Is cardiac death death?

Arizona police have recommended felony child abuse charges against the parents of an 18-month-old boy who investigators say nearly drowned after they admitted using marijuana and failed to properly supervise him during a Super Bowl party earlier this year. The child later drew national attention after he was mistakenly declared dead before being found alive hours later in a hospital morgue.

The Maricopa County Attorney's Office is reviewing the Gilbert Police Department's recommendation that Vincent Fiordilino's parents face felony child abuse charges, according to AZFamily. No charges have been filed.

Investigators say Vincent disappeared from his parents' view during the gathering before guests found him floating face down in a backyard swimming pool. According to a police report obtained by AZFamily, both parents later admitted to smoking marijuana during the party. The report alleges Vincent's fall into the pool went unnoticed because both parents were impaired by marijuana and/or other mind-altering substances.

After Vincent was pulled from the water, first responders transported him to Mercy Gilbert Medical Center, where a doctor pronounced him dead that evening, according to police. The case took an extraordinary turn hours later when medical personnel discovered the toddler was alive and breathing after he had already been transferred to the hospital's morgue around 7:23 p.m., according to police. Vincent was immediately airlifted to Phoenix Children's Hospital for treatment.

The police report alleges responding officers and Vincent's parents questioned whether the toddler had actually died before he was pronounced dead, saying they believed he was still showing signs of life. Hospital staff reportedly told them Vincent was exhibiting agonal breathing, an involuntary reflex that can occur near death.

According to the report, a nurse later reported detecting a pulse after the child had been pronounced dead. Detectives allege the physician who made the initial determination maintained his assessment was correct and instructed hospital staff to stop lifesaving measures despite concerns from Vincent's parents and responding officers that the toddler still appeared to be breathing. Police did not recommend criminal charges against the physician, according to AZFamily.

According to AZFamily, a Dignity Health spokesperson said the hospital conducted a review following the incident.

"This is a heartbreaking situation. We immediately conducted a thorough review of all aspects of the care that was provided to learn what happened and to make meaningful changes to strengthen our care," the spokesperson said in a statement. "Out of respect for the patient's privacy, we cannot discuss details. We continue to work with the family and their representative. Patient safety and exceptional care is our highest priority."

A GoFundMe campaign created for the family described Vincent as a "miracle baby" after he survived the ordeal.

"Vincent was declared deceased," the fundraiser says. "His devastated parents were sent home in unimaginable grief. But God had other plans. A little after 11:30 p.m., the family received a call no one expected: the medical examiner had detected a faint heartbeat."

According to the fundraiser, Vincent's kidneys, lungs and liver began shutting down after he arrived at Phoenix Children's Hospital. An MRI initially identified two small areas of potential brain damage, but later testing reportedly found no brain damage. The fundraiser says Vincent continues to require extensive therapy, ongoing medical monitoring and treatment as he recovers.

Fox News Digital has reached out to the Maricopa County Attorney's Office, Gilbert Police Department, Mercy Gilbert Medical Center and Phoenix Children's Hospital for comment.

Brittany Miller

https://www.foxnews.com/us/toddler-declared-dead-after-near-drowning-found-alive-hospital-morgue-hours-later-police-say

Human rabies

An 11-year-old boy died of a rabies infection in Ontario, Canada, according to a medical journal article published Monday.

The Canadian Medical Association Journal did not identify the boy or his family but wrote that he was first brought to a hospital weeks after an encounter with a bat.

"The patient’s family reported that, during a visit to a cottage in northern Ontario 19 days before symptom onset, the boy had been awoken by a bat on his nose and mouth. He had swatted the bat off his face; his father had caught the bat in a cooking pot and released it outside," CMAJ wrote.

"The child had no visible lesions on his face, and his parents did not consider that the bat had behaved erratically. Therefore, they did not seek medical assessment," the journal noted.

The boy was ultimately admitted to a hospital 20 days after the encounter with the bat, when his parents brought him to an emergency room. He was first sent home but then brought back the following morning and admitted to the hospital.

Doctors noted that the boy's condition "rapidly worsened" by the evening, but he spent more than two weeks in the hospital before dying.

"By day 5 of admission, his brainstem reflexes were absent. Life-sustaining therapies were withdrawn on day 17 of admission, and he died peacefully with his family at his bedside," the journal article said.

Doctors who authored the article warned that any direct human contact with a bat, even in the absence of a visible bite or scratch, should be discussed with public health authorities.

Rabies is almost always fatal in humans if not treated quickly with postexposure prophylaxis, or PEP. The treatment is nearly always successful if administered promptly after exposure.

Anders Hagstrom

https://www.foxnews.com/world/11-year-old-dies-rabies-bat-landed-face-sleeping

Padmaja Sreeram, Neha Saini, Karen Choong, Ellery Cunan, Alan C. Jackson, Jeffrey M. Pernica

and Brian Hummel. Fatal rabies in a child. CMAJ June 29, 2026 198(25) E969-E972;
DOI: https://doi.org/10.1503/cmaj.251933

TMEM63B mutations; developmental and epileptic encephalopathy 118

Inspired by a patient

Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. PMID: 37421948; PMCID: PMC10432263.

Abstract

By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological mechanisms underlying associations of stretch-activated ion channels with human disease is limited. Here, we describe 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes carrying ten distinct heterozygous variants of TMEM63B, encoding for a highly conserved stretch-activated ion channel. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense, including the recurrent p.Val44Met in 7/17 individuals, or in-frame, all affecting conserved residues located in transmembrane regions of the protein. In 12 individuals, hematological abnormalities co-occurred, such as macrocytosis and hemolysis, requiring blood transfusions in some. We modeled six variants (p.Val44Met, p.Arg433His, p.Thr481Asn, p.Gly580Ser, p.Arg660Thr, and p.Phe697Leu), each affecting a distinct transmembrane domain of the channel, in transfected Neuro2a cells and demonstrated inward leak cation currents across the mutated channel even in isotonic conditions, while the response to hypo-osmotic challenge was impaired, as were the Ca2+ transients generated under hypo-osmotic stimulation. Ectopic expression of the p.Val44Met and p.Gly580Cys variants in Drosophila resulted in early death. TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurological phenotype with progressive brain damage and early-onset epilepsy associated with hematological abnormalities in most individuals.

_______________________________________________________________

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 118; DEE118

INHERITANCE

- Autosomal dominant

HEAD & NECK

Eyes

- Cortical visual impairment
- Nystagmus

RESPIRATORY

- Apneic episodes, neonatal

ABDOMEN

Liver

- Hepatomegaly

Spleen

- Splenomegaly

Gastrointestinal

- Dysphagia
- Tube-feeding (in some patients)

SKELETAL

Skull

- Thickening of the trabecular (spongy) bone of the skull (in some patients)

SKIN, NAILS, & HAIR

Skin

- Jaundice (in some patients)

NEUROLOGIC

Central Nervous System

- Epileptic encephalopathy
- Seizures, refractory
- Focal seizures with impaired awareness
- Tonic seizures
- Bilateral tonic-clonic seizures
- Infantile spasms
- Febrile seizures
- Myoclonic seizures
- Status epilepticus (in some patients)
- Global developmental delay, moderate to profound
- Hypotonia
- Spastic quadriparesis
- Inability to walk
- Ataxic gait
- Impaired intellectual development, moderate to profound
- Absent speech (in most patients)
- Background slowing seen on EEG
- Multifocal epileptiform discharges
- Hypsarrhythmia (in some patients)
- Delayed myelination seen on brain imaging
- White matter abnormalities
- Thin corpus callosum
- Enlarged lateral ventricles
- Dysmorphic lateral ventricles
- Cortical atrophy
- Cerebellar atrophy

HEMATOLOGY

- Macrocytic anemia (in most patients)
- Blood transfusions (in some patients)
- Hemolysis

LABORATORY ABNORMALITIES

- Hyperbilirubinemia

MISCELLANEOUS

- Onset at birth or within the first months or years of life
- Most individuals have profound developmental delay
- Progressive disorder
- De novo mutation

MOLECULAR BASIS

- Caused by mutation in the transmembrane protein 63B gene (TMEM63B, 619952.0001)

https://www.omim.org/clinicalSynopsis/621250

In case you wanted to know

How many of Woody Guthrie's children get Huntington's disease?

AI Overview

Woody Guthrie had eight children across three marriages, and two of his children inherited and died from Huntington's disease.

The specific details regarding his children's health include:

Sue and Gwen Guthrie: Both daughters from his first marriage to Mary Jennings developed and passed away from Huntington's disease in their early forties. (A third sibling from this marriage, Bill, died in a car accident at age 23).

Arlo and Nora Guthrie: His well-known children from his second marriage to Marjorie Guthrie were born with a 50/50 chance of inheriting the disease. Both declined to be tested, but neither has developed symptoms.

Joady Guthrie: Woody’s other son with Marjorie Guthrie was tested and received a negative result.

Because Huntington's is a hereditary, autosomal dominant neurodegenerative disorder, Woody Guthrie's mother passed it to him, and it ultimately claimed the lives of both his oldest daughters.

Google AI

Marriage and family

At age 20, Guthrie met and married his first wife, Oklahoma-born Mary Jennings (1917–2014), in Texas in 1931. They had three children together: Gwendolyn, Sue, and Bill. Bill died at the age of 23 as the result of an automobile accident in Pomona, California. The daughters both died of Huntington's disease at the age of 41, in the 1970s. Evidently the disease had been passed on from their father, although Guthrie himself was diagnosed with the condition later in life, in 1952, when he was 43 years old. Guthrie and Mary divorced sometime between 1943 and 1945.

On November 13, 1945, Guthrie married Marjorie Greenblatt. They had four children: sons Arlo and Joady and daughters Nora and Cathy. After Guthrie was admitted to Brooklyn State Hospital in 1952, doctors advised Marjorie to divorce him and take custody of the children because of Woody's raging paranoia and occasional violent acts against family members. They were divorced in 1953. Despite the divorce, she remained close to Woody for the rest of his life and supervised all of his complex health needs.

After his discharge from the hospital, Guthrie had a romantic relationship with Anneke van Kirk from late 1952, marrying her in 1953 and having a daughter, Lorinna Lynn. However, due to his deteriorating condition, this relationship led to their divorce just one year later. Guthrie had a total of eight children over his three relationships.

Wikipedia

When you hear the sound of hoofbeats

Doctors thought a 60-year-old man had metastatic brain cancer after scans revealed multiple tumors – but further testing revealed a shocking diagnosis.

The Spanish man, who was not named, was found to have a parasitic tapeworm larvae lodged in his brain — a case of neurocysticercosis, a parasitic infection of the central nervous system caused by the pork tapeworm (Taenia solium).

The patient, a lifelong resident of Castellón, Spain, had not traveled to any regions where the disease is endemic, according to the case report published in the CDC journal Emerging Infectious Diseases.

The man had initially come to the hospital after suffering two weeks of progressive headaches and mild behavioral changes.

CT scans showed multiple abnormal spots that looked like tumors that had spread from cancer elsewhere in the body, leading doctors to suspect advanced brain cancer.

However, whole-body scans, a colonoscopy and specialized imaging failed to identify cancer anywhere in the patient's body, the case report stated.

When doctors performed a more detailed MRI, they discovered several fluid-filled cysts in the brain, some of which contained the head of a tapeworm. A blood test confirmed the diagnosis of neurocysticercosis.

Radiologic findings from a study of autochthonous neurocysticercosis brain lesions mimicking metastatic disease. (Emerging Infectious Diseases)

The man was treated with a combination of albendazole and praziquantel (two antiparasitic medications), as well as corticosteroids to reduce inflammation. He successfully recovered with no complications, according to the case report.

The authors suggested that the patient may have gotten the infection after accidentally ingesting microscopic tapeworm eggs years earlier.

The exposure may have occurred while working a construction job with migrant coworkers from regions where neurocysticercosis is endemic.

People can catch the pork tapeworm in two different ways. Eating undercooked infected pork usually leads to an intestinal tapeworm, but accidentally swallowing the parasite's eggs — typically through food or water contaminated with feces — can send the larvae into the bloodstream, where they may form cysts in the brain and other organs. This can cause the disease the patient in the case report acquired.

As this was just a single case, the source of transmission could not be proven, the researchers acknowledged, and the findings cannot be generalized to a wider population. The report shows that there is a possibility of local transmission in non-endemic settings, but cannot establish how often this occurs.

In the United States, less than 2% of neurocysticercosis cases are considered domestically acquired, according to the case report.

A prior systematic review identified only 18 confirmed locally acquired cases in Western Europe between 1990 and 2011.

In some cases, NCC can cause serious symptoms, including seizures, stroke, neurological deficits and cognitive decline.

"Our case emphasizes that the absence of travel history should not preclude NCC from the differential diagnosis of multiple ring-enhancing brain lesions, even in regions where metastatic cancer is statistically much more likely," the researchers concluded in the case study.

Detecting the worms earlier could have prevented "unnecessary invasive oncologic procedures and led to prompt, targeted antiparasitic therapy," they added.

Melissa Rudy

https://www.foxnews.com/health/doctors-thought-man-brain-cancer-found-live-tapeworms-instead

Squirmy and Grubs

 "Squirmy and Grubs" is a highly popular YouTube channel run by Shane Burcaw and Hannah Aylward. The couple documents the realities of their "interabled" marriage—Shane has Spinal Muscular Atrophy, a severe muscle-wasting disease, and uses a wheelchair, while Hannah is able-bodied. Their content combines humor and education to confront misconceptions about disability, intimacy, and relationships. 

About the Couple

Shane Burcaw: An award-winning author and disability advocate. He previously founded the nonprofit Laughing At My Nightmare.

Hannah Aylward: A sociology and anthropology graduate who manages the filming and editing for their vlog.

The Relationship: They began dating in 2016 and were married in September 2020. Because of societal prejudices, their interabled relationship frequently faces scrutiny, with strangers often mistaking Hannah for Shane's nurse.

Books and Advocacy Beyond vlogging, 

Shane and Hannah are active public speakers and authors. They co-authored the book Interabled: True Stories About Love and Disability, which highlights the stories of multiple couples and pushes back against the ableist notion that disabled individuals cannot be equal or romantic partners. 

https://www.youtube.com/c/squirmyandgrubs

We are Hannah and Shane, aka Squirmy and Grubs, and we share our love story with the world in hopes of changing the way society thinks about disability. Far too often, our relationship is perceived by others as remarkable, bizarre, tragic, and unrealistic, but these perceptions originate from a flawed—and extremely damaging—understanding of disability. If one takes the time to look a little deeper, they’ll see that our relationship is really no different than any other. Below is a short recap of our love story, and we’d love nothing more than to bring our story and message to your classroom, workplace, or event!

The Early Days

If anything is exceptionally unique about our story, it’s the unlikely circumstances that brought us together. Shane was living in Pennsylvania working as an author and a nonprofit executive in the disability sector. Hannah was living in Minnesota and studying sociology at Carleton College. One fateful night, Hannah stumbled upon a documentary that had been produced about Shane’s life. She connected with his interests and his humor, so she shot him an email to say hello. To this day, Hannah maintains that her email was a result of late-night exam-cramming delusions. Regardless, we struck up a conversation the next day, and it turned out we DID have a lot in common, from our adoration of traveling to our extreme enjoyment of trying delicious new foods.

In the weeks to follow, we became inseparable, which is ironic considering the 1000+ miles that separated us. We texted and FaceTimed constantly, and very quickly we realized there was a serious spark between us. A few months later, Hannah flew to PA for our first-ever in-person meeting, which Shane inaugurated by arriving an hour late at the airport to pick her up. His lateness did not stop her from saying “Yes” when Shane ~officially~ asked her out the next day.

Over the next two years, we trudged through a long-distance relationship that was both extraordinarily happy and distressingly hard. Thankfully, we had many visits in-person during those two years, and those trips included some unforgettable (and ridiculous) memories. During those years, Hannah learned the nuances of Shane’s daily care. More importantly, we learned that we truly enjoyed each others‘ company, and both of us wanted nothing more than to be together all the time.

The YouTube Channel

After two years of long distance, our desire to be closer became overwhelming. Shane packed up his belongings and made the move to Minneapolis, where we got an apartment together while Hannah finished her senior year of college. Hannah became Shane’s primary caregiver, which often alarms those who are new to our story. So much sacrifice! So much hardship for a young woman! Actually, those ideas can’t be farther from the truth, and one of our favorite speaking topics is how we combine caregiving with intimacy in our relationship.

A few months after moving in together, we had the silly little idea to start a YouTube channel together. We were doing some upcoming travel, and traveling with a disability is always rife with challenges, so we figured we should document it in our humorous tone. We named our channel Squirmy and Grubs, which are the (slightly embarrassing) nicknames that we gave each other early in our relationship. We never expected the channel to take off in the way that it did.

After doing a viral interview with a large YouTuber called Special Books By Special Kids, our channel quickly began to gain hundreds of thousands of followers. We started getting constant calls from talk shows wanting to feature us, national brands wanting us to represent their products, and thousands of emails each week from people connecting with our story. We were thrust into the forefront of disability activism, and although we didn’t expect it, we certainly honored the opportunity. We decided to put everything we had into improving the way society understands disability.

The Future

The rise of Squirmy and Grubs began in January 2019 and so much has happened since then. We got engaged in June of 2019 and bought a house together in November of that same year. Throughout 2019 and 2020 we performed dozens of speaking engagements all over the world, from universities with thousands of audience members to elementary schools via Zoom (thanks, COVID-19). We’ve partnered with many leading businesses to amplify diversity and inclusion in their workplaces. We were even asked to co-author a book about relationships and disability (Interabled: Love Stories - coming to a book store near you in 2022).

In everything that we do, our goal is to normalize the disability experience. We strive to educate while we entertain. Both of us bring boatloads of love and passion to our presentations, and we believe your audience will love laughing and learning with us!

Book us today!

https://www.squirmyandgrubs.com/more-about-squirmy-and-grubs

Diagnostic genetic findings from exome sequencing in a cohort of 1,109 children with epilepsy

Wu F, Ji X, Cheng P, Zhao S, Feng S, Liu W, Chen J, Zhang X, Wang H, Chen Q. Diagnostic Genetic Findings From Exome Sequencing in a Cohort of 1,109 Children With Epilepsy. Neurol Genet. 2026 May 14;12(3):e200387. doi: 10.1212/NXG.0000000000200387. PMID: 42158268; PMCID: PMC13182736.

Abstract

Background and objectives: Genetic testing has emerged as a transformative tool for the diagnosis and treatment of epilepsy. The aim of this study was to characterize the genetic basis of pediatric epilepsy.

Methods: We analyzed a cohort of 1,109 children with epilepsy who underwent whole-exome sequencing. Genetic findings were interpreted based on medical records and genetic testing results.

Results: Genetic diagnostic results were found in 405 of 1,109 patients, with a diagnostic yield of 36.5%. The SCN1A (40/1,109, 3.6%) was the most frequently affected gene, followed by the PRRT2 (26/1,109, 2.3%) and SCN2A (10/1,109, 0.9%). In total, 138 genes were identified with 337 total detections. Gene ontology analysis revealed enrichment in ion channel-related genes (30.0%, 101/337), catalytic activity-related genes (19.6%, 66/337), and pathway-related genes (14.5%, 49/337). Multivariate logistic regression showed that younger age at onset (OR = 0.87, 95% CI 0.81-0.94, p < 0.001), developmental delay or intellectual disability (OR = 2.25, 95% CI 1.62-3.12, p < 0.001), and facial dysmorphisms (OR = 2.30, 95% CI 1.06-5.00, p = 0.036) were associated with a higher likelihood of achieving a genetic diagnosis. Negative results were obtained in 51.4% (570/1,109) of patients.

Discussion: This single-center study provides a comprehensive overview of the genetic landscape of pediatric epilepsy, enhancing our understanding of the genetic basis and offering insights for clinical diagnosis and genetic counseling. These findings underscore the clinical utility of genetic testing in pediatric epilepsy.