Retinitis pigmentosa Retinitis pigmentosa (RP) is an inherited, degenerative eye disease that causes severe vision impairment and often blindness. The progress of RP is not consistent. Some people will exhibit symptoms from infancy, others may not notice symptoms until later in life. Generally, the later the onset, the more rapid is the deterioration in sight. Those who do not have RP have 90 degree peripheral vision, while some people who have RP have less than 90 degrees. A form of retinal dystrophy, RP is caused by abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium (RPE) of the retina leading to progressive sight loss. The effect of RP is best illustrated by comparison to a television or computer screen. Signs and symptoms Normal vision. The same view with tunnel vision from retinitis pigmentosa. People may experience one or more of the following symptoms: Associated conditions Genetics Types include: Pathophysiology
Atherosclerosis Atherosclerosis (also known as arteriosclerotic vascular disease or ASVD) is a specific form of arteriosclerosis in which an artery wall thickens as a result of the accumulation of calcium and fatty materials such as cholesterol and triglyceride. It reduces the elasticity of the artery walls and therefore allows less blood to travel through. This also increases blood pressure. It is a syndrome affecting arterial blood vessels, a chronic inflammatory response in the walls of arteries, caused largely by the accumulation of macrophages and white blood cells and promoted by low-density lipoproteins (LDL, plasma proteins that carry cholesterol and triglycerides) without adequate removal of fats and cholesterol from the macrophages by functional high-density lipoproteins (HDL) (see apoA-1 Milano). It is commonly referred to as a hardening or furring of the arteries. These complications of advanced atherosclerosis are chronic, slowly progressive and cumulative. Signs and symptoms
Fourth of July Events on Long Island 2012 Sunday, July 3 - Riverhead 5:30 p.m. Independence Day celebration on the Peconic Riverfront, Riverhead, NY. Family concert with Who Are Those Guys, followed by Brady Rymer and The Little Band That Could, and rock and roll superstars tribute band, Rock & Roll Review. Saturday, July 6, 2013 - Sag Harbor Fireworks At 9 p.m. in Sag Harbor, fireworks will soar to the sky from a barge. Sunday, July 7, 2013 - Belmont Park - Family Fun Day Bring the whole family to Family Fun Day activities in Belmont's backyard. Saturday, July 13, 2013 - Fireworks on Crescest Beach, Shelter Island If you missed the fireworks on Independence Day, you can still see those vibrant colors light up the sky at Crescent Beach on Shelter Island, NY. Sunday, July 21, 2013 - Huntington Independence Day Huntington Independence Day Reenactment on Huntington Green.This FREE event isn't exactly on the Fourth of July, but it does have relevance to Independence Day. More info: huntingtonmilitia.com.
Sickle-cell disease Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood disorder, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickling decreases the cells' flexibility and results in a risk of various life-threatening complications. This sickling occurs because of a mutation in the haemoglobin gene. Individuals with one copy of the mutant gene display both normal and abnormal haemoglobin. This is an example of codominance. Life expectancy is shortened. Sickle-cell anaemia is a form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. The term disease is applied because the inherited abnormality causes a pathological condition that can lead to death and severe complications. Signs and symptoms Sickle cells in human blood: both normal red blood cells and sickle-shaped cells are present Normal blood cells next to a sickle-blood cell. Sickle cell crisis Vaso-occlusive crisis
Progressive supranuclear palsy Progressive supranuclear palsy (PSP) (or the Steele-Richardson-Olszewski syndrome, after the Canadian physicians who described it in 1963) is a degenerative disease involving the gradual deterioration and death of specific volumes of the brain. Males and females are affected approximately equally and there is no racial, geographical or occupational predilection. Approximately 6 people per 100,000 population have PSP. It has been described as a tauopathy. Symptoms and signs This patient presented with progressive dementia, ataxia and incontinence. The initial symptoms in two-thirds of cases are loss of balance, lunging forward when mobilizing, fast walking, bumping into objects or people, and falls. Other common early symptoms are changes in personality, general slowing of movement, and visual symptoms. Cardinal manifestations: Prognosis There is currently no effective treatment or cure for PSP, although some of the symptoms can respond to nonspecific measures.
Spinal muscular atrophy Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in the SMN1 gene, which encodes SMN, a protein widely expressed in all eukaryotic cells. SMN1 is apparently selectively necessary for survival of motor neurons, as diminished abundance of the protein results in death of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide muscle wasting (atrophy). Spinal muscular atrophy manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms. SMA is the most common genetic cause of infant death. Signs and symptoms The symptoms vary greatly depending on the SMA type involved, the stage of the disease and individual factors and commonly include: Causes Spinal muscular atrophy has an autosomal recessive pattern of inheritance. Diagnosis Further, for all SMA types, Types Treatment
DNA Protein Has Dual Purpose | Research in Action This Research in Action article was provided to LiveScience in partnership with the National Science Foundation. Although our cells have many different purposes, they adhere to the same general agenda — the cell cycle. Over four phases, cells grow, copy their genetic material and divide. Helping the process is a plethora of proteins, each with a specific job in the cell’s intricate reproductive process. If a protein isn’t at the right place at the right time, the resulting new cells can have mutations that get passed on and on. Disruption in cell cycle control is associated with degenerative diseases of the heart and nervous system as well as many types of cancer. The above pictures show two tales of cell division. A protein previously thought to play a role only in DNA replication, which happens earlier in the cell cycle, also helps the spindle make stable chromosome attachments during mitosis. This research was supported by the National Institutes of Health.
Epilepsy Epilepsy cannot be cured, but seizures are controllable with medication in about 70% of cases. In those whose seizures do not respond to medication, surgery, neurostimulation or dietary changes may be considered. Not all cases of epilepsy are lifelong, and a substantial number of people improve to the point that medication is no longer needed. About 1% of people worldwide (65 million) have epilepsy, and nearly 80% of cases occur in developing countries. Epilepsy becomes more common as people age. In the developed world, onset of new cases occurs most frequently in infants and the elderly; in the developing world this is in older children and young adults, due to differences in the frequency of the underlying causes. Signs and symptoms A video of a seizure Someone who has bitten the tip of their tongue while having a seizure Seizures Postictal Psychosocial Causes Genetics Secondary Syndromes Mechanism Diagnosis
Bees Do It: Brain Aging Reversed | Alzheimer’s & Dementia When older honeybees take on tasks usually handled by younger bees, aging of their brains is effectively reversed, a new study finds. The discovery suggests that in humans, social intervention ought to be considered in addition to drugs as a way to treat age-related dementia. "We knew from previous research that when bees stay in the nest and take care of larvae — the bee babies — they remain mentally competent for as long as we observe them," explained Gro Amdam, who led the research at Arizona State University. “However, after a period of nursing, bees fly out gathering food and begin aging very quickly." And this aging seems to resemble that in humans. "After just two weeks, foraging bees have worn wings, hairless bodies, and more importantly, lose brain function — basically measured as the ability to learn new things," Amdam said in a statement. Amdam and colleagues wanted to find out what would happen if they "asked" the foraging bees to take care of larval babies again.
Carpal tunnel syndrome Carpal tunnel syndrome (CTS) is a median entrapment neuropathy that causes paresthesia, pain, numbness, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel. The pathophysiology is not completely understood but can be considered compression of the median nerve traveling through the carpal tunnel. It appears to be caused by a combination of genetic and environmental factors. Some of the predisposing factors include: diabetes, obesity, pregnancy, hypothyroidism, and heavy manual work or work with vibrating tools. There is, however, little clinical data to prove that lighter, repetitive tasks can cause carpal tunnel syndrome. Other disorders such as bursitis and tendinitis have been associated with repeated motions performed in the course of normal work or other activities. Conservative treatments include use of night splints and corticosteroid injection. Signs and symptoms Untreated carpal tunnel syndrome
Bullying, Child Abuse Hasten Aging in Kids | Stress & Telomere Length Children exposed to multiple instances of violence age faster on a cellular level than children without violent experiences, a new study finds. Although childhood stress has long been linked with later disease risk and health problems, the study is the first to show accelerated biological aging in childhood as a result of stress. "Those kids are 'older' than they are supposed to be," said study leader Idan Shalev, a postdoctoral researcher at Duke University. If the cellular aging isn't reversed, Shalev told LiveScience, the children would likely be at risk for premature death. Violence and stress To gauge biological aging, Shalev and his colleagues examined a portion of DNA called telomeres. Several studies have found that adults who experienced violence as children tend to have shorter telomeres than those with peaceful childhoods. To find out which was the case, he and his colleagues began a study that looked not backward, but ahead. Wear and tear
Raynaud's phenomenon In medicine, Raynaud's phenomenon /reɪˈnoʊz/ or Raynaud phenomenon is excessively reduced blood flow in response to cold or emotional stress, causing discoloration of the fingers, toes, and occasionally other areas. This condition may also cause nails to become brittle with longitudinal ridges. Named after French physician Maurice Raynaud (1834–1881), the phenomenon is believed to be the result of vasospasms that decrease blood supply to the respective regions. Raynaud's phenomenon by itself is just a sign (hypoperfusion) accompanied by a symptom (discomfort). When linked to pathogenesis, it can be part of Raynaud's disease (also known as primary Raynaud's phenomenon), where the cause is unknown, or part of Raynaud's syndrome (secondary Raynaud's phenomenon), which is a syndrome caused by a known primary disease, most commonly connective tissue disorders such as systemic lupus erythematosus. Signs and symptoms An image taken by a thermographic camera. Cause Primary
Anti-Aging Protein Extends Life Span in Mice, and Maybe Humans | Human Longevity & Sirtuin Proteins | Human Health & Longer Lives Things are looking up for aging mice and, if this research pays off, for aging humans, too. Researchers have found that a long-suspected anti-aging protein called sirtuin can make male mice live about 16 percent longer than average, the first such advance for mammals in a field that has thus far only offered the blessings of extended life span to yeast, nematodes and fruit flies. The findings, by scientists at Bar-Ilan University in Israel, appear today (Feb. 22) online in the journal Nature. Although the Israeli scientists cannot explain why female mice didn't also live longer like the males, an accompanying commentary describes the findings as bringing the field of anti-aging research to a new level of maturity. Long road to SIRT6 Sirtuin was hot news in 1999 when researchers found that a certain sirtuin called Sir2 could extend life span in yeast by 30 percent. Mammals, including humans, have seven types of sirtuins, called SIRT1 to SIRT7. Got some time? This could take years to unravel.