Latest news with #neurofibromatosis
RNZ News
2 days ago
- Health
- RNZ News
Dead teen's family told they had to organise getting his body back to hometown
An urgent transfer meant the young man's family did not have a chance to say goodbye to him before his death. Photo: 123RF The family of a teenager who died from complications after an operation never got the chance to say goodbye. They were further distressed by being told they needed to organise his body's repatriation to his hometown. A complaint about the 19-year-old's care was referred to Health and Disability Commissioner by the coroner. The young man - who died in 2015 - had undergone an operation in January that year related to his type 2 neurofibromatosis - a genetic condition that causes benign tumours to develop on nerves, particularly those in the skull and spine. There were complications due to a post-operative infection and meningitis, which was treated successfully at a secondary hospital. The man - who was referred to in the commissioner's report as Mr B - continued to suffer from fluid building up around the brain and required regular release of cerebrospinal fluid through lumbar puncture. He was admitted to hospital with ongoing headaches and vomiting in April. A decision was made to hold off on further lumbar punctures due to concerns it could cause a hernia and to transfer him to another hospital via an air retrieval team. The transfer was delayed due due to staffing issues and a lack of an available air ambulance. Deputy commissioner Dr Vanessa Caldwell said at the time Mr B was neurologically stable and his transfer was scheduled for the next day. However, while waiting he collapsed and his heart stopped. He was then urgently transferred to another hospital, but his condition deteriorated and at the second hospital he was declared brain dead. Mr B's family told the commissioner they did not understand why he was not transferred by road when the air retrieval team was not available, and they did not understand why he was transferred to another hospital when his prognosis was poor. The transfer meant they did not have a chance to say goodbye to him before his death. The family also said they were asked if they would donate his organs only minutes after being told he was brain dead, which left them little time to consider their options. They were also told by a social worker it was up to them to organise transport of his body back to where they lived, even though he qualified for travel assistance. Health NZ apologised for the distress caused by the discussion related to organ donation and the miscommunication regarding transporting Mr B's body. Dr Caldwell said the care provided to the man was at an appropriate standard and decisions, such as the air transfer, were made appropriately based on the information available to the team at the time. Incorrect and minimal information was provided to the family once the man died and this had been particularly distressing for them, she said. She also had concerns about the communication between the air retrieval team and the teams treating Mr B. Health New Zealand breached the patient's right to information under the Code of Health and Disability Services Consumers' Rights, the commissioner said. A number of changes had been made since the young man's death, including the establishment of Health NZ, Dr Caldwell said. "I am also mindful that providing recommendations at this stage for errors that happened some time ago is likely to have limited practical benefit." She recommended Health NZ Southern and Health NZ Waitaha Canterbury provided a formal written apology for the breaches identified in the report within three weeks. Sign up for Ngā Pitopito Kōrero , a daily newsletter curated by our editors and delivered straight to your inbox every weekday.
Yahoo
05-07-2025
- Business
- Yahoo
BrightSpring's Onco360 Becomes National Pharmacy Partner for New Cancer, Rare Disease Therapies
BrightSpring Health Services Inc. (NASDAQ:BTSG) is one of the best new stocks to buy now. On June 18, BrightSpring Health Services announced that its specialty pharmacy, called Onco360, has been chosen as the national pharmacy partner for several newly approved therapies. These innovative treatments target advanced cancers and rare genetic disorders. BrightSpring delivers care and clinical solutions to 400,000+ customers, clients, and patients daily across all 50 states. Onco360 will provide access, education, data, and expert support for patients suffering from advanced ovarian and lung cancers, as well as neurofibromatosis type 1. A medical technician using surgical robotics to perform minimally-invasive urologic surgery in an operating room. Onco360 has been selected as a pharmacy partner for the following specific medication therapies: GOMEKLI, which is approved for adult and pediatric patients aged 2 years and older with neurofibromatosis type 1 (NF1) who have symptomatic plexiform neurofibromas/PN not suitable for complete resection; AVMAPKI FAKZYNJA CO-PACK, which is approved for adult patients with KRAS-mutated recurrent low-grade serous ovarian cancer/LGSOC who have received prior systemic therapy; and IBTROZI, which is approved for adult patients with locally advanced or metastatic ROS1-positive non-small cell lung cancer (NSCLC). BrightSpring Health Services Inc. (NASDAQ:BTSG) is a home and community-based healthcare services platform in the US that operates through 2 segments: Pharmacy Solutions and Provider Services. Onco360 is a national, independent Oncology Pharmacy and clinical support services company. While we acknowledge the potential of BTSG as an investment, we believe certain AI stocks offer greater upside potential and carry less downside risk. If you're looking for an extremely undervalued AI stock that also stands to benefit significantly from Trump-era tariffs and the onshoring trend, see our free report on the . READ NEXT: and . Disclosure: None. This article is originally published at Insider Monkey. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
CBS News
04-07-2025
- Health
- CBS News
Michigan Matters: Gearing up for a healthier and high-flying future
Dr. Ivan Baines of the Nick Gilbert Neurofibromatosis Research Institute and Dr. Steven Kalkanis of Henry Ford Health appear on Michigan Matters this Sunday to discuss the impact of a new research center coming to life in the heart of Detroit and the timeline of its opening. Dr. Ivan Baines and Dr. Steven Kalkanis Tim Lawlis/CBS Detroit The two leaders discussed how it will not only help in the fight against neurofibromatosis — a genetic disease — but also others, like cancer. The institute was made possible by entrepreneur Dan Gilbert and his wife, Jennifer, who lost their son, Nick, to the disease. The couple has donated millions to it and much more at the new medical hub. Henry Ford Health, Michigan State University, and others are also involved. Then Tony Vernaci of the Aerospace Industry Association of Michigan, Jeff Simek of RCO Aerospace and Engineering, and Kevin Michaels of AeroDynamic Advisory appear on the roundtable as they discuss efforts to grow the aerospace industry. Tony Vernaci, Jeff Simek and Kevin Michaels Tim Lawlis/CBS Detroit Michigan has been involved since World War II, when Ford's Willow Run Assembly Plant was transformed to build bombers used to help win the war. The trio talked about opportunities today, before the region and down the road. (Watch Michigan Matters at its new time: 5:30 a.m. Sundays on CBS Detroit and 9:30 a.m. Sundays on CW Detroit 50 WKBD). (Carol Cain is the 13-time Emmy-winning senior producer and host of Michigan).
Health Line
25-06-2025
- Health
- Health Line
Anaplastic Astrocytoma
This rare, aggressive type of cancerous brain tumor can cause headaches, seizures, and changes in behavior or cognitive (thinking) function. Treatment involves surgery combined with radiation and chemotherapy. Astrocytomas are a type of brain tumor. They develop in star-shaped brain cells called astrocytes, which form part of the tissue that protects the nerve cells in your brain and spinal cord. Astrocytomas are classified by their grade — grade 1 and 2 astrocytomas grow slowly, while grade 3 and 4 astrocytomas grow faster and more aggressively. An anaplastic astrocytoma is a grade 3 astrocytoma. While rare, this type of cancerous tumor can be very serious without treatment. Keep reading to learn more about anaplastic astrocytomas, including their symptoms and the survival rates of people who have them. What are the symptoms? The symptoms of an anaplastic astrocytoma can vary based on exactly where the tumor is, but generally include: headaches lethargy or drowsiness nausea or vomiting behavioral changes memory loss seizures vision problems coordination and balance problems What causes it? Researchers aren't sure what causes anaplastic astrocytomas. However, they may be associated with: genetic abnormalities immune system abnormalities environmental factors, such as exposure to UV rays and certain chemicals lifestyle factors, such as diet or stress People with certain genetic disorders, such as neurofibromatosis type I (NF1), Li-Fraumeni syndrome, or tuberous sclerosis, have a higher risk of developing anaplastic astrocytoma. If you've had radiation therapy on your brain, you may also be at a higher risk. How is it diagnosed? Anaplastic astrocytomas are rare, so your doctor will start by discussing your medical history and performing a physical exam to identify any other possible causes of your symptoms. They may also use a neurological exam to see how your nervous system is working. This usually involves testing your balance, coordination, and reflexes. You may be asked to answer some basic questions so they can evaluate your speech and mental clarity. If your doctor thinks you may have a tumor, they'll likely use imaging such as an MRI scan or CT scan to examine a picture of your brain. If you do have an anaplastic astrocytoma, these images will also show its size and exact location. In some cases, doctors use a PET scan or SPECT scan. These metabolic scans look at cellular activity in the brain rather than the detailed anatomy seen on an MRI. These tests can sometimes be helpful for assessing tumor cells. A biopsy may also be part of the diagnostic process and can involve removing as much of the tumor as possible. How is it treated? There are several options for treating an anaplastic astrocytoma, depending on the size, location, and grade of the tumor. Surgery Surgery is usually the first step in treating an anaplastic astrocytoma. In some cases, your doctor may be able to remove all or as much of the tumor as possible. However, anaplastic astrocytomas may grow in areas of the brain that are not safe or accessible for surgery, so your doctor may only be able to safely remove part of the tumor. Tumor cells that remain because they were not identified or were surgically inaccessible can grow quickly after surgery. Chemotherapy and radiation therapy If your tumor can't be removed with surgery or was only partially removed, you may need follow-up treatment. Radiation therapy destroys cells, especially rapidly dividing cancer cells. This will help shrink the tumor or destroy some or all of the cells that weren't removed during surgery. Anticancer drugs are referred to as chemotherapy and may be used with or after radiation therapy to continue treatment. Some people may also be treated with: epilepsy medication hydrocephalus treatment steroids physical therapy Survival rate and life expectancy According to the American Cancer Society, the 5-year relative survival rate for people with an anaplastic astrocytoma is as follows: 58% for those ages 22 to 44 29% for those ages 45 to 54 15% for those ages 55 to 64 The relative survival rate suggests how long someone with a condition may live after their diagnosis compared to those without the condition of the same race, sex, and age over a specific time. This is different from the overall survival rate, which is a percentage of people still alive for a specific time after diagnosis of a condition. It's most important to remember that these figures are estimates, and everyone is different. You can talk with your doctor about your specific condition. Several factors can affect your survival rate, including: the size, location, and grade of your tumor whether the tumor was completely or partially removed with surgery whether the tumor is new or recurring your overall health Your doctor can give you a better idea of your outlook based on these factors. The takeaway Anaplastic astrocytoma is a rare, aggressive type of cancerous brain tumor. Symptoms can vary but often include headache, seizures, and changes in behavior or cognitive function.
Medscape
23-05-2025
- Health
- Medscape
Irish Drug Ezmekly Gets EU Nod for Plexiform Neurofibromas
At its May 2025 meeting, the European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) gave a conditional marketing authorization for mirdametinib (Ezmekly, Springworks Therapeutics Ireland Limited) for the treatment of plexiform neurofibromas (PN) in adults and children from 2 years of age with neurofibromatosis type 1 (NF1). Plexiform neurofibroma is a genetic condition that manifests with irregular, thick, ill-defined tumors of the peripheral nerve sheaths. Most are benign, but some can change into cancerous tissue. The CHMP grants conditional marketing authorization to a medicinal product when it can fulfil an unmet medical need and the benefit to public health of immediate availability outweighs the risk inherent in the fact that additional data are still required. It was based on the findings of the ReNeu trial: an open-label, multicenter, pivotal, phase IIb trial of mirdametinib in adults aged 18 and older (n = 58) and children aged 2-17 years (n = 56), with NF1-PN causing significant morbidities. Patients received mirdametinib capsules or tablets for oral suspension in 3 weeks on/1 week off, 28-day cycles. Twenty-four of 58 adults (41%) and 29 of 56 children (52%) had a blinded independent central review confirmed objective response during the 24-cycle treatment phase. In addition, two adults and one child had confirmed responses during long-term follow-up. The median target plexiform neurofibroma volumetric best response was -41% in adults and -42% in children. Both cohorts reported significant and clinically meaningful improvement in patient- or parent proxy-reported outcome measures of worst tumor pain severity, pain interference, and health-related quality of life that began early and were sustained during treatment. The researchers said that mirdametinib treatment was well-tolerated in adults and children with the most commonly reported treatment-related adverse events being dermatitis acneiform, diarrhea, and nausea in adults and dermatitis acneiform, diarrhea, and paronychia in children. Treatment Provides Durable Responses The active substance of Ezmekly, mirdametinib, is a selective, non-competitive mitogen-activated protein kinase 1 and 2 (MEK 1/2) inhibitor. By inhibiting MEK, mirdametinib blocks the proliferation and survival of tumor cells in which the rapidly accelerated fibrosarcoma‑MEK-extracellular related kinase pathway is activated. In granting the authorization, the CHMP said that the benefits of Ezmekly were its ability to provide durable responses: reduction of the volume of PN in adults and children from 2 years of age with NF1-associated symptomatic, inoperable PN. Ezmekly will be available as 1 mg and 2 mg hard capsules and 1 mg dispersible tablets as monotherapy for the treatment of symptomatic, inoperable PN in pediatric and adult patients with NF1 aged 2 years and older. Ezmekly was designated as an orphan medicine during its development for use against a rare, life-threatening, or chronically debilitating condition or, for economic reasons, would have been unlikely to have been developed without incentives. The EMA said that it would now review the information available to-date to determine if the orphan designation can be maintained.
