Birt-Hogg-Dube Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).

The symptoms of Burkitt's depends on the type that the person has acquired. Endemic, which is the African form usually starts as tumors of the facial bones, commonly the jaw, it may affect the gastrointestinal tract, ovaries, and can spread to the Central Nervous System. It can cause nerve damage, paralysis, and weakness. Immunodeficiency and Sporadic, the type that is more often seen in other areas of the world but is more frequently seen in the Untied States. This type usually starts in the bowels and forms a mass in the abdomen, because of this bone marrow, the liver, and spleen are usually involved. These two forms can also start in the ovaries, testis, or other organs and will eventually spread to the brain and spinal cord fluid. Symptoms that are involved with all three variants consist of bowel problems, fatigue, loss of appetite, nausea, night sweats, unexplained fever, and weight loss.

We’ve all heard this phrase from the kids we know and love, “I’m a big boy!” Well, progeria makes this true in a sense. According to The Mayo Clinic, Progeria, an exceptionally rare disorder, also known as Hutchinson-Gilford syndrome is defined as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. Now mentally these kids are as young as their own age, but their bodies are biologically much older than they should be. These kids’ bodies show symptoms like under-weight/height, large head for the face, hair loss, high pitched voice, visible veins, and wrinkled skin. Aside from this the children experience problems that normal only senior would have such as heart disease, and Arthritis.

Birt-Hogg-Dube syndrome is a rare disorder where you have certain tumors. Most tumors appear on the face, forehead, and neck. BHD is caused by mutations in the FLCN gene. (Genetics Home Reference) BHD is also inherited from parents or the grandparents. The symptoms are, tumors on face, neck, and the forehead. (Genetics Home Reference) BHD increases the risk of getting cancer.

As an early childhood educator young children learn with all their senses.However, the implication for children with Lowe syndrome or visual impairment learn from all their other senses. In our classroom we would prepare sensory activities such as the sticky fall tree where the children place fabric leaves on contact paper. This activity provides independent and it allows the outdoors to come to them in a controlled environment. In addition, it provides the child cognitive and fine motor skills. Parents can make feel box which is made from old kleenex boxes filled with all kinds or textures. In our classroom we have sensory tables with sand and water.

Buerger’s disease is an inflammatory disorder affecting small and medium sized arteries with unknown etiology and strong association with smoking. It is a difficult disease to treat and abstinence from smoking is must to arrest the progress. Conservative treatments like vasodilators, anti- coagulants, prostaglandin therapy etc. have questionable role. Arterial reconstructive surgery is not feasible usually. Sympathectomy, though widely used works partially or not at all. Progression of the disease invariably leads to amputation. Over the years, the methods and devices have evolved and its indications have been extended to treat fractures and associated complications: nonunion, chronic osteomyelitis, shortened extremity, joint contracture, and

The prevalence of hearing loss has doubled over the past 30 years in the United States and continues to steadily incline as time goes on. Hearing loss itself encompasses a wide variety of disorders, effects many diverse populations, and is caused due to a multitude of different sources (“The Prevalence”). Its onset is also extremely variant and could happen either congenitally or at any point later on in a person’s life. One of these such congenital disorders is Waardenburg syndrome. Waardenburg syndrome is a genetic disorder characteristized by four different types of specific disorders that are further differentiated by their physical attributes and genetic causes. It’s estimated that about 1 in 40000 people are diagnosed with this disorder

Swyer Syndrome, also refered as XY gonadal dysgenesis, is a rare disorder in which sexual development is affected. Sexual development is usually determined by an individual’s chromosomes but with Swyer Syndrome that is not the case. This disorder affects 1 in 80,000 people. “Sywer Syndrome was first described in the medical literature by Dr.Swyer in 1955.” (2016). Individuals with this disease are born with 46, XY, Karyotype but have female reproductive parts. Even though these women are born without ovaries and do not produce sex hormones they can still live a normal life.

In 2010, Cocciolone et.al. suggested a connection between desmoplastic melanoma and BHD in a 58 year old patient as a result of mTOR up-regulation. There are 6 other cases of melanoma reported in patients with a BHD mutation; although quite possibly the event could be coincidental and a direct link cannot be confirmed (Cocciolone et al. 2010)(Leter et al. 2008).

As Elora progresses and continues to grow, her health must be constantly monitored. She should frequently visit an eye care professional, to ensure she does not develop other eye conditions. Visiting a healthcare professional, such as a pediatrician, will also be crucial to helping Elora maintain good health as children who suffer from aniridia can also go on to develop WAGR syndrome. WAGR syndrome is an acronym for a network of diseases that commonly occur together, this network includes Aniridia and a rare kidney cancer called Will’s tumor. Elora will have to adjust to living with her disorder as she

Reye’s syndrome is a rare life-threatening illness that mainly affects children. The illness is due to a dysfunction in mitochondrial metabolism specifically in the fatty acid oxidation process. This dysfunction leads to its classic symptoms of repetitive vomiting and altered behavior such as lethargy, confusion, irritability, or aggressiveness1. In this article a case study involving Reye’s syndrome will be discussed as well as the pathophysiology, history, etiology, epidemiology, diagnosis and treatment, prevention, and research of the syndrome.

However, FLCN expression is conserved throughout the eukaryotic system. FLCN is known to have a binding partner, folliculin interacting proteins (FNIP) 1 and 2. FLCN interaction with FNIPs provides a functional insight due to FNIP1/2 interaction with AMP-activated protein kinase (AMPK), a direct energy sensor and negative regulator of mTOR, suggesting its role in AMPK and TOR signaling. FLCN’s role in TOR signaling was strengthen by mammalian cells with reduce expression of FLCN resulted in the

I started saving money for the trip to Athens. I didn’t have had any love experiences before. I was skeptical and I was scared of love. I wanted to be sure about what I was doing. I know I had fallen in love with him, but I didn’t want to throw my heart in front of him too quickly. Everybody told you that you should never be too honest with your intentions when it comes to boys. They always said you should hide your real feelings. Now that I’m older I understood that they give you this advice so you won’t be hurt. Too much damage can break your heart. It’s no joke. It’s called the Takotsubo syndrome and it was called like this because they studied it first in Japan. The muscles of the heart weaken because of strong emotional stress. If the

The target of rapamycin (TOR) kinase has gained tremendous attention as a potential target for cancer therapy and lifespan extension. The TOR pathway is also associated with neurological disorders such as epilepsy, autism, and mental retardation. However, understanding the TOR functions in the mature nervous system has been difficult, because TOR has versatile functions by forming two distinct complexes, TORC1 and TORC2, and block of either complex in mammalian cells affects many fundamental aspects such as cell survival and brain development. The genetically tractable worm C. elegans, in which TORC2 is dispensable for survival, is an organism suited for the analysis of TOR functions. By using genetic and pharmacological approaches, here we