The patient was scheduled for a biopsy and video-assisted thoracoscopic surgery (VATS) to remove suspicious lung nodules, likely linked to a sarcoma treated four years earlier. His condition suggested he would not need pain relief. But previous surgeries had revealed a complication: although he could not feel pain in the usual sense, his body still reacted strongly after surgery.

When No Pain Still Means Discomfort

During the operation, his vital signs remained completely stable. No changes in heart rate, blood pressure, or breathing were observed, even during incisions. This confirmed that his nervous system did not register pain in the expected way. Yet in the hours after surgery, the picture changed. He developed mild fever, high blood pressure, and rapid heartbeat — signs typically associated with pain or infection.

To manage these symptoms, the team used standard pain medications, including patient-controlled doses of oxycodone and later oral paracetamol and opioids. The symptoms eased, even though the patient insisted he felt no pain. Interestingly, he began to feel nauseous from the medication and eventually stopped the stronger drugs. Despite this, milder analgesics kept his symptoms in check.

Rethinking Pain Management in Special Cases

This case suggests that pain perception is not the only signal that matters after surgery. The body’s internal stress response — involving hormones, heart rate, and immune activity — can still be triggered even if the brain does not interpret pain normally. In this patient, those physiological responses were real and measurable, despite his insensitivity.

Painkillers, especially opioids, appear to have helped by calming that internal alarm system. It raises the question: should post-operative care rely only on what the patient reports, or should it also consider unseen responses? In this case, not treating these reactions might have led to complications or delayed recovery.

What the Medical Literature Says

A review of related case reports supports this mixed picture. In some patients with similar conditions, surgery was performed with little or no anaesthetic, and they recovered without issue. But others, like this patient, showed significant changes in blood pressure or heart rhythm in response to procedures. One large review found that even though pain was absent, the body sometimes still reacted with stress signals such as fever and heart rate changes.

It is also notable that different types of congenital pain insensitivity can have different effects on the autonomic nervous system. Some patients have difficulty regulating temperature or heart rate, while others do not. This variation makes it difficult to apply a one-size-fits-all approach to care.

What This Could Mean for Future Protocols

The case challenges the current trend of reducing opioid use in post-surgical care by showing that even patients who cannot feel pain may need them. It also suggests that clinicians should monitor not only pain scores but also vital signs and stress indicators, especially in rare neurological conditions.

Customizing care based on individual physiology — rather than relying solely on reported pain — could lead to better outcomes for patients with unusual conditions. As medical knowledge advances, understanding the full picture of how the body responds to surgery may help shape safer and more effective treatment plans.

[Source]

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The patient, KJ Muldoon, was diagnosed shortly after birth with carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder that disrupts the body’s ability to eliminate ammonia. The condition, which affects about 1 in 1.3 million newborns, can cause rapid and irreversible brain damage if untreated.

A Precision-Driven Approach to a Rare Mutation

CPS1 deficiency is caused by mutations in the CPS1 gene, and in KJ’s case, the mutation was both extremely rare and severe. The standard approach to treatment involves strict dietary control, ammonia-scavenging drugs, and often liver transplantation. However, the underlying gene defect remains unaddressed by these treatments.

Researchers at the University of Pennsylvania and Children’s Hospital of Philadelphia developed a novel approach: base editing, a refined version of CRISPR that enables the precise conversion of a single DNA base into another.

This method significantly reduces the risk of unwanted edits or large-scale genetic disruptions, a limitation of earlier CRISPR systems.

The therapy was designed specifically for KJ’s unique mutation, requiring a rapid and collaborative development effort between academic labs, regulatory agencies, and biotech companies. The gene-editing components were delivered to the liver using lipid nanoparticles—an established delivery platform also used in mRNA vaccines.

Condensed Timeline Reflects Technical Agility

Typically, gene therapies take years to develop, test, and approve. In this case, the therapy was designed, validated in lab models, and prepared for clinical use in just six months.

That timeline was made possible through emergency-use regulatory flexibility granted by the U.S. Food and Drug Administration (FDA), as well as public-private partnerships that provided key resources at cost or through in-kind support.

The first low-dose infusion of the therapy was administered in early 2024. The treatment was monitored closely for efficacy and safety, with a focus on metabolic stability and ammonia levels. Within two weeks, clinicians observed an increase in KJ’s protein tolerance, an indirect marker of restored urea cycle function.

Following two additional doses, doctors reported sustained metabolic stability, reduced need for supportive medications, and no observed adverse effects related to the editing process.

Scientific and Regulatory Significance

The successful case demonstrates the clinical viability of “n=1” gene-editing therapies—treatments developed for a single patient with a specific mutation.

According to Dr. Kiran Musunuru, the lead researcher and a professor of cardiovascular medicine at Penn, the base-editing construct corrected the pathogenic variant with minimal off-target activity in lab testing, and the child’s clinical response aligns with that prediction.

This approach may serve as a blueprint for treating other ultra-rare genetic disorders. The core components of base editing can be reused, with the targeting element customized for each patient’s specific mutation. This modularity could dramatically reduce the development time and cost for future therapies.

Regulators, including FDA official Dr. Peter Marks, have expressed cautious optimism. Marks described the case as “proof-of-concept” for personalized genomic medicine, while emphasizing the need for long-term monitoring and further validation before broader adoption.

The Road Ahead

KJ remains under medical supervision but is showing normal development for his age. If progress continues, he may soon be discharged from the hospital—an outcome rarely seen in severe cases of CPS1 deficiency without a liver transplant.

While this therapy was created specifically for one patient and will not be used for others, it highlights a path forward for the estimated 30 million Americans affected by rare genetic conditions.

Researchers involved in the case stress that such interventions must be backed by rigorous preclinical data and clear ethical oversight. But for now, KJ’s case represents a tangible milestone: the merging of CRISPR science, clinical urgency, and regulatory flexibility to deliver a treatment that would not have been possible just a few years ago.

[Source: 1,2]

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Five Years of Uncertainty and Declining Vision

Ellie’s symptoms began in 2019 while she was still in medical school. Her right eye developed chronic inflammation that led to blurred vision and eventually a cataract. Despite multiple tests—including those for autoimmune conditions and infectious agents—results remained inconclusive. Physicians assumed it was an autoimmune response and prescribed steroid eye drops and intravenous immunosuppressants.

Over the years, her condition remained unstable. Managing the condition took over her daily life, with hourly eye drop applications becoming a constant necessity. The medication regimen, frequent hospital visits, and continued vision problems interfered with both her work and quality of life.

At one point, she even considered removing her eye.

What Is a Metagenomic Test?

A metagenomic test involves sequencing the genetic material from a sample—such as tissue, fluid, or swab—without needing to culture the organisms. Unlike conventional tests that look for known pathogens, metagenomics provides a wide-angle view, identifying all microbial DNA or RNA in a sample.

This approach is particularly valuable when the causative organism is rare, unculturable, or unexpected. In Ellie’s case, it identified a rare bacterial strain that had gone undetected for years. Once the correct pathogen was known, she was treated with targeted antibiotics, leading to full recovery.

A Turning Point in Infectious Disease Diagnosis

According to Professor Carlos Pavesio, an ophthalmologist at Moorfields Eye Hospital, the case marks a major step forward. He emphasized that countless patients endure ongoing infections even after multiple diagnostic attempts and treatment rounds. This case shows that with the right technology, we can identify the pathogen and actually cure the patient,” he said.

The case highlights how metagenomic testing can offer answers in infections that traditional methods struggle to identify. Traditional diagnostics often rely on culture-based or antibody-driven methods, which may fail if the pathogen does not grow in artificial media or if the immune response is atypical.

The Broader Impact of Metagenomics in Medicine

Although still relatively new in clinical practice, metagenomics has been widely used in microbial ecology and environmental biology. Now, its transition into human health is showing promise, especially in areas like infectious disease, oncology, and microbiome research.

In hospitals, metagenomic sequencing could help address diagnostic blind spots where patients are symptomatic, but no clear cause is found. It may also help combat antimicrobial resistance by guiding precise antibiotic selection.

However, there are challenges. The technology is resource-intensive, data interpretation requires advanced bioinformatics, and clinical validation is ongoing. Still, cases like Ellie’s highlight the test’s value as a diagnostic tool when conventional methods fail.

[Source: 1,2]

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Demographic Disparities in Long COVID

The survey, conducted by the US Agency for Healthcare Research and Quality and analyzed by statisticians Zhengyi Fang and Rebecca Ahrnsbrak, included responses from over 17,400 adults aged 18 and older. Of these, 8,275 individuals reported a prior infection with SARS-CoV-2, and 1,202 of them experienced long COVID symptoms such as fatigue, brain fog, and difficulty breathing.

The data revealed notable demographic differences:

• Gender: Females were more likely to report long COVID than males, with 8.6% of women compared to 5.1% of men.
• Age: Middle-aged adults showed higher rates of long COVID compared to younger and older adults, who tend to have better overall health and higher booster shot rates.
• Vaccination Status: Those who had received a booster shot exhibited lower rates of long COVID than those who had only two doses of a COVID-19 vaccine or were unvaccinated. This suggests that booster shots may enhance protection against long COVID by reducing the risk of severe COVID-19.

Risk Factors and Health Implications

Pre-existing health conditions such as chronic illnesses and obesity were identified as significant risk factors for long COVID. This aligns with previous studies highlighting high blood pressure, depression, diabetes, and chronic obstructive pulmonary disease (COPD) as contributing factors.

Global Perspectives on Long COVID

The prevalence of long COVID varies globally, influenced by differences in viral variants, vaccination rates, and study definitions. For instance:

• Scotland: A nationwide study reported that 6.5-10% of adults had long COVID 6-18 months post-infection.
• Australia: 5-10% of adults experienced persistent symptoms three months after testing positive.
• Netherlands: Approximately 12.7% of people had long COVID as of August 2022.

It is estimated that around 65 million people worldwide have developed long COVID, based on the assumption that 10% of the 651 million people who had COVID-19 by 2022 are affected. However, these figures are subject to debate due to potential underreporting and variations in data collection methods.

Ongoing Research and Healthcare Implications

Researchers continue to investigate the mechanisms behind long COVID to develop effective therapies. They also aim to answer fundamental questions about the prevalence and risk factors associated with long COVID. The findings emphasize the importance of recognizing and addressing the condition to inform healthcare responses and support affected individuals.

The comprehensive analysis of long COVID in the United States, published in JAMA, provides critical insights into the pandemic’s long-term effects and highlights the need for continued research and healthcare strategies to manage this chronic condition.

References:

1. Fang, Z., & Ahrnsbrak, R. (2023). Nationally Representative Household Survey Analysis. JAMA. Link
2. News Source: SciHB. Link

The post Almost 18 Million Adult Americans Have Had Long COVID: A Detailed Analysis appeared first on Medical Journal Daily.

When the episode aired in 2013, he sought the expertise of a medical professional, who confirmed his condition, stating that his genitals were underdeveloped.

Years later, Brandon participated in an AMA(Reddit), where he elaborated on his life experiences and the treatments he pursued following the show.

Reflecting on his youth, he said, “I always knew something was off with my body but didn’t seriously address it until my late teens. I needed a physical to join my high school soccer team, and that’s when I asked the doctor why I hadn’t gone through puberty. He brushed it off, saying I was just a late bloomer.”

Brandon admitted that he didn’t think much of it at the time, choosing to focus on school and work. After finishing school, he experienced a significant growth spurt, shooting up from 5’4” to 6’3”. While it seemed like he was finally developing, he later realized he should have sought medical advice earlier.

Following personal struggles, including a divorce and unemployment, Brandon decided to research his symptoms. After months of self-study, he diagnosed himself with Kallmann syndrome, a genetic condition characterized by the delayed or absent onset of puberty.

For the past two years, Brandon has undergone testosterone replacement therapy (TRT) three times, each lasting 2-3 months. However, the costs of frequent doctor visits, blood work, and medication have been overwhelming. Despite applying for medical assistance, he was denied, as his condition wasn’t deemed severe enough.

Before his appearance on The Doctors, Brandon had no body hair, minimal pubic and armpit hair, and no facial hair. His testes, he said, were the size of marbles and would only grow with specialized hormone therapy.

Though people often perceive him as younger than he is, Brandon said he has come to terms with this. “Once I explain my condition, they usually understand and treat me appropriately,” he noted.

2023 Update

Brandon has shared that most of his health issues are “invisible illnesses,” which are hard to detect unless someone witnesses him experiencing a migraine or muscle cramps. For 37 years, he has lived in a state of constant exhaustion.

Over the past 27 days, he has had a constant headache, fluctuating from mild to severe migraines. He attributes this to allergies, which worsened after starting allergy injections about a month ago.

Around two years ago, Brandon was diagnosed with celiac disease. Upon receiving the diagnosis, he immediately purged his home of gluten-containing foods and adopted a new diet. After six months with no improvement, he saw a gastroenterologist and was also diagnosed with microscopic colitis.

Many foods still upset his stomach, which triggers muscle cramps. Brandon maintains a limited diet, eating only 4-5 meals. While his muscle spasms have improved with dietary changes, he has torn five muscles in the past three years, two of which were severe. His primary care doctor finally referred him to a neurologist, who has since referred him to the University of Utah for further testing, focusing on metabolic and serotonin disorders.

Brandon’s muscle spasms vary, ranging from tremors to cramping that can last seconds to hours. They often occur in multiple muscles simultaneously. On a good night, he wakes up with mild cramps 3-5 times, while bad nights see him waking up as many as 20 times. Despite these challenges, Brandon noted that his health has improved over the past two years, though it’s still not where he would like it to be.

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A few years ago, a 44-year-old man from France sought medical attention due to mild weakness in his left leg. Upon examination, doctors were shocked to find that his skull was predominantly filled with fluid, with only a thin layer of actual brain tissue remaining.

Despite this significant loss of brain matter, the man was living a normal life as a married father of two and working as a civil servant. His IQ was measured at 75, which is below average but not indicative of mental disability.

Medical experts believe that the man’s brain gradually deteriorated over three decades because of a condition known as hydrocephalus, where fluid accumulates in the brain’s ventricles. This condition was treated when he was an infant with a shunt that drained the fluid into his bloodstream, but the shunt was removed when he was 14 years old. Over time, the fluid slowly built up again, compressing the brain and reducing its volume.

While this case is medically astounding, it also presents a significant challenge to cognitive psychologists, according to Axel Cleeremans from the Université Libre de Bruxelles.

“Any theory of consciousness has to be able to explain why a person like that, who’s missing 90% of his neurons, still exhibits normal behavior,” Cleeremans explains. He notes that theories of consciousness relying on specific brain structures would struggle to account for such an extraordinary case.

Typically, the frontal, parietal, temporal, and occipital lobes of the brain are believed to control various functions, including movement, sensation, language, vision, hearing, and emotional and cognitive processes. However, in this man’s case, these regions were significantly reduced, yet he did not exhibit severe mental impairments. This suggests that if brain damage occurs gradually, the brain might adapt in ways that allow it to continue functioning.

Cleeremans, who discussed this topic at the Association for the Scientific Study of Consciousness conference in Buenos Aires, suggests that the brain’s ability to adapt, known as plasticity, is crucial to understanding how consciousness works.

He posits that consciousness is something the brain learns. Therefore, the presence of specific neural structures may not be essential for consciousness, as the brain can adapt to new circumstances and still develop consciousness.

“Consciousness is the brain’s non-conceptual theory about itself, gained through experience—that is learning, interacting with itself, the world, and with other people,” Cleeremans says.

In his paper, Cleeremans argues that being conscious involves not just knowing information, but being aware that one knows. Unlike a thermostat that only registers temperature, conscious beings are aware of and concerned with their knowledge. He suggests that the brain is constantly and unconsciously learning to reinterpret its activities, which forms the foundation of conscious experience.

Ultimately, Cleeremans believes that consciousness is “the brain’s theory about itself.” In the case of the Frenchman with a drastically reduced brain, his brain still managed to develop a theory about itself, showcasing a remarkable example of how the brain adapts and sustains consciousness.

References:

• Feuillet, L., Dufour, H., & Pelletier, J. (2007). Brain of a white-collar worker. The Lancet, 370(9583), 262. https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(07)61127-1/fulltext
• Pereira, E. A., & Aziz, T. Z. (2011). Neurosurgical insights into the pathophysiology of Tourette syndrome. Journal of Clinical Neuroscience, 18(8), 1035–1040. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110382/

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