Treat Seizure – Kepplah http://kepplah.com/ Wed, 29 Jun 2022 18:51:27 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://kepplah.com/wp-content/uploads/2021/05/kepplah-150x150.png Treat Seizure – Kepplah http://kepplah.com/ 32 32 The 4 main summer injuries and how to avoid them https://kepplah.com/the-4-main-summer-injuries-and-how-to-avoid-them/ Wed, 29 Jun 2022 18:08:22 +0000 https://kepplah.com/the-4-main-summer-injuries-and-how-to-avoid-them/

We reached out to our doctors and they shared the three most common reasons people come for emergency care in the summer: swimmer’s ear, heat stroke, tick bites and sunburn.

Follow these tips to stay healthy this summer.

swimmer’s ear

Swimmer’s ear is a painful infection of the outer ear canal, caused by water entering and remaining in the ear.

Symptoms include:

  • The ears are clogged or itchy.
  • The ear canal becomes red or swollen.
  • Milky fluid is leaking from your ear.
  • The ear is painful to the touch.


How to avoid swimmer’s ear:

  • Try to keep your ears as dry as possible.
    • Use earplugs when swimming.
  • After swimming or showering, gently tilt and shake your head to dislodge water.
  • Use a hair dryer on low heat, hold it about 30cm from your ear and blow hot air towards your ear.
  • If you swim frequently, talk to your health care provider about drying ear drops, they may be an option for you.

If your ears are clogged or painful, don’t try to clean them yourself. Go to a local urgent care center at the first sign of pain to avoid infection.

Heatstroke

Heatstroke is the most serious form of heat illness and is a life-threatening emergency. Heat stroke occurs when you are extremely exposed to the sun and cannot sweat enough to cool your body temperature.

Symptoms include:

  • A body temperature of 104°F (40°C) or higher
  • Confusion or difficulty thinking clearly
  • Hallucinations
  • Difficulty walking
  • Seizures
  • pass out


How to avoid heatstroke:

  • Drink plenty of fluids and stay hydrated during outdoor activities.
  • Bring an insulated water bottle with you when you leave the house.
  • Wear loose clothing.
  • Plan outdoor activities in the morning or evening, for the cooler times of the day.
  • Never leave children or pets in a closed car on a hot or sunny day.

If you or someone close to you shows signs of heat stroke, go urgently for an evaluation. IV hydration may be required.

Tick ​​bites

Whether you’re hiking or strolling through the park, spending time outdoors and in grassy areas carries a risk of tick bites.

Symptoms include: Rash, fever, fatigue, headache, muscle aches, joint swelling and pain.

How to avoid tick bites:

  • If entering a wooded area or lawn, wear long pants and high socks.
  • After spending time outdoors, quickly remove your clothes and take a heavy shower.
  • Spend more time checking your body for ticks, especially your ankles, groin, and behind your ears.

If you find a tick, weather permitting, head to your local urgent care center to get it removed as soon as possible. Many urgent care can send the tick for testing to determine if it carries the disease.

If you are unable to get emergency care immediately, you can try to remove the tick yourself. The best thing to do is to take pointed tweezers, get as close to your skin as possible and grab the tick’s head, then pull upwards, steadily but without jerking. The goal is to remove the entire tick, without leaving the head in your body.

Avoid unconventional removal methods like holding a match against the tick’s body or pouring alcohol on the tick
.

Sunburn

While these tips are here to save you from needing medical attention and taking advantage of the warmer weather, it’s important to maintain safe practices when out in the sun.

Severe sunburns can include: blistering or swelling of the skin, fever, nausea, dehydration, headache, heat stroke or heat exhaustion.

How to avoid severe sunburn:

  • If possible, stay in the shade.
  • Avoid peak sunlight hours (10 a.m. to 2 p.m.)
  • Always wear sunscreen; SPF 30 or higher.
  • Wear a hat, sunglasses, and protective clothing like long-sleeved shirts and pants.

If you have severe symptoms of sunburn, you should see a doctor. Urgent care treatment may include IV hydration and pain management with topical creams or oral medications.

Next steps and resources


The material provided by HealthU is intended to be used for general information only and should not replace the advice of your physician. Always consult your doctor for individual care.

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3 dead when Amtrak train from Los Angeles to Chicago derails in Missouri https://kepplah.com/3-dead-when-amtrak-train-from-los-angeles-to-chicago-derails-in-missouri/ Tue, 28 Jun 2022 02:26:15 +0000 https://kepplah.com/3-dead-when-amtrak-train-from-los-angeles-to-chicago-derails-in-missouri/

Three people were killed and dozens more injured when an Amtrak train heading from Los Angeles to Chicago slammed into a dump truck in Missouri on Monday, officials said.

A federal official said the eight-car train was traveling at about 90 mph when it hit the truck at a public level crossing southwest of the rural town of Mendon at 12:42 p.m. There were 207 passengers and crew on board. Seven cars derailed.

The crossing had no electronic signals to warn traffic, which is common in the area, Cape Town. Justin Dunn of the Missouri State Highway Patrol said.

“It was terrifying,” said Dax McDonald, who boarded the Southwest Chief train in Flagstaff, Arizona. Near Mendon, he was looking to the right side of the train and saw a large dump truck moving through a cloud of dust.

He remembered the train going past the fields at a rapid pace.

“Then there was a big bang and the train swerved,” McDonald said. “Then it began to tilt to the right before hitting the ground hard.”

Two of those killed were on the train and the other was in the truck, Dunn said. At least 50 people were injured, according to Chariton County Ambulance District Manager Eric McKenzie, which operates near Mendon.

Pictures shared on social networks showed a chaotic scene with passengers climbing out of windows and several overturned train carriages amidst blue skies and green fields.

McDonald posted video on Twitter of the interior of the overturned train with disheveled passengers sifting through their overturned luggage.

Her sisters were thrown from their seats. A woman in front of him was thrown forward and had a seizure. “People were shouting, ‘Is everyone okay?’ And people were like, ‘No, I’m hurt.’ ”

He climbed onto the seats and was able to squeeze his body through a window to get out, but the others couldn’t.

The National Transportation Safety Board is scheduled to arrive on the scene Tuesday and search for the train recorder and video footage of the accident. NTSB Chair Jennifer Homendy said it was too early to comment on details of the investigation beyond the board seeking route speed data as well as data recorder information and Amtrak camera footage.

Dozens of patients from the crash were taken to local hospitals, and some were airlifted in critical condition, officials said.

At least three people were transported to Columbia University Hospital, said Eric Maze, spokesman for the University of Missouri Health System. University of Missouri Health Care said it was caring for nine patients from the derailment.

Ben Cornelius, spokesman for Boone Hospital in Columbia, said the facility treated 28 patients for minor to moderate injuries. Most have been released or are expected to be by Monday evening.

Debris lies near train tracks after an Amtrak passenger train derailed near Mendon, Missouri.

(Dax McDonald/Associated Press)

A passenger posted a Facebook Live video moments after getting out and sitting on top of the overturned train. He was breathing heavily and his voice cracked as he walked towards the wreckage. “Shit, we hit a truck. Looks like someone was crossing the tracks,” he said.

First responders and volunteers helped passengers get to Mendon, where they could organize their trip.

“So grateful for the people here,” McDonald wrote on Twitter, along with photos from the gymnasium at Northwestern High School. “This city has stepped up to help everyone.”

Mendon Mayor Ronnie Rogers said he was at a church bringing water and food to those who had to stay overnight.

The crash happened at an uncontrolled level crossing where the BNSF train tracks meet a gravel road. It had no crossing arms designed to lower as trains approach, preventing drivers from entering the tracks, according to federal records.

Drivers approaching the rural railroad crossing in Chariton County, Missouri, would see two black-and-white X-shaped signs, called crossbucks, which often read “Railway Crossing,” according to the database of U.S. Department of Transportation level crossings. But the crossing was not equipped with flashing lights, bells, floor markings or barriers that prevent motorists from crossing the tracks.

In 2019, according to the latest data available, about 29 trains passed through the intersection per day and about the same number at night, according to the Department of Transport. The majority of traffic came from freight trains. The crossing saw two passenger trains per day that year. The maximum speed of trains in the corridor is 90 mph, according to the documents. The crossing is primarily controlled by the BNSF Railway.

The crossing was to be upgraded this year to include lights, gates and other roadway improvements, at a cost of $400,000, according to an infrastructure plan released this year by the Missouri Department of Transportation.

According to federal records, no collisions have been previously reported at the intersection.

The Southwest Chef travels between Chicago and Los Angeles with stops in Kansas City, Albuquerque and Flagstaff, according to Amtrak.

The crash came a day after another Amtrak train collided with a car in California’s East Bay, killing at least three people. Eighty-five people were on the train, which was traveling from Stockton to Martinez. No injuries were reported among passengers and crew on the train, officials said.

Times staff writers Hayley Smith, Nathan Solis and Richard Winton contributed to this report.

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Anavex Life Sciences (NASDAQ:AVXL) Share Price Down 6.1% https://kepplah.com/anavex-life-sciences-nasdaqavxl-share-price-down-6-1/ Sun, 26 Jun 2022 07:58:48 +0000 https://kepplah.com/anavex-life-sciences-nasdaqavxl-share-price-down-6-1/

The share price of Anavex Life Sciences Corp. (NASDAQ:AVXL – Get Rating) was down 6.1% in Friday’s session. The stock traded as low as $9.78 and last traded at $9.81. About 18,066 shares changed hands during trading, down 98% from the average daily volume of 912,004 shares. The stock had previously closed at $10.45.

A number of research companies have recently published reports on AVXL. HC Wainwright reworded a “buy” rating and posted a $42.00 price target on Anavex Life Sciences shares in a Wednesday, March 16 research report. StockNews.com kicked off coverage of Anavex Life Sciences in a Thursday, March 31 report. They issued a “sell” rating on the stock. Finally, Berenberg Bank launched coverage on Anavex Life Sciences in a report on Thursday. They issued a “buy” rating and a price target of $40.00 on the stock. One analyst gave the stock a sell rating and four gave the company a buy rating. Based on data from MarketBeat.com, the company currently has a consensus rating of “Moderate Buy” and a consensus target price of $39.00.

The company has a market capitalization of $787.26 million, a price-earnings ratio of -17.84 and a beta of 0.92. The company’s 50-day moving average price is $8.93 and its two-hundred-day moving average price is $11.83.

Anavex Life Sciences (NASDAQ:AVXL – Get Rating) last announced its results on Tuesday, May 10. The biotech company reported ($0.14) earnings per share for the quarter, beating the consensus estimate of ($0.16) by $0.02. During the same quarter last year, the company posted ($0.12) EPS. Stock analysts predict that Anavex Life Sciences Corp. will show an EPS of -0.6 for the current year.

Separately, director Athanasios Skarpelos sold 50,000 shares of the company in a transaction dated Wednesday, May 25. The shares were sold at an average price of $9.06, for a total value of $453,000.00. Following the completion of the sale, the administrator now owns 1,306,458 shares of the company, valued at $11,836,509.48. The sale was disclosed in a legal filing with the SEC, which is available on the SEC’s website. 11.00% of the shares are held by insiders of the company.

Hedge funds have recently been buying and selling shares of the company. Apella Capital LLC acquired a new equity stake in Anavex Life Sciences during Q1 worth approximately $124,000. Dana Investment Advisors Inc. bought a new position in Anavex Life Sciences stock during Q1 worth approximately $132,000. Atria Wealth Solutions Inc. bought a new position in Anavex Life Sciences stock during Q1 worth approximately $136,000. Point72 Hong Kong Ltd increased its stake in Anavex Life Sciences shares by 151.6% during the 4th quarter. Point72 Hong Kong Ltd now owns 9,009 shares of the biotech company worth $156,000 after buying 5,428 more shares last quarter. Finally, Liberty One Investment Management LLC increased its stake in Anavex Life Sciences shares by 23.3% during the 1st quarter. Liberty One Investment Management LLC now owns 13,119 shares of the biotech company worth $161,000 after buying 2,479 additional shares last quarter. Institutional investors hold 29.01% of the company’s shares.

Company Profile Anavex Life Sciences (NASDAQ:AVXL)

Anavex Life Sciences Corp., a clinical-stage biopharmaceutical company, engages in the development of drug candidates for the treatment of central nervous system (CNS) diseases. Its lead drug candidate is ANAVEX 2-73, which is in a phase III clinical trial for the treatment of Alzheimer’s disease; Phase III clinical trial to treat pediatric patients with Rett syndrome; phase II clinical trial for the treatment of Parkinson’s disease; and preclinical clinical trials to treat epilepsy, infantile spasms, fragile X syndrome, Angelman syndrome, multiple sclerosis and tuberous sclerosis complex.

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Emirates News Agency – UAE pediatric care experts discuss recent findings in research and gene therapy for rare diseases https://kepplah.com/emirates-news-agency-uae-pediatric-care-experts-discuss-recent-findings-in-research-and-gene-therapy-for-rare-diseases/ Wed, 22 Jun 2022 08:48:00 +0000 https://kepplah.com/emirates-news-agency-uae-pediatric-care-experts-discuss-recent-findings-in-research-and-gene-therapy-for-rare-diseases/

22nd June, 2022 (WAM) — Researchers from the Zayed Center for Research into Rare Disease in Children in London recently shared their cutting-edge work during two podcasts.

Waseem Qasim, professor of cell and gene therapy at the Institute of Child Health and Great Ormond Street Hospital, was featured on Crowd Science, a BBC World Service podcast, in an episode titled ‘How Far Does Editing of genes could she go?”.

Professor Qasim, whose team at the Zayed Center for Research focuses on developing science and technology to make treatments for rare and hard-to-treat leukaemias, explained how gene editing is currently being used and what might be possible in the future.

“We can now engineer immune cells to attack leukemia more specifically. We can collect cells from the patient or a healthy donor, take them to a lab, select the immune cells, and as various pieces of technology have merged – or converged – it is now possible to reprogram these cells and introduce new genes into them to give them new properties,” Qasim noted.

“We try to rearm these cells and give them receptors on their surface, which can select – very specifically – for target cells that they recognize as dangerous or abnormal.”

Dr Amy McTague, Academic Clinical Consultant, Principal Investigator at UCL GOS Institute of Child Health, focuses her research on early onset epilepsies. She was featured on the educational podcast “Epilepsy Sparks Insights”, hosted by Torie Robinson.

Dr. McTague explained how her work helps babies and families with the diagnosis and treatment of babies with genetic epilepsy. She described her team’s work in an international genomics collaboration called the Gene Step Study, which includes SickKids Toronto, Melbourne Children’s Hospital and Boston Children’s Hospital. It is focused on rapid testing for babies and their parents and has had “real impacts for families”.

She continued: “Doing [the research project] internationally has been very exciting – and quite challenging too! But we hope to show that even across different healthcare systems, having the diagnosis earlier in the patient journey can make a big difference in the patient and parent experience as well as in the management of epilepsy.” .

Looking to the future, Dr. McTague shared excitement about tailored treatments that address genetic abnormalities rather than treating seizures or movement disorders. Early diagnosis means patients can be moved more quickly to the appropriate pathway for personalized treatment, maximizing outcomes and life chances for children.

The Zayed Center for Research is a partnership between Great Ormond Street Hospital (GOSH), University College London and Great Ormond Street Hospital Children’s Charity, and was made possible by a generous donation of £60 million in 2014 by HH Sheikha Fatima bint Mubarak, President of the General Women’s Union, President of the Supreme Council for Maternity and Childhood and Supreme President of the Family Development Foundation.

All research conducted at Great Ormond Street Hospital is supported by support from the NIHR GOSH Biomedical Research Center.

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Findings shed new light on memory and epilepsy – ScienceDaily https://kepplah.com/findings-shed-new-light-on-memory-and-epilepsy-sciencedaily/ Mon, 20 Jun 2022 21:20:41 +0000 https://kepplah.com/findings-shed-new-light-on-memory-and-epilepsy-sciencedaily/ Scientists at the University of California at Irvine have found that injury to one part of the brain changes the connections between nerve cells throughout the brain. The new research was published this week in Nature Communication.

Each year in the United States, nearly two million Americans suffer a traumatic brain injury (TBI). Survivors can live with lifelong physical, cognitive and emotional disabilities. Currently, there is no treatment.

One of the biggest challenges for neuroscientists has been to fully understand how a TBI alters crosstalk between different brain cells and regions.

In the new study, the researchers improved a process called iDISCO, which uses solvents to make biological samples transparent. The process leaves behind a fully intact brain that can be illuminated with lasers and imaged in 3D with specialized microscopes.

Using enhanced brain-cleansing processes, the UCI team mapped neural connections throughout the brain. The researchers focused on connections to inhibitory neurons because these neurons are extremely vulnerable to death after brain injury. The team first looked at the hippocampus, a region of the brain responsible for learning and memory. Next, they studied the prefrontal cortex, a region of the brain that works with the hippocampus. In both cases, imaging showed that inhibitory neurons acquire significantly more connections from neighboring nerve cells after TBI, but disconnect from the rest of the brain.

“We’ve known for a long time that communication between different brain cells can change very dramatically after injury,” said Robert Hunt, PhD, associate professor of anatomy and neurobiology and director of the Center for Epilepsy Research at the University. ‘UCI School of Medicine whose lab conducted the study, “But, we haven’t been able to see what’s going on in the whole brain so far.”

To take a closer look at damaged brain connections, Hunt and his team developed a technique to reverse the cleaning procedure and probe the brain with traditional anatomical approaches.

The results surprisingly showed that the long distant nerve cell projections were still present in the damaged brain, but no longer formed connections with the inhibitory neurons.

“It appears that the entire brain is carefully rewired to accommodate the damage, whether or not there was direct injury to the region,” explained graduate student and study co-first author Alexa Tierno. “But different parts of the brain probably don’t work as well together as they did before the injury.”

The researchers then wanted to determine whether it was possible to reconnect inhibitory neurons with distant brain regions. To find out, Hunt and his team transplanted new interneurons into the damaged hippocampus and mapped their connections, based on the team’s previous research showing that transplanting interneurons can improve memory and stop seizures in mice with TBI.

The new neurons received appropriate connections from across the brain. While this may mean it might be possible to trick the injured brain into repairing those lost connections on its own, Hunt said learning how transplanted interneurons fit into damaged brain circuitry is essential for any future attempts. to use these cells for brain repair.

“Our study is a very important addition to our understanding of how inhibitory progenitors may one day be used therapeutically for the treatment of TBI, epilepsy, or other brain disorders,” Hunt said. “Some people have proposed that transplanting interneurons might rejuvenate the brain by releasing unknown substances to stimulate innate regenerative capacity, but we’re seeing that the new neurons are really hard-wired into the brain.”

Hunt eventually hopes to develop a cell therapy for people with TBI and epilepsy. The UCI team is now repeating the experiments using inhibitory neurons produced from human stem cells.

“This work brings us closer to a future cell therapy for people,” Hunt said, “Understanding the types of plasticity that exist after injury will help us reconstruct the injured brain with a very high degree of precision. However, it is very important that we move step by step towards that goal, and that takes time.

Jan C. Frankowski, Ph.D.; Shreya Pavani; Quincy Cao and David C. Lyon, PhD also contributed to this study. Funding was provided by the National Institutes of Health.

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What is carnosinemia? https://kepplah.com/what-is-carnosinemia/ Sun, 19 Jun 2022 04:00:00 +0000 https://kepplah.com/what-is-carnosinemia/

Introduction
Story
Causes and Symptoms
Epidemiology
Diagnosis and treatment
References


Carnosinemia, also known as carnosinase deficiency, is an extremely rare inherited metabolic disorder. It presents with increased levels of carnosine in the urine and low levels or absence of carnosinase in the blood. It is associated with severe neurological symptoms in humans and is characterized by developmental delays and seizures. Common symptoms include tremors, psychomotor impairment, hypotonia, myoclonic seizures, and inability to socialize.

Carnosine is a dipeptide composed of beta-alanine and histidine found in skeletal muscle and nervous system cells. As a result of this condition, there is an accumulation of carnosine in urine, cerebrospinal fluid, blood, and nerve tissue.

Image credit: Spunt/Shutterstock.com

Story

Carnosinaemia was initially characterized as an inherited metabolic disorder in 1967, and was later shown to be caused by a lack of serum carnosinase in 1968. Perry et al. (1967) described two unrelated children who had a developing neurological disorder with severe mental retardation and myoclonic seizures. Even after all sources of the dipeptide were removed from the diet, both excreted carnosine in urine.

Perry et al. (1967) hypothesized that one, or possibly both, had a deficiency in carnosinase activity. A child was born to first cousin parents and had German and Dutch ancestry. The other youngster came from a Chinese family. The enzyme in normal human serum that hydrolyzes the dipeptides carnosine and anserine to their constituent amino acids was nearly absent in both patients, according to Perry et al. (1968).

Terplan and Cares (1972) documented another family with this unusual abnormality. Two brothers, aged seven and four, had died. A 6-year-old sister appeared to be normal, but she suffered from chemical alterations. Carnosinase activity in the parents is low. The older boy’s autopsy revealed extensive axonal degeneration, numerous gray matter spheroids, demyelination, fibrosis, and loss of Purkinje fibers.

Willy et al. (1997) described a 30-month-old child with hypotonia, developmental delay, and tremors who excreted substantial levels of carnosine and anserine while eating only small amounts of meat. These abnormalities were ameliorated but not eliminated by a strict meatless diet. Serum carnosinase activity was found to be extremely low.

Causes and Symptoms

Although the specific nature of the biochemical abnormality that causes carnosinemia is unknown, carnosinase, the enzyme that breaks down carnosine, is present in both the brain and the blood. Studies of muscle tissue from affected individuals reveal that the enzyme carnosinase is aberrant in its metabolism of two dipeptides found in meats, carnosine and anserine.

The CNDP1 (Carnosine Dipeptidase 1) gene encodes carnosinase (CN1), an enzyme that degrades histidine-containing dipeptides such as carnosine, anserine and homocarnosine. Carnosinemia is thought to be passed down in the family in an autosomal recessive fashion. The genetic basis of carnosinemia has not been definitively confirmed to be attributable to CNDP1 mutations, but reduced CN1 function is expected to increase serum carnosine concentrations.

Carnosinaemia and serum carnosinase deficiency have a wide range of clinical manifestations. 80-99% of patients have elevated urine carnosine, loss of developmental milestones and intellectual disability. Extreme drowsiness and seizures are common signs of carnosinemia in children under one year old. Children with this condition have stunted growth, low muscle tone, motor difficulties, and intellectual development delays.

Myoclonic seizures can occur during seizures. Affected children exhibit varying degrees of intellectual deficit in pairs, resulting in intellectual disabilities and developmental regression. Some of the young people affected also have muscle weakness (congenital myopathy). A few patients with few or no symptoms have been diagnosed with this disease.

Carnosineuria (excess carnosine in the urine) and low levels of the enzyme carnosinase in the blood are common in affected individuals. It is also unclear how low levels of carnosinase and/or high levels of carnosine in the body relate to the neurological symptoms of the disorder.

Epidemiology

A total of 30 people have been identified worldwide. Both males and females are at risk.

Diagnosis and treatment

Testing for amino acid amounts in blood and/or urine may indicate abnormally high levels of carnosine and anserine in serum and urine, indicating carnosinemia. The carnosinase enzyme in the blood can be detected by highly specialized blood tests. After eliminating meat from the diet, a serum and/or urine amino acid study is used to establish the diagnosis.

Since there is no effective drug treatment for carnosinemia, it is treated symptomatically and supportively. Carnosine, a dipeptide containing histidine and alanine, is abundant in meat. When carnosinase is deficient, carnosine levels increase in blood and urine.

A strict meatless diet may relieve symptoms, but it will not cure the disease. A vegetarian diet lowers serum carnosine levels by reducing the amount of carnosine and anserine supplied to the body. However, it is uncertain whether this has an impact on symptoms or disease progression. Patients with carnosinemia and their families should seek genetic counseling.

References:

  • Shivam Choudghal, Dr.C.Revathi M.Sc.(N), Ph.D.(N), Dr.B.Senthilkumar, Henrita Boro, Saksham Kumar, Drishti Sharma, & Harleen Kaur. (2021). A PERSPECTIVE REVIEW OF CARNOSINEMIA. International Journal of Allied Medical Sciences and Clinical Research, 9(3), 493-496. Retrieved from https://ijamscr.com/ijamscr/article/view/1054
  • Caruso, G., Caraci, F., & Jolivet, RB (2019). Pivotal role of carnosine in modulating brain cell activity: multimodal mechanism of action and therapeutic potential in neurodegenerative diseases. Advances in Neurobiology, 175, 35–53. https://doi.org/10.1016/j.pneurobio.2018.12.004
  • Peters, V., Zschocke, J. and Schmitt, CP (2018). Carnosinase, diabetes mellitus and potential relevance of carnosinase deficiency. Journal of Inherited Metabolic Diseases, 41(1), 39–47. https://doi.org/10.1007/s10545-017-0099-2
  • Carnosinemia. [Online] OMIM. Available at: https://omim.org/entry/212200
  • Carnosinemia. [Online] NIH-GARD. Available at: https://rarediseases.info.nih.gov/diseases/6001/carnosinemia
  • Carnosinemia. [Online] National Organization for Rare Diseases. Available at: https://rarediseases.org/rare-diseases/carnosinemia/

Further reading

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Mental illness, euphemisms and stigma by committee https://kepplah.com/mental-illness-euphemisms-and-stigma-by-committee/ Thu, 16 Jun 2022 20:52:00 +0000 https://kepplah.com/mental-illness-euphemisms-and-stigma-by-committee/
Sensory overload

Since mental illness has been one of the national topics lately, for all the wrong reasons, I thought I would finally write about an issue that has bothered me for a long time. I’m both bipolar and autistic (won a double in the brain disorder lottery) so I’ve spent more than my fair share of time dealing with mental health professionals and trying to navigate a medical system that doesn’t always feel entirely safe. In addition to fears about mainstream biases, the language used to describe mental illness can be very problematic in medical settings and can even interfere with care in some cases. This is where the euphemisms come in.

At some point in the last 20 to 30 years, someone somewhere decided to start renaming “mental health” to “behavioral health”. I really don’t know where the term comes from, or why anyone thought such a name change was necessary, but it has all the trappings of an understatement that a committee would find for known reasons only committees. The term is not universal, but many large organizations and medical professionals now use it. When I first noticed that the mental health clinic I was using had turned into a behavioral health clinic, I didn’t like it. At all. But I tried to put it aside as one of my many ruminations on ultimately unimportant matters. That is, until an incident with a neurologist put things right.

I was visiting a neurologist for a problem unrelated to bipolar or autism and he started with a review of my medications after I gave a brief summary of the problem. It was then that he asked me if any of my medications were prescribed for epilepsy or a “behavioral problem”. Behavior problem. That is to say, bipolar, because some of the drugs used to treat epilepsy have also been shown to be very helpful in treating bipolar people. You’re probably starting to realize what the language problem is now, if you haven’t already guessed.

My disease is a disease. It is not a behavior that I have the power to change or something that can be driven by me. It’s not something I caused or something that will go away if I make better life choices. I’m not a kid throwing a tantrum in line. We don’t call bone fractures “bone behaviors.” Heart attacks are not “cardiac behaviors”. Epilepsy is not a “convulsive behavior”. Why should mental illnesses be classified as behaviors when other medical conditions are not?

I’m not going to pretend that the behaviors don’t go hand in hand with bipolar, because they do, but those are symptoms, not the disease itself. Some behaviors are extremely negative, but that’s not all. I have bipolar type 2, which means I have hypomanic episodes instead of full mania. It’s like mania-lite. Most of my episodes are also mixed bipolar, meaning I have features of mania and depression simultaneously. Sometimes this manifests as extreme restlessness and excessive energy as well as a generally depressed mood and sometimes I can have dramatic and sudden mood swings. I can go from a beautiful day to the brink of suicide in an instant. I had to put myself down more than once, reminding myself that it will pass, which always happens. When I have episodes, whether hypomanic, depressive or mixed, it affects my family and those around me. But it also affects me personally. By calling a behavior bipolar, the implication is that the reason for the treatment is to stop the behavior. To put an end to the things I do that bother others. My personal suffering, my inner state, is taken out of the equation. The treatment is no longer about me, but about what I do, or might do, to everyone. Imagine if people were told that their pneumonia would be treated because the constant cough bothered their roommates.

I was finally diagnosed on a hunch after years of trying to treat conditions that I don’t have. I can’t really blame psychiatrists because diagnosing mental illness isn’t easy and sometimes takes a lot of trial and error. In my case, my new doctor thought bipolar might be the problem after I mentioned that my chronic insomnia was always worse in the spring and fall. Apparently seasonal insomnia is sometimes a symptom of bipolar. So I started taking the drug as a test and my decades of battling insomnia came to an end. I also felt more comfortable in general. I didn’t feel like the drugs had changed me, but like everything else in the world was suddenly less intense. I was no longer subjected to a continuous punch in the face due to sensory overload. It was also a very difficult period because on the one hand the drugs were working very well. On the other hand, I had my own biases about bipolar and really didn’t want to be one of the those people. I was a little upset that the medication was working because it proved that I was one of those sneaky, unpredictable, insufferable bipolar people. I’ve come to accept this for myself, but I’ve always been sensitive about it because certainly other people, even medical professionals, have the same biases I once had. I usually have to disclose that I’m bipolar because meds are important and I can’t exactly claim that I have epilepsy. But it still scares me because I never know if my disorder will influence how the doctor thinks of me. Am I going to be taken seriously, or are they going to assume I’m exaggerating because that’s exactly what bipolar people do? I do not know. Knowing that medical professionals can double stigmatize me with their own terminology makes it even worse. There were times when I just left the drug and the diagnosis off the list because I felt the risk of stigma was worse than the risk of something going wrong by hiding it. The fear of having someone ask about my “behavioural problem” is sometimes too strong. I’m sure I’m not the only one.

So why am I talking about it now? Well, there is apparent agreement on a gun control bill that includes mental health provisions. Specifically, there are supposed to be new funds to expand access to mental health care. That’s great – more access is always better – but the reason for improving access is as offensive as the euphemistic “behavioral health”. Republicans are now willing to increase funding for mental health care not because people with illnesses deserve treatment, but because certain categories of illnesses are scary. Our behaviors (or imagined behaviors) frighten people, or at least upset them politically, and therefore need to be dealt with.

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NJ Bill Could Impose Wrongful Confiscation of Animals | Fox Rothschild LLP https://kepplah.com/nj-bill-could-impose-wrongful-confiscation-of-animals-fox-rothschild-llp/ Tue, 14 Jun 2022 14:15:40 +0000 https://kepplah.com/nj-bill-could-impose-wrongful-confiscation-of-animals-fox-rothschild-llp/

By Meghan Curriesummer partner at Fox Rothschild LLP, based in the firm’s Princeton office

A recent bill, A2354, introduced in February of this year by New Jersey lawmakers should be at the forefront of any New Jersey pet owner’s mind. The bill proposes amendments, strengthening the existing Animal Cruelty Act 4:22-17, which deals with animal cruelty violations. The bill was introduced in the previous legislative session as A6099, but never passed.

These additional provisions would significantly raise the stakes and make the repercussions of breaking the law much more extreme. Although on the face of it this appears to be a well-meaning bill aimed at holding animal abusers accountable for the mistreatment of pets, the bill also has the potential to significantly erode pet owners’ rights. pets and service animals, falsely accused of animal cruelty, statewide.

If passed, the bill will affect owners of companion and service animals (to put it briefly, “dog owners”) and people in possession of dogs at the time of seizure , if the owner is unknown. If an animal welfare agency can demonstrate by a preponderance of evidence that an animal was taken into custody either to protect the animal from harm or to provide necessary medical care, that owner or caregiver may having to pay potential expenses, may be separated from the dog for an extended period, the animal may be temporarily placed in a kennel, shelter, or even foster home, and in some cases the dog may be euthanized without the owner’s consent if deemed necessary by a veterinarian. In addition, the bill grants officers permission, in certain cases, to enter private residences and seize dogs without court approval or a warrant. The concern here is that these officers may not be sufficiently trained to identify emerging or other animal care needs, allowing them to unilaterally seize dogs, with their decision potentially having a significant impact on the dog owner. .

If the bill were to pass, indigent owners could potentially have their pets seized inappropriately and be forced to pay large sums of money to get their pet back, essentially allowing financial circumstances to dictate whether one should whether or not to abandon their seized pets. The expenses for which one may be held responsible due to seizure can encompass a wide range of areas. These “reasonable costs of care” include: (1) the costs of housing, food, water and bedding needed to house an animal, (2) the costs of care needed to improve psychological well-being of an animal, including, but not limited to, training and enrichments designed to provide mental and physical stimulation, and (3) the costs of necessary veterinary care for an animal, including, but not limited to , surgeries, medications, vaccinations, euthanasia and disposal costs, as determined necessary by a licensed veterinarian.

“An animal care agency that takes in an animal under section 5 of the PL, c. (C.) (pending before the Legislature as this bill), or an authorized officer of the animal welfare agency, including an attorney prosecuting an animal cruelty violation on behalf of a municipality or county, may, not later than 20 days after the animal is taken into custody, bring an action in Superior Court claiming reimbursement of the animal’s reasonable costs of care for the animal or, if the owner is not known to the claimant, to the person from whom the animal was taken and . . . if the owner of the animal or the person from whom the animal was taken fails to pay a portion of the reasonable costs of care for the animal, as determined by the court, when due, the ownership of the animal is immediately transferred to the animal care agency with custody of the animal.” A2354 (emphasis added).

A pet owner’s inability to pay potentially exorbitant expenses to care for an animal outside of their home should not form the basis for involuntary confiscation of an animal. If the court determines that an owner has failed to provide the animal with “necessary care”, such behavior could be a violation of applicable law which results in monetary penalties and/or imprisonment AND the reimbursement of all expenses for food, drink, shelter, or veterinary care or treatment, or other expenses. . . incurred by any agency, entity or organization investigating the breach. . . [or] a local or state government entity, or a kennel, shelter, pound, or other facility providing housing and care for the animal or animals involved in the violation. NJSA § 4:22-17(f).

With these current arrangements, it is unclear why the proposed additional and draconian financial regime is necessary.

The bill would expressly authorize the following penalties, which are already at the discretion of the court: Upon conviction of the owner for an animal cruelty violation, an animal welfare agency may apply to the court for confiscation of the dog and may enact a period of time until the discretion of the court, detailing the length of time that anyone found guilty of aiding, abetting, or conspiring with the owner in the abuse of dogs shall not be permitted to own a pet or being under the care or control of a dog.

Conversely, if a court determines that the dog was seized and the plaintiff was unable to show by a preponderance of evidence that the dog was taken for his protection or immediate medical attention, the defendant will not be responsible for the reasonable costs of care, but his dog will not be returned until the end of the investigation and the criminal procedure. The defendant would remain responsible for the costs of necessary veterinary care provided, although the bill does not currently allow for an independent veterinarian to determine what care is required.

This bill is problematic since law enforcement officers are responsible for determining an animal’s health status, a determination that is generally beyond the scope of law enforcement. As a result, not all animal seizures made are legally valid. For example, in State v. Dekins A Washington woman’s dogs were seized after neighbors complained that she did not properly confine them. No. 29532-0-III 2012 WL 3861275 (Wash. Ct. App. September 6, 2012). The Washington Court of Appeals overturned his conviction for second-degree animal cruelty. But even though her dogs were returned to her, she still had to pay the cost of care, in her case $22,000, provided by SpokeAnimal, a humane society.

States such as New Hampshire have attempted to address this issue by creating a Cost of Care Fund to cover expenses associated with animal care while an animal cruelty lawsuit is pending. The commissioner of the various state departments may accept donations to care for animals and make the necessary disbursements to pay for necessities. If individuals are found guilty of animal cruelty and are ordered to pay restitution, the payment would be refunded to the ministry that originally awarded the funds. However, if the individual is not found guilty, he will not have to pay a large sum of money to get his animal back.

The constitutionality of some animal seizure laws has been successfully challenged in other states. In Humane Soc. Marshall County vs. Adams, So.2d 150 (1983), the Alabama Supreme Court held that the Alabama Animal Seizure Act was unconstitutional because it violated the due process rights of individuals by allowing officers to – at their sole discretion – seize an animal and deprive an individual of their interest in the animal, while simultaneously finding them liable for treatment costs determined solely by Humane Societies. Other states like Colorado and West Virginia have found similar legislation problematic for similar reasons. See Anderson v. george, 233 SE2d 407, 409 (W.Va.1977); Jenks v. stump, 41 Col. 281, 286–88, 93 pp. 17, 19 (1907).

Animal cruelty is wrong, but accusations of animal cruelty aren’t always valid. Proposed Bill A2354 should be amended to protect pet owners who may be wrongfully or wrongfully charged under the Animal Cruelty Act, but who would be forced to confiscate their animals if they are not unable to pay court-approved care fees by another entity while their animals are not in their care.

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HEALTH: A BRAIN SHORT CIRCUIT – Journal https://kepplah.com/health-a-brain-short-circuit-journal/ Sun, 12 Jun 2022 04:28:32 +0000 https://kepplah.com/health-a-brain-short-circuit-journal/

“I didn’t tell my friends I had epilepsy for fear they would treat me differently,” says Huma*, 21. “I’m always hyper-aware of having a meltdown ahead of them, so I avoid getting into situations that might trigger me, like going to the movies with them or riding a roller coaster,” she adds.

Huma first had a seizure when she was 11 years old, after getting off a ride at an amusement park. Initially, her family thought someone had done black magic on her, but several rounds with religious healers didn’t stop the later outbursts from occurring. The family’s GP referred them to a neurologist. Huma underwent tests on the doctor’s advice and his electroencephalogram (EEG) report identified temporal lobe epilepsy. Her parents then consulted a psychiatrist for regular medication which helped control their daughter’s condition.

Epilepsy is one of the most common neurological disorders, with an estimated 50-60 million people affected worldwide. A chronic neurological condition, epilepsy is characterized by recurrent seizures, with or without opacification or loss of consciousness. Simply put, epilepsy can best be understood as a temporary short circuit in the brain. However, the stigma attached to epileptic seizures is just as widespread as the occurrence of epilepsy. Therefore, people with the disease do not talk about it openly and usually hide their diagnosis even from their closest friends.

About 80% of people with epilepsy are from developing countries, but the treatment rate is surprisingly low. In Pakistan, according to studies, only 27.5% of people with epilepsy in urban areas and 1.9% in rural areas are treated with antiepileptic drugs.

The true nature of epilepsy has long been distorted by myths, fear and misconceptions about the common neurological disorder, leading to stigma and discrimination

The impact of epilepsy is not fully appreciated and understood in our society. This is due to a lack of awareness and outdated beliefs, particularly prevalent in the subcontinent. Epileptic seizures are often perceived as possessions of jinn or black magic. A significant portion of patients, like Huma, are taken to pirs for roohani ilaaj (spiritual healing) rather than to a neurologist or psychiatrist.

There are multiple reasons for the lack of appropriate treatment-seeking behavior for epilepsy in our society. Poverty, illiteracy, lack of knowledge about the disorder, deep-rooted superstitions, and lack of government prioritization are among the main factors. In our society, the disease either remains undiagnosed or is shrouded in secrecy for fear of stigmatization, which would become an obstacle to finding employment or marriage for an epileptic patient.

The mother of a 25-year-old woman with epilepsy says the family hid her daughter’s diagnosis from her daughter’s in-laws because of this very fear. Once, her daughter’s sister-in-law saw her having a fit in her sleep. The very next day she was sent packing and now she is divorced. Cases like these highlight the gross ignorance regarding this neurological disorder and the urgent need to educate the masses about it.

Some mistaken beliefs about epilepsy in our culture are that it has supernatural causes, that it is contagious, that it could lead to other illnesses, and that epileptic patients should not marry.

Zuhair* was not allowed to use a computer growing up, despite his interest. Her parents were told that too much screen time could trigger a seizure. Although this is true for some cases of photosensitive epilepsy, it is not always the case. There are even blue tinted lenses to reduce photosensitive seizures.

Zuhair, now 28 and a web developer, reflects on his condition: “My experience with epilepsy is a little weird because I don’t have seizures often, only once or twice a year. My personal experience has been that it is quite difficult to diagnose the trigger or predict when the next [seizure] what will happen. So this condition constantly keeps you on edge.

From society’s point of view, Zuhair admits that it is quite difficult for her to talk about epilepsy, because people are sometimes insensitive to her condition. “They don’t really understand it and there’s definitely a lack of awareness about how to deal with someone having a seizure,” he says.

“People need to understand that if someone is having a seizure, there’s no way to stop it. The best that can be done is to make sure that the victim does not swallow their tongue or injure themselves.

The diagnosis of epilepsy should not mean that the person becomes disabled; it is a completely manageable condition, and most people with epilepsy are physically healthy between seizures. In fact, according to the World Health Organization, “about 70% of people with epilepsy may be seizure-free if properly diagnosed and treated.”

People with epilepsy are advised to stay physically and mentally active. “Nothing in excess” is good advice for most people with epilepsy, and necessary precautions to avoid seizures should be taken.

Interestingly, epilepsy is one of the oldest documented disorders, with the earliest reports of epilepsy dating back to Assyrian texts dating back to 2000 BCE. Multiple references to epilepsy can be found in ancient texts from all civilizations – primarily in the ancient Greek medical texts in the Hippocratic Collection.

Epilepsy has been associated with influential leaders, intellectuals, and creatives, including Socrates, Julius Caesar, Elton John, and Vincent Van Gogh. Writers like Edgar Allan Poe, Agatha Christie, and Fyodor Dostoyevsky also suffered from this condition, and the onset of seizures has sometimes been linked to outbursts of creativity in writers and artists.

Famously, many characters in Dostoevsky’s stories had epileptic seizures. Dr. Howard Markel in his 2017 column for the PBS NewsHour writes, “The author wrote that he was grateful for his seizure disorder because of the ‘abnormal tension’ the episodes created in his brain, which made him made it possible to feel “unlimited, ecstatic joy and rapture”. devotion and the fullest life.

“Everyone’s journey with epilepsy is unique,” ​​says Amir*. Amir, 41, leads a brilliant career as a corporate lawyer. He is married and the father of two children. When he was five years old, he was diagnosed with epilepsy. He shares that there were entire decades where he didn’t have a single seizure followed by a year where he could have had two or three seizures in the span of six months.

“For me, environmental stressors are important in predicting the frequency of these seizures,” he says. “For example, after losing my mother, I had three seizures in the following months.”

Epilepsy does not affect Amir’s daily tasks, as he adheres to his anti-epileptic medication even in his seizure-free years. However, he makes sure to take certain safety measures, for example, he never drives and, despite being a gamer, he avoids playing VR (virtual reality) games, which have been shown to they trigger seizures in people susceptible to the disease.

In Pakistan, the first famous person to acknowledge his diagnosis of epilepsy was Abdul Sattar Edhi, who publicly announced that he had epilepsy in 2003. His announcement helped motivate people with the condition to realize how they could lead their normal lives but also participate in a physically and mentally rigorous lifestyle like the legendary philanthropist. Throughout his life, Edhi did not let epilepsy get in the way of his work. He continued to be actively involved in his volunteer ambulance network, as well as the orphanages, homeless shelters, rehabilitation centers and animal shelters he ran across Pakistan.

As it is a relatively common disorder in Pakistan, with those affected generally falling under the age bracket of under 30, destigmatization of epilepsy is imperative for our society. Raising awareness of epilepsy as a widespread, non-communicable, and treatable chronic brain disorder is imperative.

The author is an associate clinical psychologist and freelance journalist.

She can be contacted at rabeea.saleem21@gmail.com

Posted in Dawn, EOS, June 12, 2022

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Patient journey to diagnosis of Dravet syndrome https://kepplah.com/patient-journey-to-diagnosis-of-dravet-syndrome/ Fri, 10 Jun 2022 14:11:08 +0000 https://kepplah.com/patient-journey-to-diagnosis-of-dravet-syndrome/

Joseph E. Sullivan, MD: Mary Anne, I would like to speak to you and make you think about what you were told when your son had his first seizures. Does it create flashbacks for you?

Marie-Anne Meskis: Definitely flashbacks. I would agree with Kelly; I think over the last decade we’ve really seen a shift in the typical journey for patients and parents to get to diagnosis. At the time, my son (who is now 22) was not diagnosed until he was 4 years old. At first we were told it was febrile convulsions. Unfortunately, we still have patients who follow the same diagnostic path; if they are not seen by a medical professional who understands what they should be looking for and who does not order genetic testing, it can unfortunately take many years before symptoms progress and they find the right specialists who can help them get to the diagnosis.

Joseph E. Sullivan, MD: With genetic testing, as little as five or six years ago it took a month to get it, but we were still able to make the diagnosis of Dravet syndrome back then. And Kelly, I’m just curious, when did you start saying, “OK, unfortunately I can’t take genetic tests, but I’m convinced you have Dravet syndrome, and here’s why.” ?

Kelly Knupp, MD: I lived in a place where we were very lucky with early genetic testing for a long time. But for our older patients, given that 4, 5, and 6 year olds who may not have had genetic testing, the history of progression from prolonged febrile seizures to multiple types of seizures, sensitivity to the temperature: I think we had great confidence in that. The area where genetic testing has been really helpful has been with these very early crises. It is sometimes difficult to tell the difference between a simple febrile seizure and a febrile seizure associated with Dravet syndrome, especially if it was not a hemiconvulsive seizure. But if I had seen a patient whose first febrile seizure was a right hemiconvulsive seizure and his second febrile seizure was a left hemiconvulsive seizure, I would have been really convinced that it was Dravet syndrome and that we should proceed as if that were the diagnosis.

I’ve seen a number of teenagers who didn’t even see me in the clinic, and they were being walked down the hall by another provider, and that’s also a very characteristic move. I’ve made the diagnosis a handful of times in this setting as well, where I’ve seen someone walking down the hall, and we’ve been able to untangle the story and make that diagnosis. I think there are some key features that are very unique to Dravet syndrome.

Joseph E. Sullivan, MD: We will dwell on it a little more here. I also have a poignant story from one of my patients. This was at a time when I was following about 25 or 30 Dravet syndrome patients. I brought in a family, there was a newspaper article about a patient of mine who had Dravet syndrome. This patient was 17 years old and I inherited her in this office when I started my job. In the table, it was just written: “refractory epilepsy, cause unknown”. She said, “Why couldn’t you know my daughter had Dravet syndrome”? I said, “She didn’t have these seizures alternating with fever.” And she said, “Yes, she did. The story continues, even as I tell the story, the hair is standing on the back of my neck, because I knew she was right. I didn’t even need the genetics. I said, “You have Dravet syndrome, and I look you in the eye, and I missed it.” I think having this understanding of the different stages of the syndrome and how it evolves over time is certainly helpful for us as we talk to families in terms of what we can perhaps anticipate.

In terms of adults with Dravet syndrome, and it is certainly underdiagnosed. I often think that there are hundreds, if not thousands, of Dravet patients sitting in our very well-meaning, reputable, and brilliant adult epilepsy clinics. They don’t have the luxury of having this story from early childhood. I wonder, Mary Anne, both in your parenting and in your involvement with the Dravet Syndrome Foundation, what stories do you hear about this journey that different families have been on?

Marie-Anne Meskis: With our adults, it’s often the parents who keep pushing for answers. For families, they often come to a point, I don’t mean complacency, but they feel comfortable managing crises or providing the best quality of life possible, and they don’t necessarily think that a diagnosis is important. Sometimes I think doctors feel the same way that if patients are in a much better position than they were before, why are we still looking for an answer?

I agree with you that we have a lot of patients who are either misdiagnosed, maybe with LGS or some other syndrome, or just diagnosed with idiopathic epilepsy. The detriment to our community, of course, is that, for example, since 2018 we have brought to market 3 new treatments for Dravet syndrome. Here is an opportunity that could allow us to improve the quality of life of these patients. I’ve also heard of parents who continued to push for testing, and after finally getting testing and a diagnosis, they may have had a child on contraindicated Dravet Syndrome medication for many years. I think there’s a challenge, and I think we still need to work to educate our adult providers about the importance of getting a diagnosis and making sure they know this test is available and that it’s available. is significantly less expensive than it was in the past, as it has long been a hindrance for our families.

Joseph E. Sullivan, MD: Absolutely. There’s obviously some value in having an accurate and specific diagnosis, not just for treatments, as you said, but just the sense of community, to be able to reach out to other parents who are living with the same daily struggles. I saw so much value in that. I used to have patients sent to me, refractory epilepsy or someone having genetic tests and they thought maybe it was Dravet or Lennox-Gastaut, and they came second. But now, thankfully, thanks to the Behind the Seizure program, and at least the interest in doing early genetic testing, now these patients are being diagnosed earlier and coming to our centers with that diagnosis in hand, so that we can then get through with advise them of the next steps in treatment.

Transcript edited for clarity

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