, including tremors (shaking), stiffness, and slowness of movement, are caused by a lack of dopamine, a natural substance usually found in the brain. Levodopa is in a class of medications called central nervous system agents. It works by being converted to dopamine in the brain. Carbidopa is in a class of medications called decarboxylase inhibitors. It works by preventing levodopa from being broken down before it reaches the brain. This allows for a lower dose of levodopa, which causes less nausea and vomiting.

Medications are commonly used to increase the levels of dopamine in the brain of patients with Parkinson’s disease in an attempt to slow down the progression of the disease. Dopaminergic agents remain the principal treatments for patient with Parkinson’s disease, such as Levodopa and Dopaminergic agonist. In many patients, however, a combination of relatively resistant motor symptoms, motor complications such as dyskinesias or non-motor symptoms such as dysautonomia may lead to substantial disability in spite of dopaminergic therapy. In recent days, there has been an increasing interest in agents targeting non-motor symptoms, such as dementia and sleepiness.

As patients with Parkinson’s disease live longer and acquire additional comorbidities, addressing these non-motor symptoms has become increasingly important. Among anti-depressants, Amitriptiline and SSRI are commonly used, while Rivastigmine became the first FDA approved medication for the treatment of dementia associated with PD.

SURGERY:   Surgery for Parkinson’s disease has come a long way since it was first developed more than 50 years ago. The newest version of this surgery, deep brain stimulation (DBS), was developed in the 1990s and is now a standard treatment. Worldwide, about 30,000 people have had deep brain stimulation.

Lifestyle modifications have been shown to be effective for controlling motor symptoms in the early stages of Parkinson’s disease. The surgical treatment options available for Parkinson’s patients with severe motor symptoms are pallidotomy, thalamotomy and Deep Brain Stimulation (DBS).

The novel approaches for treatment of Parkinson’s disease that are currently under investigation include neuroprotective therapy, foetal cell transplantation, and gene therapy.

What is Deep Brain Stimulation (DBS) as a treatment?

DBS was introduced two decades ago and has gained widespread popularity as a surgical treatment for medically refractory Parkinson’s disease. DBS is a reversible procedure that has advantage over surgical lesioning (pallidotomy) and unilateral brain stimulation. DBS is comparable in efficacy to unilateral surgical lesioning⁷ while bilateral subthalamic nucleus stimulation is superior to pallidotomy. DBS is FDA approved for the treatment of medically refractory Parkinson’s disease and ET. DBS has proven its efficacy in the treatment of cardinal motor features of Parkinson’s disease such as bradykinesia, tremor and rigidity and it is unresponsive for non-motor symptoms such as cognition, speech, gait disturbance, mood and behaviour. Long-term studies have demonstrated that many of these effects last for long as long as levodopa responsiveness in maintained

During deep brain stimulation surgery, electrodes are inserted into the targeted brain region using MRI and neurophysiological mapping to ensure that they are implanted in the right place. A device called an impulse generator or IPG (similar to a pacemaker) is implanted under the collarbone to provide an electrical impulse to a part of the brain involved in motor function. Those who undergo the surgery are given a controller, which allows them to check the battery and to turn the device on or off. An IPG battery lasts for about three to five years and is relatively easy to replace under local anesthesia.

Is DBS Right for Me?

Although DBS is certainly the most important therapeutic advancement since the development of levodopa, it is not for every person with Parkinson’s. It is most effective – sometimes, dramatically so – for individuals who experience disabling tremors, wearing-off spells and medication-induced dyskinesias.

Deep brain stimulation is not a cure for Parkinson’s, and it does not slow disease progression. Like all brain surgery, deep brain stimulation surgery carries a small risk of infection, stroke, or bleeding. A small number of people with Parkinson’s have experienced cognitive decline after this surgery. That said, for many people, it can dramatically relieve some symptoms and improve quality of life. Studies show benefits lasting at least five years.

Gamma Knife radiosurgery

 Gamma Knife radiosurgery is a painless procedure that uses hundreds of highly focused radiation beams to target deep brain regions to create precise functional lesions within the brain, with no surgical incision. Gamma Knife may be a treatment option for patients with Parkinson’s tremor who are high risk for surgery due to medical conditions or advanced age.

As the nation’s leading provider of Gamma Knife procedures, UPMC has treated more than 12,000 patients with tumors, vascular malformations, pain, and other functional problems.

It is very important that a person with Parkinson’s who is thinking of treatment from meds to surgery to possiby Gamma Knife radiosurgery be well informed about the procedures and realistic in his or her expectations. This means there’s no standard treatment for the disease – the treatment for each person with Parkinson’s is based on his or her symptoms.

Advanced treatments

MRI-guided focused ultrasound (MRgFUS) is a minimally invasive treatment that has helped some people with Parkinson’s disease manage tremors. Ultrasound is guided by an MRI to the area in the brain where the tremors start. The ultrasound waves are at a very high temperature and burn areas that are contributing to the tremors.

Remember Parkinson’s disease can’t be cured, but medications can help control the symptoms, often dramatically. In some more advanced cases, surgery may be advised.

Your health care provider may also recommend lifestyle changes, especially ongoing aerobic exercise.

In some cases, physical therapy that focuses on balance and stretching is important.

A speech-language pathologist may help improve speech problems.

There is always support groups for Parkinson’s Disease for patients diagnosed with it and the family involved also!

“Every six minutes there is a new diagnosis of PD, which means that in April alone nearly 7,200 people in this country will learn they have PD. These people need to know that they are not alone, and that APDA is here for them,” states Leslie A. Chambers, President and CEO, APDA.

The American Parkinson Disease Association (APDA) is a nationwide grassroots network dedicated to fighting Parkinson’s disease (PD) and works tirelessly to assist the more than one million people with PD in the United States live life to the fullest in the face of this chronic, neurological disorder. Founded in 1961, APDA has raised and invested more than $252 million to provide outstanding patient services and educational programs, elevate public awareness about the disease, and support research designed to unlock the mysteries of PD and end this disease.”

American Parkinson Disease Foundation

(https://www.apdaparkinson.org/article/american-parkinson-disease-association-to-celebrate-the-power-of-a-supportive-community-during-parkinsons-disease-awareness-month/)

“Parkinson’s Awareness Month is the perfect time to brush up on your Parkinson’s facts. Here are 5 fast facts about PD:

1. Nearly 90,000 people in the U.S. are diagnosed with Parkinson’s each year.
2. Scientists believe a combination of environmental and genetic factors cause PD.
3. People with Parkinson’s experience both movement and non-movement related symptoms.
4. Symptoms can be managed through treatments like medications, lifestyle changes, exercise and in some cases, surgery.
5. Early-onset Parkinson’s disease occurs in people younger than 50 years of age.”

Parkinson’s Foundation (Parkinson’s Awareness Month | Parkinson’s Foundation)

“A risk factor is anything that increases your chance of getting a disease such as cancer. Different cancers have different risk factors. For example, exposing skin to strong sunlight is a risk factor for skin cancer. Smoking is a risk factor for many cancers. But having a risk factor, or even several, does not mean that you will get the disease.

Several risk factors can increase your chance of developing cervical cancer. People without any of these risk factors rarely develop cervical cancer. Although these risk factors can increase the odds of developing cervical cancer, many with these risks do not develop this disease.

When you think about risk factors, it helps to focus on those you can change or avoid (like smoking or human papillomavirus infection), rather than those you cannot (such as your age and family history). However, it is still important to know about risk factors that cannot be changed, because it’s even more important for those who have these factors to get regular screening tests to find cervical cancer early.”

American Cancer Society (Cervical Cancer Risk Factors | Risk Factors for Cervical Cancer | American Cancer Society)