Mobile AI Tool Expands Access to Prenatal Ultrasonography

A portable AI tool can estimate the age of an unborn baby from scans as well as trained sonographers, potentially extending access to vital prenatal ultrasonography where it might not otherwise be available.

The findings, in JAMA Network Open, reveal the potential of artificial intelligence to expand access to diagnostic tasks such as ultrasonography using novice operators in low-resource settings.

An AI model trained on blind sweep ultrasonography scans performed as well as traditional sonographers on estimating gestational age when used by novice operators across diverse geographical and infrastructural contexts, with minimal fine tuning.

“This system could mitigate disproportionate maternal or fetal comorbidity in low-resource areas by providing access to an essential clinical tool, serving as a template for automating and democratizing other ultrasonography-based diagnostics in future obstetric work,” reported Ryan Gomes, PhD, from Google in California, and co-workers.

Determining gestational age is a fundamental component of prenatal care, allowing obstetric care that can include life-saving interventions to prevent pre- and post-term births and manage high-risk conditions.

But while traditional ultrasonography is recommended by the World Health Organization, it requires skilled sonographers and expensive equipment that may not be available, particularly in low-resource settings.

AI using low-cost portable devices offer a potentially accessibly alternative, with blind sweep ultrasonography—a set of protocolized sweeps that does not rely on real-time imaging interpretation—emerging as a particularly promising approach.

However, clinical sites vary significantly in workflow, staffing, patient demographics, and equipment, which could affect the accuracy of AI-based assessment.

Gomes and team therefore examined the value of an AI tool to estimate gestational age from blind sweep ultrasonography scans across a variety of settings.

The AI-based system was originally trained on data from suburban North Carolina and urban Zambia and validated in a Chicago urban academic center and a Kenyan urban clinic using a different portable probe.

The broader cohort included 2043 participants—consisting of 1008 in Chicago and 1035 in Nairobi.

Fine-tuning using 180 examinations from 120 Chicago participants—approximately 6% of original training size, split evenly for training and validation—targeted generalization to new hardware and gestational-age distributions.

The primary evaluation set of 385 participants—192 in Chicago and 193 in Nairobi—had gestational ages from 16 to 36 weeks.

The researchers found that the AI model effectively generalized to new clinical environments and institutions, achieving a mean absolute error of 4.2 days that was noninferior to the clinical standard.

Its robust performance in Nairobi, with a mean absolute error of 4.3 days without local-tuning mirrored results in Chicago, where this mean error was 4.1 days and underscored the model’s inherent adaptability and transfer-learning efficacy.

These mean absolute errors with the adapted model were similar to the standard of care.

“The lower sweep rejection rate in the Nairobi setting (1.8% vs 7.9% in Chicago) may suggest that approximately six hours of formal, interactive, hands-on training improves acquisition quality compared with informal and written instruction,” the authors noted.

Nonetheless, they conclude overall: “This generalizable accuracy, achieved with low-cost probes, represents an important step toward World Health Organization–recommended scalable prenatal implementation.”

The post Mobile AI Tool Expands Access to Prenatal Ultrasonography appeared first on Inside Precision Medicine.

Outbreak of diarrhea-causing parasite grows to more than 1,000 cases

NEW YORK — Nearly 1,000 people in Michigan have been diagnosed with a parasitic infection that can cause weeks of watery diarrhea, making it the largest such outbreak in state history and one of the nation’s largest in years.

No deaths have been reported and the source of the cyclospora infections hasn’t been identified. Meanwhile, investigations into similar illnesses have been going on in 28 other states, including in Ohio, where people just across the Michigan border are also becoming sick.

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STAT+: ARPA-H launches $160 million effort to develop custom gene editing drugs

ARPA-H, the U.S.’ “moonshot” agency for health research, announced Thursday that it will spend up to $160 million to push forward custom gene editing treatments for a spate of rare diseases. 

The program, called THRIVE, will back seven different teams pursuing various groups of conditions affecting different organ systems. 

Each team has a deadline of starting clinical trials by year three of the program, although some may start much sooner.  

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STAT+: FDA finalists under review

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I’m only just learning about the Norse soccer god Erling Haaland, who lives on copious amounts of organ meat and raw milk. Send news tips and “ancestral diets” to John.Wilkerson@statnews.com or John_Wilkerson.07 on Signal.

ACA premium spikes, and a thong-clad chicken suit

There are many reasons to care about the skyrocketing cost of ACA marketplace plans costs. One of them is the impact on small businesses.

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<![CDATA[New Delphi consensus guides off-label IV ketamine for depression, detailing protocols and rapid antisuicidal mechanisms via neuroplasticity and BDNF.]]>

IBS Linked to Elevated Triglyceride Levels in Large-Scale GWAS

A genome-wide association study (GWAS) among almost 2.8 million individuals has revealed a causal link between irritable bowel syndrome (IBS) and elevated triglyceride levels.

IBS affects between 5% and 15% of the general population, is more common in women, and considerably reduces quality of life. It is known as a disorder of gut–brain interaction, but understanding of underlying disease mechanisms is limited, which has hindered the development of effective biomarkers and mechanism-based therapies.

“Our findings support a more integrated view of IBS that extends beyond the traditional gut–brain axis,” said lead author Mauro D’Amato, PhD, professor of medical genetics at LUM University in Bari, Italy, and Ikerbasque research professor at CIC bioGUNE in Bilbao, Spain. “The specific pathways we highlighted may contribute to mechanism-based patient stratifications and the identification of new or existing drugs to be tested in patients who do not respond to current therapies.”

D’Amato and colleagues used genetic, questionnaire, and electronic health records (EHR) data for 2,775,539 individuals from 22 international biobanks, to investigate the genetic architecture of IBS across three case definitions (self-reported, Rome III criteria, and International Classification of Diseases criteria), three subtypes (IBS-C, characterized by constipation; IBS-D, characterized by diarrhea; and IBS-Mixed, which combines both), and by ancestry.

They found that IBS is an heritable condition among people of European ancestry but not among those of other ancestries. However, the investigators that caution that the finding should not be interpreted as “evidence against a genetic contribution to IBS in these [non-European] populations,” rather that the data they had was not powerful enough to prove a link.

Further analyses revealed 35 regions of the human genome associated with IBS risk. While several of these regions involved the brain and enteric nervous system, the researchers also identified a strong, unexpected overlap with cardiometabolic traits.

Specifically, they demonstrated a likely causal link between genetic liability for IBS and elevated levels of blood triglycerides, which was not explained by BMI.

“This association of IBS with pro-atherogenic lipid profiles is consistent with large-scale observational studies that have repeatedly documented a strong link between IBS and metabolic syndrome, including cardiovascular traits and elevated triglycerides, but not BMI,” write D’Amato and co-authors in Gut.

The molecular basis for the connection was a single nucleotide polymorphism in the gene for glucokinase regulatory protein (GKRP), which is a regulator of triglyceride metabolism. The variant is also associated with metabolic dysfunction-associated fatty liver disease, supporting a shared metabolic background.

“We have long known that IBS involves a complex dialogue between the gut and the brain, but these results show that the conversation includes the body’s metabolic system too,” said D’Amato. “The genetic link to triglyceride regulation and liver function gives us a completely new framework for understanding the condition.”

The researchers also looked for potential drug targets. They identified 276 chemical agents with possible therapeutic relevance, of which 156 had a defined mechanism of action. These included many with known applications in the treatment of IBS and related symptoms, including off-label prescriptions (nortriptyline, sertraline, lorazepam, curcumin, and capsaicin) as well others that are typically used to treat cardiovascular conditions (urapidil, fenoldopam, indapamide, nicardipine, picotamide, torsemide), and triglyceride-modifying compounds (rosuvastatin, simvastatin).

The remaining 120 small molecules, without a known target or mechanism of act, could represent “potential novel opportunities for translational research in IBS,” D’Amato and co-authors suggest.

They conclude that their findings provide “the most comprehensive assessment to date of IBS genetic architecture, its subtypes, and the biological and translational inferences that can be drawn from common-variant association signals.”

The post IBS Linked to Elevated Triglyceride Levels in Large-Scale GWAS appeared first on Inside Precision Medicine.

STAT+: Prime wins Beam arbitration, clearing path to clinic

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A father fights to create and then save his daughter’s gene therapy, the White House nears a decision on an FDA chief, and the Trump administration pushes drugmakers to reshore generics manufacturing.

A quest to save Grace — and help rare disease patients everywhere

With $70 million and seemingly every fiber of his being, Matt Wilsey built a gene therapy company from scratch — recruiting Nobel laureates and biotech veterans to will an experimental treatment into existence for his daughter Grace. The treatment, for the ultra-rare disorder NGLY1 deficiency, landed her back in the hospital before she slowly began to recover, STAT’s Jason Mast and Matt Herper write.

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<![CDATA[Experts explain why every diagnosis needs metabolic screening, how to discuss risk safely, and when to use tools like PsyMetRiC to assess risk.]]>
<![CDATA[Experts urge metabolic screening across psychiatric diagnoses, spotlighting tailored interventions and tools like PsyMetRiC—while warning risk talks can backfire.]]>
<![CDATA[Consensus guidance clarifies IV ketamine dosing, monitoring, staffing and consent to support safer, evidence-based depression treatment.]]>