Inositol 1,4,5-triphosphate receptor type 1 (ITPR1) is an endoplasmic reticulum–bound intracellular inositol triphosphate receptor involved in the regulation of intracellular calcium. Pathogenic variants in ITPR1 are associated with spinocerebellar ataxia (SCA) types 15/16 and 29 and have recently been implicated in a facial microsomia syndrome. In this report, we present a family with three affected individuals found to have a heterozygous missense c.800C > T (predicted p.Thr267Met) who present clinically with a SCA29-like syndrome. All three individuals presented with varying degrees of ataxia, developmental delay, and apparent intellectual disability, as well as craniofacial involvement—an uncommon finding in patients with SCA29. The variant was identified using clinical exome sequencing and validated with Sanger sequencing. It is presumed to be inherited via parental germline mosaicism. We present our findings to provide additional evidence for germline mosaic inheritance of SCA29, as well as to expand the clinical phenotype of the syndrome.

Pilocytic astrocytomas are the most common pediatric brain tumors, typically presenting as low-grade neoplasms. We report two cases of pilocytic astrocytoma with atypical tumor progression. Case 1 involves a 12-yr-old boy with an unresectable suprasellar tumor, negative for BRAF rearrangement but harboring a BRAF p.V600E mutation. He experienced tumor size reduction and stable disease following dabrafenib treatment. Case 2 describes a 6-yr-old boy with a thalamic tumor that underwent multiple resections, with no actionable driver detected using targeted next-generation sequencing. Whole-genome and RNA-seq analysis identified an internal tandem duplication in FGFR1 and RAS pathway activation. Future management options include FGFR1 inhibitors. These cases demonstrate the importance of escalating molecular diagnostics for pediatric brain cancer, advocating for early reflexing to integrative whole-genome sequencing and transcriptomic profiling when targeted panels are uninformative. Identifying molecular drivers can significantly impact treatment decisions and improve patient outcomes.

PURPOSE

Meeting scholarly activity requirements continues to be a challenge in many family medicine (FM) residency programs. Studies comprehensively describing FM resident scholarship have been limited. We sought to identify institutional factors associated with increased scholarly output and meeting requirements of the Accreditation Council for Graduate Medical Education (ACGME).

PURPOSE

Despite being key to better health outcomes for patients from racial and ethnic minority groups, the proportion of underrepresented in medicine (URiM) physicians remains low in the US health care system. This study linked a nationally representative sample of family physicians (FPs) with Medicaid claims data to explore the relative contributions to care of Medicaid populations by FP race and ethnicity.

PURPOSE

Currently, 40% of counties in the United States do not have an obstetrician or midwife, and in rural areas the likelihood of childbirth being attended to by a family medicine (FM) physician is increasing. We sought to characterize the effect of the FM presence on unit culture and a key perinatal quality metric in Iowa hospital intrapartum units.

The respiratory literature, both written and in online formats, is growing exponentially. Capturing quality content, to meet the learning needs of those working in all fields of respiratory medicine and delivering it in a palatable, accessible format is challenging but paramount. In this article we discuss ways to determine the information content and review different methods of delivering this content to those who need it.

A new report by the global union Education International shows that AI can degrade the quality of education, worsen working conditions for teachers and provide inferior schooling for students.

The post Artificial Intelligence can cause fake education appeared first on rabble.ca.

New research to better understand the biological factors of suicidal behaviour Researchers at the University of Glasgow are embarking on two new PhD projects to better understand the impact that biological factors may have on suicidal behaviour.

Anna Marie Privitere gets de-wormed but has to tell Chris to stop helping. Phil Willis is not at all biased about musous. Kelley Ryan is all about the DMCAs. But Alex Fuller saw all of this coming.

The post RPG Cast – Episode 566: “Unsolicited Dik-Dik Pics” appeared first on RPGamer.

Astronomer Jo Dunkley is planning to use the Simons Observatory to snare evidence for inflation, the theory that the universe expanded at incredible speed after its birth

How did the supermassive black holes we’re now seeing in the early universe get so big so fast? Astrophysicist Sophie Koudmani is using sophisticated galaxy simulations to figure it out

Between 2005 and 2021, Facebook, Twitter and YouTube were more likely to make policy changes in the weeks after negative stories in the media

Artificial intelligence has more in common with ants than humans, says Neil Lawrence. Only by taking a more nuanced view of intelligence can we see how machines will truly transform society

A US standards agency has issued new guidance saying organisations shouldn’t require users to change their passwords periodically – advice that is backed up by decades of research

Unknown host Charlie Stone analyzes Trump's unprecedented victory with Obama Homeland Security Secretary, Jeh Johnson

As artificial intelligence becomes more common in university classrooms, some professors are weighing the benefits — and downsides — of students using it for research projects.

People keep predicting that each wave of new technology will mean humans can put their feet up. It hasn't happened yet. Some economists and anthropologists who study the subject say even with the arrival of artificial intelligence, humans will remain integral to making the world go round.

A pediatrician, author and co-inventor of a low-cost COVID-19 vaccine warns that the anti-vaccine movement has morphed into a political force that threatens the world's gains against deadly childhood infections like measles.

Local officials are beginning to certify the results of this year's presidential election in a process that, so far, has been playing out quietly, in stark contrast to the tumultuous certification period four years ago that followed then-President Donald Trump's loss.

President-elect Donald Trump on Tuesday announced that Tesla founder Elon Musk and businessman Vivek Ramaswamy will a new Department of Government Efficiency, a White House office given the task of cutting the federal budget.

A comet that has not been seen for more than 80,000 years is expected to be visible from Earth, potentially during two separate time periods in the next month.

An accurate description of low-density nuclear matter is crucial for explaining the physics of neutron star crusts, according to a team of theoretical physicists led by Argonne National Laboratory’s Dr. Alessandro Lovato.

The post Physicists Find Evidence for Superfluidity in Low-Density Neutron Matter appeared first on Sci.News: Breaking Science News.

Mosquito larvae die after consuming hemp leaves because they react strongly to the cannabidiol in the foliage. The discovery might lead to the development of a new pesticide to control mosquito numbers

The 2024 Nobel prize in physiology or medicine has gone to Victor Ambros and Gary Ruvkun for their discovery that tiny pieces of RNA called microRNAs play a key role in controlling genes

President-elect Trump announced that billionaire Elon Musk and former GOP presidential candidate Vivek Ramaswamy will lead the Department of Government Efficiency.

Montana public health officials are investigating an outbreak of infections caused by Salmonella. The Cascade City-County Health Department in Great Falls is reporting that six students at Sacajawea and Valley View elementary schools have tested positive for the pathogen. A staff member at another school has also tested positive. There... Continue Reading

With no conclusive laboratory results, researchers are turning to other methods to find the elusive substance

From the busy cities to ocean waters, our need to illuminate the world has had some strange and tragic consequences

Operation Synergia II took aim at phishing, ransomware, and information stealing.

President-elect Donald Trump has made many selections to lead his administration as his transition gets underway, ranging from chief of staff to head of the Environmental Protection Agency (EPA). At the same time, a number of crucial positions have yet to be filled just one week removed from the landslide election.

The post Donald Trump’s Administration Takes Shape After 15 Official or Expected Picks appeared first on Breitbart.

President-elect Donald Trump announced he has picked Tesla CEO and X owner Elon Musk and entrepreneur and former Republican presidential candidate Vivek Ramaswamy to "lead the Department of Government Efficiency."

The post Donald Trump Selects Elon Musk, Vivek Ramaswamy to ‘Lead the Department of Government Efficiency’ appeared first on Breitbart.

The announcement was made in a video unveiled at Disney’s D23 event in Brazil, featuring the returning stars in a reveal

President-elect Trump announced a "Department of Government Efficiency," or DOGE, that will be led by Tesla CEO Elon Musk and entrepreneur Vivek Ramaswamy, focused on shrinking the federal government.

Amazon is reportedly developing smart glasses for its delivery drivers, according to sources who spoke to Reuters. These glasses are intended to cut “seconds” from each delivery because, well, productivity or whatever. Sources say that they are an extension of the pre-existing Echo Frames smart glasses and are known by the internal code Amelia.

These seconds will be shaved off in a couple of ways. First of all, the glasses reportedly include an embedded display to guide delivery drivers around and within buildings. They will allegedly also provide drivers with “turn-by-turn navigation” instructions while driving. Finally, wearing AR glasses means that drivers won’t have to carry a handheld GPS device. You know what that means. They’ll be able to carry more packages at once. It’s a real mitzvah.

I’m being snarky, and for good reason, but there could be some actual benefit here. I’ve been a delivery driver before and often the biggest time-sink is wandering around labyrinthine building complexes like a lost puppy. I wouldn’t have minded a device that told me where the elevator was. However, I would not have liked being forced to wear cumbersome AR glasses to make that happen.

To that end, the sources tell Reuters that this project is not an absolute certainty. The glasses could be shelved if they don’t live up to the initial promise or if they’re too expensive to manufacture. Even if things go smoothly, it’ll likely be years before Amazon drivers are mandated to wear the glasses. The company is reportedly having trouble integrating a battery that can last a full eight-hour shift and settling on a design that doesn’t cause fatigue during use. There’s also the matter of collecting all of that building and neighborhood data, which is no small feat.

Amazon told Reuters that it is “continuously innovating to create an even safer and better delivery experience for drivers” but refused to comment on the existence of these AR glasses. "We otherwise don’t comment on our product roadmap,” a spokesperson said.

The Echo Frames have turned out to be a pretty big misfire for Amazon. The same report indicates that the company has sold only 10,000 units since the third-gen glasses came out last year.

President-elect Donald Trump has named Elon Musk as the leader of a new “Department of Government Efficiency," that will “dismantle Government Bureaucracy, slash excess regulations, cut wasteful expenditures, and restructure Federal Agencies.” The Tesla CEO and owner of X will spearhead the effort along with former presidential candidate Vivek Ramaswamy, Trump announced in a statement on Truth Social.

The scope of the role isn’t exactly clear. Trump’s press release said that “the Department of Government Efficiency will provide advice and guidance from outside of Government, and will partner with the White House and Office of Management & Budget to drive large scale structural reform, and create an entrepreneurial approach to Government never seen before.” It also stated that “their work will conclude no later than July 4, 2026.”

Musk shared the news on X, but didn’t indicate how the role might impact his obligations at his various other companies. Musk, who poured millions of dollars into Super Pac boosting Trump’s campaign, has previously talked about his desire to work with Trump to cut government spending. He did, however, joke about potential "merch" for the operation. "Republican politicians have dreamed about the objectives of 'DOGE' for a very long time," Trump's statement said. 

Un avocat de Laval épinglé pour son compteur d’Hydro-Québec trafiqué qui lui a fait économiser près de 27 000$ d’électricité devra payer une amende.