NF2 is a genetically determined disorder which affects one in 40,000 individuals worldwide. It is clinically distinct from NF1 and is ten times less common. Individuals with NF2 will not develop NF1, and those people born with NF1 will not progress to NF2. One of the frustrating aspects of NF2 is its variation from individual to individual. In this regard, the medical problems and the time course of NF2 may be different, even in members of the same family.. In general, most individuals with NF2 experience their first symptoms during the late teenage years or in their early 20’s. A few people develop symptoms in childhood and some do not have problems until their 40’s or 50’s.. Affected individuals develop many nervous system tumors that may require treatment. Since the tumors grow slowly, they may be present for many years before causing symptoms. For that reason, NF2 should be evaluated at least annually for tumors, hearing and cataract formation. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on this condition.
Laparoscopic biliary surgery provide several benefits to the individual over conventional open up surgery. A few of the great things about laparoscopic surgery are significantly less discomfort following the surgery because the incisions are very much smaller, quicker recovery occasions, shorter hospital stays, previous go back to full activities and far smaller scars. In addition, there might be less inner scarring when the methods are carried out with laparoscopic surgery in comparison to standard open surgery.
Laparoscopic medical procedures for the gallbladder and the bile duct
Laparoscopic gallbladder removal has been performed in a large number of patients throughout the global world and is really a very safe procedure. Gallbladder removal ought to be carried out by laparoscopic medical procedures when possible.
As opposed to laparoscopic gallbladder surgery, laparoscopic procedures on the bile duct are performed by biliary surgeons being that they are technically very difficult rarely. Because the bile duct is situated deep in the stomach the incisions for open up bile duct medical procedures are long and big incisions. These incisions are often associated with a complete lot of discomfort and require recovery amount of 4 to 12 weeks. Nearly all patients who go through open surgery stay static in hospital for 4 to 10 times after surgery in comparison to individuals who undergo laparoscopic medical procedures and stay in medical center for 1 to 3 days after surgery.
The laparoscopic procedures performed on the biliary program are:
Laparoscopic cholecystectomy: Inside this process the gall bladder is usually removed by laparoscopic techniques. The most common indications for elimination of the gall bladder for laparoscopic cholecystectomy are the existence of gallstones in the gall bladder and little benign tumors known as gallbladder polyps.
Laparoscopic typical bile duct exploration: Inside this procedure, stones inside the bile duct are removed by laparoscopic techniques. In individuals with gallstones little stones can move from the gallbladder in to the bile duct. Stones in the bile duct could cause obstruction resulting in the advancement of jaundice and pancreatitis (swelling of the pancreas). The procedure is elimination of the gallbladder.
In lots of patients a stone which has passed in to the bile duct is spontaneously excreted in to the intestine. In case a stone is situated in the bile duct during the gallbladder surgery after that additional procedures must remove the stones. Stones in the bile duct could be removed during the laparoscopic cholecystectomy by sophisticated laparoscopic techniques.
Laparoscopic bile duct bypass: In patients who've strictures (narrowing) of the bile duct, the drainage of bile in to the intestine is usually blocked and the bile accumulates inside the bloodstream causing jaundice. Bile duct strictures could be due to benign (noncancerous) or cancerous conditions.
Benign bile duct strictures are often from problems for the bile duct during an earlier laparoscopic gall bladder removal procedure. In a few patients swelling from chronic pancreatitis could cause narrowing of underneath of the bile duct. In selected patients you can expect a surgical bypass process of bile duct strictures.
Resection of choledocal cysts: Choledocal cysts develop from abnormal dilatation of the bile duct that's usually congenital inside origin. Choledocal cysts can result in the advancement to of jaundice, pancreatitis and malignancy in some individuals if left untreated for several years.
The recommended therapy is elimination of the choledochal cyst. The bile duct will be after that sutured to the intestine in order that normal passing of bile will be restored. In selected individuals you can expect a laparoscopic process of elimination of the choledocal cyst.
The list following indicates common signs of a subterranean termite infestation. It is suggested that you possess your home thoroughly inspected by way of a pest control expert trained to identify the sometimes subtle indicators of termites.
· The existence of mud-like materials that ranges the galleries within an irregular pattern.
· Termites may excavate the solid wood so that just a very thin coating of solid wood is left at first glance of the cavity and the exterior. This coating is broken then; they will cover up the holes with mud like materials, used to help make the tubes. This is a combination of soil, feces, and saliva.
· Swarmers: The looks of a swarm of what you will call "flying ants",near light sources This means that a nest could be near especially. A "swarm" is really a group of adult man and woman reproductives that keep their nest to determine a fresh colony. Swarming occurs whenever a colony reaches a particular dimension. Swarming is most typical in the springtime (March, April, Might, and June) and sometimes autumn (September and October).
· Most swarmers emerge throughout the day, most on warm times after rain frequently. Swarmers found outside near tree stumps, railroad ties, etc., aren't an indication your home is infested but can be found externally only. However, finding swarmers indoors means that you have a termite infestation in your own home often. At first glance, ants and swarmers look comparable, but could be distinguished by particular physical features. At Variations between termites and ants, there exists a list and picture of differences.
· Mud Tunnels: Subterranean termites maintain their headquarters inside the ground and develop "mud tubes", pencil-dimension, that connect the nest (moisture) to the meals source (wood).The tunnels might contain broken mud particles with fecal components. Mud shelter or tubes are proof termite infestation, but their absence will not mean that a structure is free from termites necessarily. The bugs may reach sills along with other wood users through voids or cracks in the building blocks wall, beneath the outside stucco, or from earth-filled porches, actions, terraces, or patios. It is possible to break open tubes to find out if termites are active inside still. Termites rebuild damaged tubes often, another indication of carried on exercise. Old tubes are dried out and can crumble easily.
· Subterranean termites construct 4 forms of tubes or tunnels. Functioning tubes (left) are made of nests in the soil to wooden structures; they could travel up stone or concrete foundations. Exploratory and migratory tubes (middle) occur from the soil but usually do not hook up to wood structures. Fall tubes (correct) lengthen from wooden structures back again to the soil.
· Piles of wings: The lose wings of swarmers indicate termites possess entered their following phase of development.
· Live life termites: Reproductive kings and queens are usually 1/2" long, dark and winged or brown in color. Workers are usually sterile and generally hidden within infested solid wood. They're 1/4" long, white and wingless. However, the lack of finding live life termites will not mean that they're not within the structure.
· Buckling paint or microscopic holes on the wood.
· Damaged wood: Wood can happen crushed at structural bearing factors. Termite damaged solid wood resonates with a boring thud (hollow audio)when tapped with a hammer. Pick and choose and probe the top of an infested little bit of solid wood with a pen knife and you may find tunnels operating parallel to the wood's grain.
· Obtaining termites in a new structure will not mean you possess an immediate emergency as the rate of which damage occurs will be relatively slow.
Hives, called urticaria by physicians, is among the most common factors behind skin inflammation. Around 20% of the population are affected from urticaria at least one time in their lives.
Hives are itchy, red rashes that rise and disappear completely quickly up, to be replaced by others sometimes. A few people discover that the problem recurs or lasts a lot more than 6 weeks. In this article you will find hives symptoms and treatment as well as causes of hives.
Causes of Hives
Hives appear as a new reaction to an exterior irritant that's ingested or touches the skin. In reaction to the irritant, the physical body releases chemicals such as for example histamine that cause itching and inflammation. Irritants can include food items, medications, cosmetic items, insect stings, chemicals, attacks, and medical problems, and contact with extreme heat or chilly even.
In a minority of individuals with hives, an obvious allergic link could be proven. They create rashes after eating food items, taking certain medicines, or becoming stung by an insect.
Coffee, alcohol, and tobacco are defined as triggers of acute assaults of hives rarely, but people who have problems with chronic hives report these substances make their symptoms worse often.
If you get yourself a rash from medicines or food, it may not function as primary ingredient that's evoking the problem. It may be a preservative or some other additive. For instance, if a number of different medications and foods appear to give you hives, you might be reacting to tartrazine, a colouring agent used in pills and meals frequently.
Cosmetics, soaps, perfumes, and lotions could cause reactions also. Often, this can only occur once you switch to a fresh type. This may ensure it is less difficult to identify the reason for your hives. Other typical irritants are nickel inside jewellery and inside gloves or condoms latex.
Allergic urticaria may be the true name directed at hives caused by allergies to food, insect bites, medications, or makeup. Other styles are due to physical discomfort, such as sunlight, chilly, or rubbing of your skin. While we don't contact these kinds allergic, the underlying process is a lot the same.
Hives due to sunlight (photosensitive urticaria) might not look like an allergic situation at first sight, however the evidence suggests it really is. People have become delicate to lighting after receiving the bloodstream item immunoglobulin from others with this particular rare condition.
The same will additionally apply to hives caused by winter. It appears likely that the bloodstream of people with one of these conditions carries irregular immune cells. These tissues attack when met with chemicals that are usually released in your skin by cold, sunlight, or various other external circumstance.
Dozens of infections could cause hives, including throat, belly, and genital or even urinary (genitourinary) tract attacks; fungal attacks; mononucleosis; and hepatitis. The normal cold causes hives in children. Hives aren't directly due to the infectious organism, as in chickenpox or cellulitis. Rather, they're due to "pleasant fire" from the human being body's own defences.
Other triggers frequently connected with hives include:
friction - about 5% of the population are inclined to developing pores and skin rashes after mild rubbing or scratching of your skin; this condition is named dermatographism. Repetitive scratching of the hives may worsen the problem
swimming, that may cause severe reactions fairly, probably more because of the chilly than to the drinking water
exercise, stress, and very hot showers, which cause a type of hives called cholinergic urticaria
stress from belts, straps, and elastic, causing pressure urticaria
pregnancy - hives frequently appear late in pregnancy
Chronic or recurring hives might mean you're being repeatedly subjected to a trigger, or it may be an indicator of underlying disease. Lupus, arthritis rheumatoid, and thyroid problems are diseases more likely to trigger hives to appear.
Complications and symptoms of Hives
Hives itchy are, red welts on your skin. They could join together to create one large rash or could be spread out to create several smaller types. They're often big and slightly raised. The advantage of the rash is frequently the most inflamed component, with the center being paler in color. There might be discomfort or burning of itching instead.
Acute hives usually final only 24 hours in confirmed location on your body; bouts of severe hives can last around 6 days. Chronic hives can final for a lot more than 6 days. Most cases however, last about a week.
Occasionally the rash is a lot more than skin deep. If histamine along with other inflammatory brokers are released in to the layers simply under your skin, the swelling will be more serious and itching may very well be replaced by discomfort. This problem is called angioedema.
Angioedema could cause alarming swelling inside the mucous membrane of the lips, mouth area, gut, genitals, or even throat. The swelling falls within a day usually, but very it inhibits breathing and requires crisis treatment rarely. In the event that you experience hives which are associated with dizziness, problems inhaling and exhaling, or throat swelling, obtain immediate medical attention.
First of all, thank you so much for coming. We come from California, Texas, Utah, New York, Georgia. I am not going to name them all. It would take too long. Thank you for the sacrifices you made to be here, to be away from your families, the financial sacrifices. We appreciate all that. But it's a special time, and it's a special place that we are all here. You don't have to worry about, "I can't hear" or "I stumble." I fell almost twice this weekend myself. But before we start, I want to thank some people for coming. Number one, Dr. Welling. I am going to say a few personal things. He is a great man! He is dedicated to the NF2. He does drug research. He wants our lives to be better. He cares about the quality of our lives. He is a patient- oriented physician.
I will tell one story that will prove this point a million times over. I had brain surgery in January. About a month later, I developed spinal fluid. Steve called Dr. Welling. To make a long story short, Dr. Welling, he was in Phoenix at the time. They actually admitted me to the hospital. And that afternoon, Dr. Welling walks in my room. He got off the airplane, came straight to Ohio State Hospital to see me. He didn't even go home. I know some of you are patients of Dr. Welling. We all have our own stories to tell about what a great physician he is, and caring wonderful man. t's a privilege and honor that he takes care of us the way he does. Thank you so much.
Next is Andrea Crago. She is from PRI, Professional Reporters, Inc. She makes this possible for us. We all would be staring at each other, making funny faces. She brings the world of speech, so we can take advantage of the great things we will "hear" this morning.
Dr. Welling, he got back at 1 a.m. this morning from Europe. He is with us here this morning. We appreciate that. I want to thank the volunteers that helped out this weekend. It's a big event. I couldn't have done this without this person taking over and that person taking over. Thank you for all your help.
Good morning, everyone. I have never used C.A.R.T., so I am a little nervous about that. But we are here this morning for a memorial for our crew member, Rachelle Swafford. Her love of the Crew is filling this room. As well as her understanding and her appreciation of the importance of what the Crew does. The fact that we reaped strength and Encouragement. Her love is in testimony by the presence of her family here today.
You know, we have many new Crew members here. It's marvelous to see this group! We become quickly attached in this group, for those of you who are new, because when you start any relationship, you start conversation by common ground. You find what you have in common and you begin conversation, and you become truthful with one another. That deepens your relationship.
We can never say to any member of this family, Deb, Ray, Danielle, or Bryan, that we understand how they feel. No one can ever understand how one individual feels in loss. But if there is one thing that everyone in this room has in common, we understand loss. All kinds of losses. Not just life, but abilities, socialization, possessions, friends. So we in this room have a lot in common.
There's a question that's asked many times: Is your glass half empty or half full?
Based on my knowledge and experience as someone with NF2 who has dealt with facial paralysis after the facial nerve issues during brain surgery, doesn't show any signs of healing or movement till about 4 to 6 months after the damage occurs, where everyone is different it could be longer or shorter then that but a good gauge on about what to expect and the majority of the healing that will occur will be in the first year. A few things can be a factor in how much heals.
Physical Therapy, Exercise
Food, Suppliments and Medication
Facial Animation Surgery
The facial nerve feeds smaller nerves and muscles that go to different parts of the face. When the nerve is damaged those smaller veins are not sent enough blood for the circulation which is necessary for muscles to move.
A good amount of facial paralysis can heal between physical therapy and acupuncture. In physical therapy they show you face exercises to regain movement again, I suggest chewing gum a lot as part of that and starting acupuncture as circulation starts back up again. Acupuncture helps to encourage blood to flow back to the different nerves in the face to encourage movement. Starting both within a few months after a nerve is damaged and for that entire first year is important in determining how much it will be able to help.
Some amount of nerve damage can heal after the first year, but the majority of the healing will happen in the first year. I believe food and medication choices could play a part in the percentage of healing as well. Antioxidants help encourage blood flow by helping to send more oxygen to veins while some medications that are meant to slow down cell growth could also be a factor against healing. So in effect, some chemotherapy options, supplements or foods even that might slow down cell growth in my opinion should be held off for as long as possible after surgery to give yourself enough time to heal, but you need to do what's right for you.
Facial animation is typically not a consideration till sometime after the nerve is damaged based on how much your nerves heal on their own. Talk to your doctors.
I recently had an opportunity to try out the UdiDuo System, made available by the interpreter services at NYU. I highly recommend anyone with hearing issues to try out one of these devices to determine how it might be useful to you.
- Lori Davila
This neat system is a great assistance aid for one on one communications for anyone with hearing issues including :
individuals who are new deaf and do not know any other form of communication.
a hearing person needs to communicate with someone who is deaf and does not know ASL (American Sign Language), or is too difficult to speech read.
individuals who are learning ASL. This would work well as a good instructional tool to type a word and then sign it and have added dialogue by typing as needed.
if you need to have a discussion with someone who does not know ASL or someone who cannot sign very well.
if you need to have a conversation with someone that includes to many technical words that would require the major part of the conversation too be mostly finger spelling if ASL were used.
doctor's visits where a hearing impaired person needs to understand exactly what a medical professional is saying, word for word.
a discussion with someone with speech problems.
Two connected computers, each facing opposite directions. As the person you are communicating with types you can read it on the screen as well as see them and in turn type back a response that will show up on their display. No internet access needed. This device would not only be good for doctor's visits but in communicating with others with hearing problems or speech problems who you might need to talk to.
ASL or lip reading alone will not help in every situation and sometimes you might need more than either in cases like a doctor's visit, or even a work environment, where you need to understand exactly what someone is saying, which is where devices like this can help.
Neurofibromatosis Type II (NF2), is also known by the name "MISME Syndrome" (Multiple Inherited Schwannomas, Meningiomas and Ependymomas), or Bilateral Acoustic NF (BAN), is a genetic Autosomal Dominant condition. It is an Autosomal Dominant, genetic condition that affects an individual throughout the course of their life. The missing gene that results in NF2, the tumor suppressor gene, should create a protein known as MERLIN (Moesin-Ezrin-Radixin-Like Protein), also referred to as Schwannomin or Bilateral Acoustic NF (BAN). When the Merlin Protein is missing, tumor development occurs.
NF2 results in slow growing typically benign (noncancerous) tumors, primarily in the Central Nerve System; these are nerves in the brain and alone the spinal cord. These tumors result in different forms of nerve damage depending on actual location of each tumor that grows. Despite development of earlier issues that might develop, signs of hearing loss are usually the typical point of NF2 diagnosis for many individuals. Additionally, while Central Nerve System tumors can damage the different nerves for vision, NF2 commonly also results in eye issues unrelated to tumor nerve damage.
NYU is the only hospital in the metropolitan area offering a complete team of doctors experienced with and focused on NF2. It is one of the very few such places in the country. For that reason, our group members tend to favor NYU doctors.
However, there are some excellent doctors unaffiliated with NYU who deal with various aspects of NF2.
Dr. Roland to Receive 2010 Wholeness of Life Award at Ceremony on October 28
J. Thomas Roland Jr., MD, is this year's recipient of the Wholeness of Life Award from HealthCare Chaplaincy, a nonprofit organization that specializes in multifaith, spiritually centered healthcare. Every year, HealthCare Chaplaincy, in coordination with the Department of Pastoral Care, honors a select number of healthcare professionals in metropolitan New York who embody the chaplaincy's commitment to care for the whole person, encompassing spirit, body, and mind. The honorees have all earned a reputation among their colleagues for caring holistically for patients and co-workers by showing respect for the dignity of people, demonstrating a commitment to excellence and caring, and exhibiting compassion and understanding of the spiritual needs of individuals regardless of cultural and religious differences.
Dr. Roland, who is the Mendik Foundation Associate Professor of Otolaryngology, chair of the Department of Otolaryngology, and associate professor of neurosurgery, is a pioneer and expert in cochlear implants. In addition to serving as the co-director of our Cochlear Implant Center, he has also brought his expertise and services to those in need in Uganda-performing surgery and training others to perform various types of ear surgeries.
He was nominated for this award by several colleagues, including Maria Corbo, the former director of international and corporate services, John Golfinos, MD, chair of the Department of Neurosurgery, and Susan Waltzman, PhD, professor of otolaryngology and co-director of the Cochlear Implant Center, with support from an international patient.
Neurofibromatosis Type II (NF2) is a genetic neurological disorder that causes benign tumors to grow within the central nervous system and the peripheral nervous system. NF2 is characterized by bilateral vestibular schwannomas (acoustic neuromas). The majority of NF2 patients (approximately 90%) develop bilateral vestibular schwannomas.
Observation (Watch and Wait)
Patients who are asymptomatic may not need treatment immediately. Patients should undergo periodic MRI scans so that doctors can monitor the growth of the tumors. Doctors will determine how often a patient will need to undergo an MRI. Doctors will advise patients as to when treatment will be necessary as well as which types of treatment would be appropriate for a particular case.
Types of tumors which commonly develop in NF-2 patients:
Three common surgical approaches are used to remove acoustic neuromas: Middle fossa approach, Retrosigmoid approach and Translabyrinthine approach. Several factors determine which approach the surgeons will use for a particular patient.
Gamma Knife Surgery
Also known as Stereotactic Radiosurgery.
CI (Cochlear Implant): In some cases, a patients auditory nerve will still be intact after an acoustic neuroma is removed and the nerve may be functioning well enough for a patient to benefit from a CI.
ABI (Auditory Brainstem Implant): The majority of NF2 patients use an ABI. In many cases during surgery to remove acoustic neuromas, the auditory nerve is severed or not functioning well enough for a patient to benefit from a cochlear implant.
Medication to Stop or Shrink Tumors
A few medications are in trials that we have hope will stop this condition. Progress is being made. Speak to your doctor.
Garrett Dohlke was diagnosed with Neurofibromatosis type 1 (NF1) when he was just 5 years old. Garrett's family had never heard of NF1 and was devastated. Read about Garrett's journey with NF1 and how he overcame many of the challenges associated with the condition.
The post Patient Spotlight: Garrett’s NF1 appeared first on Neurofibromatosis (NF) Center.
Today, more than half of the clinical trials in the United States, including many sponsored by academic and governmental institutions, are not published within two years of their completion. Often they are never published at all. The unreported results, not surprisingly, are often those in which a drug failed to perform better than a placebo. As a result, evidence-based medicine is, at best, based on only some of the evidence. One of the most troubling implications is that full information on a drug’s effects may never be discovered or released.
Finding out that you have an illness or genetic disorder is tough on anyone, what more when you or your loved one has a rare condition that many don't understand. That is why many patients and/or survivors of several conditions create support groups on social media such as Facebook. Keisha Petrus is a NF2 patient who was diagnosed with the disorder when she was just four years old and has since received several surgeries to remove the tumours.
Adults with low-grade gliomas, a form of brain tumor, who received a chemotherapy regimen following completion of radiation therapy, lived longer than patients who received radiation therapy alone, according to long-term follow-up results from a National Institutes of Health-supported randomized controlled clinical trial.
The Accelerating Medicines Partnership (AMP) aims to distinguish biological targets of disease most likely to respond to new therapies and characterize biological indicators of disease, known as biomarkers. Through the Foundation for the NIH (FNIH), AMP partners will invest more than $230 million over five years in the first projects, which focus on Alzheimer’s disease, type 2 diabetes, and the autoimmune disorders rheumatoid arthritis and systemic lupus erythematosus.
It sounds like science fiction, and for years it seemed as though it was just that: fiction. But the idea of gene therapy—introducing copies of healthy genes into people who lack them, to treat disease—is at last looking as if it may become science fact. The most recent success, announced last month in the Lancet, was of an experimental treatment for choroideremia, a type of blindness.
Debilitating conditions such as cystic fibrosis, sickle cell anaemia and haemophilia may soon be curable through the technique in which ‘exceedingly rare’ anomalies can be captured and amplified. ‘For our method to work, we needed to find a way to efficiently identify a single mutation among hundreds of normal, healthy cells,’ said report co-author Dr Yuichiro Miyaoka, of the Gladstone Institutes in California.
A team of researchers from Washington University School of Medicine in St. Louis have developed a pair of high-tech glasses that could help surgeons visualize cancer cells. The glasses contain custom video technology, a head-mounted display and targeted molecular agent that binds to cancer cells. When viewed from behind the glasses, the cancer cells glow blue.
The Fiscal Year 2014 (FY14) Defense Appropriations Act provides $200 million to the Department of Defense Peer Reviewed Medical Research Program (PRMRP). The funding is provided to support select medical research projects of clear scientific merit and direct relevance to military health. This year research support includes Tinnitus.
University of Leeds scientists are exploring whether a simple injection could help shrink a brain tumour as part of groundbreaking research. The research team hopes to harness the power of certain viruses that can kill cancerous cells without harming healthy ones. Such viruses target and ‘invade’ tumour cells, multiplying inside the invaded cell until it bursts and is destroyed. They can also be primed with anti-cancer drugs to boost their destructive potential as they home in on tumour cells.
Shannon Wachal, 26, died on Valentine's Day of a genetic disorder called Neurofibromatosis Type 2. She left behind videos, personal messages, for her husband and daughter that she stored on her Facebook account. But when her husband Charles tried to access them, the account was locked in a memorialized state. Facebook has been trying to work with Charles and since Friday, he has been waiting for a response. When he finally heard from them, it wasn't the news he was expecting. Facebook said his wife Shannon did not have any additional videos set to private.
Let's go fishing… for cancer cells. A tiny rod has been developed that reels in brain tumor cells and guides them out of the brain to their death. Rather than engineer ever more toxic drugs to kill glioblastoma cells deep in the brain, Ravi Bellamkonda – based at Emory University School of Medicine and Georgia Institute of Technology, both in Atlanta – and his team wondered if they could move the tumors to a more accessible location.
Robert Bellin, associate professor of biology at Holy Cross, is currently researching the causes of neurofibromatosis type-2 in a laboratory setting with his junior and senior students, a project he refers to as “a team effort.” Bellin became interested in neurofibromatosis during a post-doctoral position at Boston Children’s Hospital after earning his Ph.D. in biochemistry from Iowa State University. He has conducted research on the disorder for 14 years.
After a week of trying, a local man was finally able to view a video his wife left him before she died. Last week, when Charles tried to do just that, he found that Facebook had “memorialized” his wife’s account after determining she had died. That status meant the account would remain locked and all of Shannon’s privacy settings would remain exactly the same, meaning Charles could not locate the video. Then he figured out how to access the video through the iCloud that backed up data from his wife’s old cell phone on which the video was originally recorded.
Researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD), part of the National Institutes of Health, have found a strong association between hearing impairment and depression among U.S. adults of all ages, particularly in women. The findings were similar among whites, blacks, and Hispanics.
A new type of treatment called "light-activated drug delivery" is showing promise as a way to give doctors control over precisely where and when drugs are delivered inside the patient's body. Now, researchers have developed a light-activated way to target cancer cells without hurting healthy tissue by using drug-carrying nanoparticles.
Research Highlight: Here we describe experiments in which we used Drosophila as an in vivo system to test the functions of the normal human NF2 gene products and patient-derived mutant alleles. Although the predominant NF2 gene isoform, isoform 1, could functionally replace the Drosophila Merlin gene, a second isoform with a distinct C-terminal tail could not. Immunofluorescence studies show that the two isoforms have distinct subcellular localizations when expressed in the polarized imaginal epithelium, and function in genetic rescue assays correlates with apical localization of the NF2 protein.
The Children's Tumor Foundation, the leading non-governmental organization dedicated to neurofibromatosis (NF) research, announced today an important new research collaboration called Synodos, a first-of-its-kind initiative dedicated to defeating the rare genetic disorder neurofibromatosis type 2 (NF2). This unique consortium brings together a multidisciplinary team of scientists from twelve world-class labs at academic and medical centers of excellence, who have pledged to work closely together – sharing information, datasets, results and more – at every step in research development, with the goal of speeding up the drug discovery process.
Research Highlight: In this study, we evaluated clinical behaviors of 12 young sporadic VSs by the statistical comparison with a matched series of 145 adult cases. These results led us to suggest that high frequency of NF2 mutations may play a critical role in early tumorigenesis of young VSs. Moreover, merlin deficiency or phosphorylation status of merlin was involved in their earlier development.
Research Highlight: To assess the impact on image quality of MRI without magnet removal in cochlear implant (CI) and auditory brainstem implant (ABI) users with neurofibromatosis type 2 (NF2). Conclusion: MRI scanning without magnet removal is safe and well tolerated in NF2 patients with auditory implants. With appropriate MRI sequences, the image quality is not significantly impaired.
Research highlight: To assess the impact on image quality of MRI without magnet removal in cochlear implant (CI) and auditory brainstem implant (ABI) users with neurofibromatosis type 2 (NF2). Thirteen patients (10 ABI, 3CI) with NF2 underwent a total of 76 MRI scans.
Research Highlight: In a pilot high-throughput screen of the Library of Pharmacologically Active Compounds, we assayed for compounds capable of reducing viability of mouse Schwann cells (MSC) with Nf2 inactivation as a cellular model for human NF2 schwannomas.
Research Highlight: During treatment (range 4 to 21 months, mean 9.1) with antiangiogenic agents, two patients with an atypical meningioma and radiation necrosis had dramatic partial response, the six NF2 patients had stable or slightly improved disease, and two meningioma patients had disease progression.
Mouse models of human disease are often key parts of biomedical research since they provide scientists a chance to understand the origins and progression of a disease -- and begin testing potential therapies -- in ways that may not be possible with tests in cell cultures in the petri dish.
Research Highlight: This article describes the PRO Working Group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Collaboration, its main goals, methods for identifying appropriate PRO measures for NF clinical trials, and recommendations for assessing pain intensity. Vice president of AdvocureNF2, Barbara Franklin, provided input for this article.
The FY14 Defense Appropriations Act provides $15 million (M) to the Department of Defense Neurofibromatosis Research Program (NFRP) to support innovative, high-impact neurofibromatosis research. This program is administered by the US Army Medical Research and Materiel Command (USAMRMC) through the Office of Congressionally Directed Medical Research Programs (CDMRP).
Researchers at Washington University School of Medicine in St. Louis have received a five-year, $3 million grant from the National Institutes of Health (NIH) to study the effects of asymmetric hearing loss in adults and children. New studies indicate that people with asymmetric hearing experience greater communication difficulties than previously assumed.
Surgeons at University Hospitals Case Medical Center have completed the first auditory brainstem implant (ABI) operation in Northeast Ohio on a woman who has lost most of her hearing due to benign tumors on her auditory nerves. The patient has a relatively rare genetic condition known as Neurofibromatosis Type 2 (NF2). The incidence is estimated to be one in 40,000.
Over the past few years, the pharmaceutical industry has been embroiled in controversy over access to clinical trial data. At issue is the ability for researchers to independently verify study results and, consequently, improve patient treatments that can lead to better health and lower costs. In response, a few drug makers have recently proposed differing plans for providing access, although the extent to which their efforts will assuage concerns remains to be seen.
Researchers from the Karolinska Institutet in Sweden and the Ludwig Institute for Cancer Research in the UK say that their findings, published in the journal Science, may explain why some people become ill even if they have the same gene copy as healthy relatives.
In the current issue of Neuro-Oncology, Dr Giovannini and colleagues report the effect of rapamycin on NF2-deficient schwannoma cell lines in vitro and in vivo. The data presented in the study provide further evidence that rapamycin can increase the time-to-progression of schwannomas in mouse models of NF2.
Johns Hopkins researchers have devised a computerized process that could make minimally invasive surgery more accurate and streamlined using equipment already common in the operating room. In a report published recently in the journal Physics in Medicine and Biology, the researchers say initial testing of the algorithm shows that their image-based guidance system is potentially superior to conventional tracking systems that have been the mainstay of surgical navigation over the last decade.
Research Highlight: To review the useful hearing preservation and tumor control outcomes of microsurgery (MS), stereotactic radiation (SR), conservative management (CM), and chemotherapy (ChT) for Neurofibromatosis type 2 vestibular schwannomas.
British scientists have for the first time used regenerative medicine to fully restore an organ in a living animal, a discovery they say may pave the way for similar techniques to be used in humans in future. The University of Edinburgh team rebuilt the thymus - an organ central to the immune system and found in front of the heart - of very old mice by reactivating a natural mechanism that gets shut down with age.
Researchers from Stanford University School of Medicine have devised an ultra-sensitive method for finding DNA from cancer tumors in the bloodstream. Previous research has already shown circulating tumor DNA holds promise as a biomarker for cancer, but existing methods for detecting it are not sufficiently sensitive and do not cover a diverse range of cancers.