Doctors at HCMCT Manipal Hospital saves 2-year-old with mercury poisoning

New Delhi: Recently, doctors at HCMCT Manipal Hospital saved a 2-year-old child with mercury poisoning following the accidental ingestion of mercury from a broken thermometer.

The child was brought to the hospital after the thermometer broke in his mouth. Initially, there were no visible signs of abdominal pain or vomiting, making it difficult to assess the extent of mercury ingestion.

The child was initially managed conservatively with laxatives under close observation, as the exact amount of mercury ingested was unknown. All routine tests, including serum and urine mercury levels, were conducted. However, despite the use of laxatives, an abdominal X-ray revealed a substantial amount of mercury spread throughout the bowel, posing significant health risks.

After 48 hours with no improvement in mercury clearance, Dr. Sufla Saxena, Head of Pediatric Gastroenterology and Hepatology, and her team proceeded with an urgent colonoscopy. During the procedure, mercury was located throughout the large bowel and at the tip of the appendix. A comprehensive bowel lavage was conducted (a procedure that involves flushing out the large intestine with liquid to clean it) to flush out the mercury from the colon.

Also Read:Manipal Hospitals set new Guinness World Record of 3319 CPR performances within 24 hours

The procedure went well, and the child was discharged the very next day. A follow-up X-ray confirmed that the mercury was fully cleared, eliminating the need for chelation therapy. This timely intervention successfully prevented the potential dangers of mercury toxicity.

Commenting on the case, Dr Sufla Saxena, Head of Pediatric Gastroenterology and Hepatology, HCMCT Manipal Hospital, Dwarka said, “Acute or chronic mercury exposure can cause adverse effects during any period of development. Mercury is a highly toxic element and can have devastating effects on critical organs such as the heart, central nervous system, and kidneys.

With early diagnosis and opting for the procedures at the right time, we were able to prevent the dangerous effects of mercury exposure and ensure the child’s recovery without complications. This case highlights the important role of timely and advanced pediatric care in managing toxic exposures.”

Also Read:HCMCT Manipal Hospital, Dwarka, Pfizer join hands to launch Centre of Excellence for Adult Vaccination

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Protein in soy may reduce the risk of heart failure by affecting gut bacteria, finds study

A research team from the Nagoya University Graduate School of Medicine has discovered a promising way to slow the progression of heart failure in mice. They fed mice a diet rich in the soybean protein, β-conglycinin (β-CG), which can support heart health by influencing gut bacteria. Their analysis revealed that the soybean protein rich diet increased the production of the short-chain fatty acids (SCFAs) in the intestine that play a role in protecting the heart. Their findings were published in Clinical Nutrition.

Many people with heart problems try to eat a nutritious diet to reduce their risk of disease. As part of a healthy diet, soybeans have long been recognized for their antioxidant and anti-inflammatory properties. Based on this, the researchers suspected that proteins in soy may help prevent heart damage.

Dr. Nozomi Furukawa and colleagues fed the soy-derived protein β-CG to mice prone to heart failure and investigated its effects on the heart. The mice showed improved heart function, less muscle thickening, and reduced scarring of the heart tissue, common problems associated with the progression of heart disease.

Analysis of bacteria in the gut identified an increase in three types of SCFA-producing bacteria (Butyricimonas, Marvinbryantia, and Anaerotruncus) as well as concentrations of SCFAs that maintain gut health (acetic acid, butyric acid, and propionic acid).).

These findings suggest that β-CG helps prevent heart damage, at least in part, by promoting the growth of SCFA-producing bacteria in the intestine. Bacteria produce SCFAs in the large intestine during the digestion of fiber and other foods. SCFAs are known to have anti-inflammatory properties and to play a role in maintaining intestinal health. However, their findings suggest they may also help protect the heart from damage caused by high blood pressure.

“An important aspect of this study is that functional soy components showed beneficial effects on the heart,” Furukawa said. “Previously, effects on obesity have been shown, but the effects on cardiovascular disease were not known. Importantly, β-CG intake increases major SCFAs and their producing bacteria as a change in the gut microbiota. These SCFAs may inhibit the progression of heart failure.”

When the researchers used antibiotics to reduce the population of these SCFA-producing microbes in mice, the protective effects of β-CG disappeared. This suggested that the gut microbiota is crucial for β-CG’s heart-protective action. To confirm this, they administered sodium propionate, one of the SCFAs, to the mice and found that it had similar effects to feeding the mice β-CG, reinforcing the idea that SCFAs are a key part in reducing heart damage.

Although the researchers performed this study on mice, the findings suggest that similar mechanisms may help treat heart failure in humans. β-CG or its derivatives could potentially be developed into therapeutic agents that help prevent or slow the progression of heart failure, offering a more natural solution to a major health problem.

“Of course, soy and its components, such as β-CG, may not be effective for all people, especially those with allergies,” Furukawa explained. “In the future, our team will focus on the structure within β-CG and investigate the detailed molecular mechanism of the increase in short-chain fatty acids that show cardioprotective effects, with the aim of developing new treatment and prevention methods.”

The researchers hope that it leads to new ways to treat heart disease through diet and gut health, highlighting the connection between what we eat and how our bodies, particularly our hearts, respond. With heart failure being one of the leading causes of death worldwide, these findings could have a lasting impact on how we maintain a healthy heart. 

Reference:

Nozomi Furukawaa, Soy protein β-conglycinin ameliorates pressure overload-induced heart failure by increasing short-chain fatty acid (SCFA)-producing gut microbiota and intestinal SCFAs, Clinical Nutrition, DOI: 10.1016/j.clnu.2024.09.045.

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100⁰ F temps linked to irregular heartbeat in those with implanted defibrillators, suggests study

Exposure to temperatures of 100°F (38°C) or higher may nearly triple the number of episodes of a form of irregular heart rhythm, known as atrial fibrillation or AFib, in people with implantable cardioverter defibrillators (ICDs), according to a preliminary study to be presented at the American Heart Association’s Scientific Sessions 2024.

The meeting, Nov. 16-18, 2024, in Chicago, is a premier global exchange of the latest scientific advancements, research and evidence-based clinical practice updates in cardiovascular science.

“AFib is becoming more prevalent both in the U.S. and globally, with its incidence rising at an alarming rate,” said study lead author Barrak Alahmad, M.D., Ph.D., M.P.H., a research fellow in environmental health at the Harvard T.H. Chan School of Public Health in Boston.

It is estimated that more than 12 million people will be living with AFib by 2030, according to the American Heart Association’s 2024 Heart Disease and Stroke Statistics. Heart disease and other medical conditions increase the risk of developing atrial fibrillation; however, the role of heat-induced stress in triggering this condition remains understudied.

Researchers examined health data for more than 2,000 U.S. adults with an implanted cardioverter-defibrillator (ICD) or cardiac resynchronization therapy defibrillator (CRT-D) device implanted between 2016 and 2023 across more than 100 cities in the U.S. These electronic devices are inserted into a person’s chest to monitor and regulate the heartbeat.

For each patient, the first episode of atrial fibrillation detected on the device was matched to hourly outdoor temperature data on the day of the episode for the location of the hospital or health care center where they received their device. Researchers then categorized the AFib episodes for each study participant by the time of day and day of the week with corresponding outdoor temperatures. The aim was to determine the effect, if any, of being exposed to temperatures that exceeded 100°F (38°C) in their geographical location. The relationship between outdoor heat and episodes of atrial fibrillation was determined for the whole study population.

The study found:

Compared to optimal outdoor temperatures between 41°F and 46.4°F (5°C to 8°C ), which had the lowest odds of causing an episode of AFib, when outdoor temperatures reached 102.2°F, 104°F and 105.8°F (39°C, 40°C and 41 °C), the odds of experiencing an episode of AFib were 2.66 times higher, 2.87 times higher and 3.09 times higher, respectively.

Fewer AFib episodes occurred in the early morning hours (12 a.m. to 7 a.m.) compared to standard working hours (8 a.m. to 5 p.m.).

Episodes of AFib were more common on weekdays than weekends.

An additional analysis that evaluated episodes of AFib that lasted longer than 30 minutes found similar results.

“We need to understand the physiological processes underlying these findings and concentrate on preventing conditions that trigger AFib to minimize the burden of arrhythmias,” said study co-author Theofanie Mela, M.D., a cardiac electrophysiologist at Massachusetts General Hospital in Boston. “In the meantime, we recommend patients avoid extreme temperatures and use air conditioners so that they do not expose their bodies to the severe stress of extremely high heat.”

American Heart Association volunteer expert Sanjay Rajagopalan, M.D., M.B.A., FAHA, who chaired the Association’s 2024 policy statement on transforming key urban provisioning systems to heart-health and sustainability outcomes, noted that heat stress has been implicated in an increase in cardiovascular disorders, including stroke, heart attack and cardiovascular death. However, few studies have examined the link between atrial fibrillation and heat stress.

“This may be the first study that has linked ICD detection of AFib with temperature spikes,” said Rajagopalan, chief of cardiovascular medicine at University Hospitals Harrington Heart and Vascular Institute and a professor at Case Western Reserve University, both in Cleveland. “These findings reiterate other recent research about the link between outdoor temperature and cardiovascular health. Given the rising prevalence of AFib in the general population due to increasing age and the prevalence of obesity, we now may also have to contend with rising temperatures.

“Susceptible individuals living in areas at risk for markedly increased temperatures should take note of these findings and ensure that they take appropriate precautions to stay cool and hydrated,” he added. “Unfortunately, the most vulnerable people may be those in lower socioeconomic groups who may not have access to air conditioning and other means of sheltering during warm days.”

Overall, this study cannot draw definitive conclusions for several reasons. Local weather stations measured temperatures where the patients received their ICDs, and this may not be the same as where patients lived. As a result, it’s impossible to be certain that study participants were exposed to the high temperatures recorded by the local weather stations.

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GLP-1 receptor agonists may be effective in helping people drink less alcohol, finds study

New research, led by experts at the University of Nottingham, has found that certain types of medication used to treat diabetes may be effective in reducing alcohol use.

The study, which is published in eClinicalMedicine, looked at whether a type of diabetes medication, called GLP-1 receptor agonists (GLP-1 RAs), could also be used to help people cut down on drinking.

The study was led by Dr Mohsen Subhani, Clinical Assistant Professor of Gastroenterology at the NIHR Nottingham Biomedical Research Centre, in the School of Medicine, at the University of Nottingham. It was funded by the National Institute for Health and Care Research (NIHR) and the NIHR Nottingham Biomedical Research Centre.

In the new study, researchers evaluated existing literature on GLP-1 RAs use and the change in alcohol consumption.

They gathered studies up to August 2024 that examined whether GLP-1 RAs affect alcohol use, alcohol-related health problems, hospital visits, and brain reactions to alcohol cues. The team evaluated six articles, including two randomised control trials made up of 88,190 participants, of these 38,740 (43.9%) of participants received GLP-1RA.

Dr Subhani said: “Our findings show that this type of diabetes medication shows promise in reducing alcohol consumption, potentially by targeting the brain’s reward centre, especially in people with a BMI over 30.”

The key findings:

  • In one main study, the medication exenatide did not significantly reduce drinking overall after six months, but people with obesity showed some positive results.
  • Another study found that people taking the drug dulaglutide were 29% more likely to reduce drinking than those on a placebo.
  • Observational studies (non-randomised) showed fewer alcohol-related health problems and lower alcohol use in people taking GLP-1 RAs compared to other treatments.

“Whilst further research is needed, our findings suggest this could be a potential treatment option in the future for excessive alcohol use and subsequently could lead to a reduction in alcohol-related deaths,” adds Dr Subhani.

Reference:

Mohsan Subhania, Association between glucagon-like peptide-1 receptor agonists use and change in alcohol consumption: a systematic review, EClinicalMedicine, DOI: 10.1016/j.eclinm.2024.102920 

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Combining SGLT2 Inhibitors and Pioglitazone May Reduce Risk of MASH in Type 2 Diabetes, Study Finds

China: A recent real-world study has revealed promising benefits from combining sodium-glucose co-transporter 2 inhibitors (SGLT2i) and pioglitazone in reducing the risk of MASH (metabolic dysfunction-associated steatotic liver disease) in patients with type 2 diabetes.

The findings, published in Diabetes, Obesity and Metabolism, suggest that this combination therapy could offer an effective strategy for managing liver-related complications in individuals with type 2 diabetes who are at risk for developing MASH.

MASH, a condition that includes a spectrum of liver abnormalities, such as fatty liver and non-alcoholic steatohepatitis (NASH), is increasingly recognized as a significant comorbidity in patients with type 2 diabetes. Both conditions share common risk factors such as insulin resistance, obesity, and inflammation, which often make them challenging to manage concurrently. Given the rising global prevalence of type 2 diabetes, finding effective treatments for liver complications associated with this condition has become a priority in clinical research.

Both pioglitazone and glucagon-like peptide 1 receptor agonists (GLP1RAs) have improved MASH in randomized clinical trials. Meanwhile, preclinical studies have suggested the potential benefits of SGLT2i for managing MASH. In real-world clinical practice, patients with type 2 diabetes often need a combination of medications to effectively control blood sugar levels. In the study, Chi-Ho Lee, State Key Laboratory of Pharmaceutical Biotechnology, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China, and colleagues explored the potential benefits of combining these therapies to reduce the risk of MASH in patients with type 2 diabetes.

For this purpose, the researchers measured longitudinal changes in the FibroScan-aspartate aminotransferase (FAST) score in 888 patients with type 2 diabetes. Pioglitazone, GLP1RA, and/or SGLT2i use were defined as continuous prescriptions for at least 180 days before the patients’ last reassessment using FibroScan. Multivariable logistic regression analysis was performed to evaluate the associations between the use of these medications and changes in the FAST score.

The study revealed the following findings:

  • Over a median follow-up of 3.9 years, an increasing number of medications (pioglitazone, GLP1RA, and/or SGLT2i) used was significantly associated with greater reductions in the FAST score.
  • Dual combination therapy is independently linked to a higher likelihood of achieving a low FAST score at reassessment than using any single agent (odds ratio [OR] 2.84).
  • Among different drug combinations, using SGLT2i and pioglitazone (median dose 15 mg daily) together was associated with:
    • A higher likelihood of achieving a low FAST score at reassessment than not using any of the three agents (OR 6.51).
    • A higher likelihood of FAST score regression (OR 12.52).
  • These associations remained significant after adjusting for changes in glycemic control and body weight during the study.

“The findings showed that combining SGLT2 inhibitors and pioglitazone may be an effective strategy for improving at-risk MASH in patients with type 2 diabetes,” the researchers concluded.

Reference:

DOI: https://doi.org/10.1111/dom.16049

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No Increased Risk of Major Congenital Malformations with First Trimester Tetracycline Use: JAMA

Sweden: A recent cohort study has explored the potential link between first-trimester exposure to tetracycline antibiotics and the risk of major congenital malformations (MCMs) in newborns. Tetracyclines, a class of antibiotics commonly used to treat bacterial infections, have been previously associated with a range of potential side effects, including concerns about fetal development when used during pregnancy.

The new research, published in JAMA Network Open revealed that although first-trimester tetracycline exposure was not linked to an increased risk of major congenital malformations, larger studies are needed to further investigate potential risks associated with specific malformation subgroups and individual defects.

Given the limited safety data on tetracycline antibiotic use during pregnancy, Aya Olivia Nakitanda, Centre for Pharmacoepidemiology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden, and colleagues aimed to investigate the potential association between first-trimester exposure to tetracyclines and the risk of major congenital malformations.

For this purpose, the researchers conducted a cohort study using data from nationwide registers on singleton live-born infants in Sweden, born between July 2006 and December 2018, with follow-up through December 2019. They compared tetracycline-exposed infants with unexposed infants, matched on propensity scores. First-trimester exposure was determined from maternal prescriptions.

The study’s primary outcome was any major congenital malformation (MCM) diagnosed in the first year. Secondary outcomes included 12 organ system subgroups and 16 individual malformations. Log binomial regression was used to calculate relative risks, with data analysis conducted between June 2023 and May 2024.

The following were the key findings of the study:

  • From a cohort of 1,245,889 eligible infants (51.4% males), a propensity score–matched cohort of 69,656 infants (51.5% males) was created.
  • Of 6,340 infants exposed to tetracyclines during the first trimester (52.4% males), 252 were diagnosed with any major congenital malformation (MCM), or 39.75 cases per 1,000 infants.
  • Among 63,316 unexposed infants, 2,454 were diagnosed with MCM (38.76 cases per 1,000 infants).
  • Tetracycline exposure was not associated with any MCM (RR: 1.03).
  • Specific tetracycline substances showed the following relative risks (RR):
    • Doxycycline: 1.07
    • Lymecycline: 0.83
    • Tetracycline-oxytetracycline: 0.78
  • There was no increased risk for 10 of the 12 malformation subgroups or any of the 16 individual malformations analyzed.
  • Higher RRs were observed for nervous system anomalies (RR: 1.92) and eye anomalies (RR: 1.76), but these were attenuated in a sensitivity analysis with extended follow-up to age 3 years (nervous system anomalies, RR: 1.08; eye anomalies, RR: 1.42).

“The cohort study found no association between first-trimester tetracycline exposure and an increased risk of major congenital malformations. However, further research is needed to exclude potential risks, as the study had limited statistical power for certain MCM subgroups and individual malformations,” the researchers concluded.

Reference:

Nakitanda AO, Odsbu I, Cesta CE, Pazzagli L, Pasternak B. First Trimester Tetracycline Exposure and Risk of Major Congenital Malformations. JAMA Netw Open. 2024;7(11):e2445055. doi:10.1001/jamanetworkopen.2024.45055

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Allergen-specific immunotherapy prevents adenoid hypertrophy recurrence in kids with allergic rhinitis: Study

A new study published in the Journal of Asthma and Allergy highlights the role of allergen-specific immunotherapy (AIT) in reducing adenoid hypertrophy (AH) recurrence in children with concurrent allergic rhinitis (AR). Adenoid hypertrophy and allergic rhinitis are common pediatric conditions known to impact the growth and overall well-being of the children. The study points out that children with both conditions often undergo higher rates of AH recurrence post-adenoidectomy, making effective management strategies essential.

This study was conducted on a group of 134 children aged between 5 and 12 years to investigate the efficacy of allergen-specific immunotherapy (AIT) in reducing the recurrence of AH after surgery. The participants were divided into two groups, where 62 children received subcutaneous immunotherapy (SCIT) with a double-mite allergen preparation and other 72 children in the control group were treated symptomatically using medications without AIT.

To measure the recurrence of AH, this research evaluated the adenoid/nasopharyngeal (A/N) ratio one year after the adenoidectomy. Along with this, they assessed the severity of sleep disorders and AR symptoms using the Obstructive Sleep Apnoea Questionnaire (OSA-18), Paediatric Rhinoconjunctivitis Quality of Life Questionnaire (PRQLQ), and Visual Analogue Scale (VAS).

The findings suggest that the recurrence rate of AH was significantly lower in the SCIT group at just 4.84% when compared to 16.67% in the non-AIT group, with statistical significance (P=0.030). The post-treatment assessment scores for sleep disturbances and AR symptoms underlined the benefits of SCIT. Also, the children in the SCIT group showed notable improvements, reflected in considerably lower OSA-18, PRQLQ, and VAS scores when compared to the non-AIT group (P < 0.001) which indicated reduced severity of sleep-related issues and AR symptoms.

These results point to AIT, specifically SCIT with a double-mite allergen preparation, as a potentially effective strategy to prevent AH recurrence in children with AR who have undergone adenoidectomy. This form of immunotherapy not only helps in modifying the progression of allergic diseases but also seems to enhance the postoperative outcomes by significantly benefiting the quality of life of children. Overall, the findings of this research suggest that AIT should be considered a preferred post-operative therapy to manage AH recurrence in pediatric patients with concurrent AR.

Reference:

Hua, H., Deng, Y., Tang, Y., Wang, Y., & Tao, Z. (2024). Allergen Immunotherapy for a Year Can Effectively Reduce the Risk of Postoperative Recurrence of Adenoid Hypertrophy in Children with Concurrent Allergic Rhinitis (IMPROVEII). In Journal of Asthma and Allergy: Vol. Volume 17 (pp. 1115–1125). Informa UK Limited. https://doi.org/10.2147/jaa.s477376

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First evidence of artemisinin partial resistance encountered in Ugandan children with complicated malaria: JAMA

A new study from Uganda provides the first evidence to date that resistance to a lifesaving malaria drug may be emerging in the group of patients that accounts for most of the world’s malaria deaths: young African children suffering from serious infections. The study, presented today at the Annual Meeting of the American Society of Tropical Medicine and Hygiene and published in the Journal of the American Medical Association (JAMA), documented partial resistance to the malaria drug artemisinin in 11 of 100 children, ages 6 months to 12 years, who were being treated for “complicated” malaria, that is, malaria with signs of severe disease caused by the malaria parasite Plasmodium falciparum.

Also, 10 patients who were thought to have been cured suffered a repeat malaria attack within 28 days from the same strain of malaria that caused the original infection, suggesting that the initial treatment did not fully kill the infecting parasites.

“This is the first study from Africa showing that children with malaria and clear signs of severe disease are experiencing at least partial resistance to artemisinin,” said Chandy John, MD, MS, director of the Indiana University School of Medicine Ryan White Center for Infectious Diseases and Global Health, who is a co-author of the study along with colleagues Ruth Namazzi and Robert Opoka from Makerere University in Kampala in Uganda, Ryan Henrici from University of Pennsylvania, and Colin Sutherland from London School of Hygiene & Tropical Medicine.

John, who is a former ASTMH president said, “It’s also the first study showing a high rate of African children with severe malaria experiencing a subsequent malaria episode with the same strain within 28 days of standard treatment with artesunate, a derivative of artemisinin, and an artemisinin combination therapy (ACT).”

The arrival of artemisinin therapies some 20 years ago was a major advance in the global fight against malaria due to their power to rapidly cure infections — and because malaria parasites had developed resistance to other drugs. In 2008, there were reports from Cambodia noting partial resistance to artemisinin. By 2013 there was evidence that in some patients, the drug was completely failing. In the last few years, there has been increasing evidence that artemisinin resistance has now spread from that region into East Africa. The prospect of artemisinin losing its efficacy is particularly alarming for Africa and especially for African children. The region accounts for 95% of the 608,000 people who die from malaria each year and a large majority of malaria deaths in Africa are children under 5.

While all of the children in the study eventually recovered, 10 of them were infected with malaria parasites that harbor genetic mutations that have been linked to artemisinin-resistance in Southeast Asia. The study noted that while these mutations have been documented in Africa in less severe cases, this was the first time they have been seen in parasites that were causing complicated malaria in hospitalized African children. The term “complicated” malaria is used to define cases where the disease is at risk of causing potentially life-threatening complications, like severe anemia or brain-related problems known as cerebral malaria.

John said that researchers classified patients as suffering from partial resistance based on the World Health Organization’s defined half-life cutoff for parasite clearance of more than five hours, meaning requiring more than five hours to reduce a patient’s parasite burden by 50%. Two children required longer than the standard maximum of three days of artesunate therapy because they failed to clear their parasites with three days of therapy. He said longer treatment times increase the risk of poor outcomes. Also, he said that in Southeast Asia, the path to broadly resistant malaria parasites started with evidence of partial artemisinin resistance, and the concern is that pattern will be repeated in sub-Saharan Africa.

The Ugandan children in the study received what is considered to be the gold standard for treating complicated malaria infections: an intravenous infusion of artesunate followed by oral treatment with an ACT that combines another derivative of artemisinin, a drug called artemether, with the malaria drug lumefantrine.

John said the relatively high number of recurrent cases raises concerns that the efficacy of lumefantrine also may be declining. The drug is paired with artemether to make it harder for parasites to develop artemisinin resistance and also because lumefantrine stays in the body longer than artemether. Therefore, it can kill any remaining parasites not cleared by the shorter-acting artemisinin.

John said the study emerged from ongoing work in Uganda that is investigating outcomes of children who experience episodes of severe malaria. He said researchers pivoted to a focus on drug resistance because they noticed some children appeared to be slower to respond to the infusion of artesunate followed by an oral ACT.

“The fact that we started seeing evidence of drug resistance before we even started specifically looking for it is a troubling sign,” John said. “We were further surprised that, after we turned our focus to resistance, we also ended up finding patients who had recurrence after we thought they had been cured.”

Reference:

New study provides first evidence of African children with severe malaria experiencing partial resistance to world’s most powerful malaria drug, American Society of Tropical Medicine and Hygiene, Meeting: 2024 Annual Meeting: American Society of Tropical Medicine and Hygiene.

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Reduction of cutaneous Neurofibroma number on face may improve QoL in individuals with neurofibromatosis type1: JAMA

Researchers have found that the presence and severity of cutaneous neurofibromas, especially those on the face, significantly lower the quality of life in individuals with neurofibromatosis type 1(NF 1). This result came from a broad study that aimed at estimating the correlation between some certain features of cNFs with quality of life (QoL). NF1 is a rare genetic disorder leading to significant morbidity. The study was recently published in JAMA Dermatology by Lin M.J. and colleagues.

cNFs are benign tumors that grow on the skin surface of NF1 patients and often may be the source of physical discomfort and emotional distress. The aims of the study were the development of a large, decentralized platform for NF1 patients and the study of how certain characteristics-number, size, location-of cNFs are associated with QoL, pain, and itch. By establishing a registry that included clinical survey data, photography, and genetic sequencing, the authors hoped to overcome some of the challenges in subject recruitment intrinsic to studying this rare condition and glean some insights into how therapeutic interventions may improve patient outcomes.

From May 2021 to December 2023, a decentralized and globally utilized platform was used for participant recruitment, individuals aged 40 years or above with NF1 and at least one cNF. They had survey data with photographs and genetic sequencing from 49 U.S. states and 12 countries of the world. The photographs of 583 participants were scored for 12 key features of cNF, including features about their general severity, number, size, facial severity, color, and subtypes. These features were then analyzed in relation to QoL outcomes assessed using the Skindex scale, with subdomains for symptoms, emotions, function, pain, and itch.

Results

  • The 583 participants included 384 (65.9%) females, of mean age 51.7 years, ranging from 40.0 to 83.0 years.

  • Impaired QoL, represented as higher overall Skindex scores, was related to female sex, overall severity, number of cNFs, and facial severity.

  • The number of cNFs and the presence of cNFs on the face had the greatest negative impact on QoL.

  • Even patients with less than 10 cNFs showed deterioration in QoL, demonstrating their important burden.

  • Besides QoL, increased number and severity were associated with higher levels of pain and itch, further increasing the impact on livelihood in these patients.

The conclusion derived from this study was that the number and severity of cutaneous neurofibromas, especially in the facial region, directly influence QoL in NF1 patients. Consequently, early intervention to reduce the number of cNFs would have maximum benefit among the patients. This offers not only an opportunity for a deeper understanding of the relationship between cNF features and QoL, but also of the effectiveness of a decentralized, photograph-validated approach to studying ultra-rare genetic diseases.

Reference:

Lin, M. J., Yao, H., Vera, K., Patel, E., Johnson, M., Caroline, P., Ramos, J., Mehta, J., Hu, X., Blakeley, J. O., Romo, C. G., & Sarin, K. Y. (2024). Cutaneous neurofibromas and quality of life in adults with neurofibromatosis type 1. JAMA Dermatology (Chicago, Ill.). https://doi.org/10.1001/jamadermatol.2024.2912

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Frequent emergency care during pregnancy could signal greater risk for severe maternal morbidity: JAMA

A new study found that pregnant people in Massachusetts who made multiple unscheduled hospital visits during their pregnancy were 46 percent more likely to experience severe maternal morbidity than those who sought limited or no emergency care during pregnancy.

Frequent hospital visits during pregnancy could be a sign that a pregnant person will encounter life-threatening complications during or after pregnancy, according to a new study led by Boston University School of Public Health (BUSPH) and Cityblock Health.

Published in JAMA Network Open, the study found that, among nearly 775,000 pregnant people in Massachusetts, 31 percent of these individuals had at least one unscheduled emergency visit to the hospital, and 3.3 percent had four or more unscheduled hospital visits. The latter group was nearly 50 percent more likely to experience severe maternal morbidity (SMM), which encompasses a range of complications during labor or childbirth that can lead to poor maternal outcomes such as aneurysms, eclampsia, kidney and heart failure, and sepsis.

Importantly, the findings also revealed that nearly half of the pregnant people who sought emergency care four or more times during their pregnancy visited multiple hospitals for evaluation. The resulting lack of consistent treatment to patients from any given hospital makes it difficult for hospital-based pregnancy programs to capture the true burden of prenatal and postpartum challenges that these patients experience.

The analysis is the first US-based assessment of an association between four or more emergency-care visits during pregnancy and risk of SMM. It builds upon a prior study by the researchers which found that 70 percent of people who had a pregnancy-associated death during postpartum also visited a hospital between the time they gave birth and the time they were hospitalized at death. As both SMM and maternal morbidity rates in the US remain the highest among wealthy countries, identifying these high-risk pregnant patients and understanding the extent of their prenatal health challenges can spur efforts to connect this population to other preventive care within their communities.

“When there is a poor maternal health outcome, there is a tendency to say, ‘If we only knew earlier,’says study lead author Dr. Eugene Declercq, professor of community health sciences at BUSPH. “Those in our study with repeated prenatal emergency visits are showing us clearly they’re at risk. Avoiding severe maternal morbidity isn’t something that only happens at the time of birth-it must start with the early identification of high-risk cases like these, followed by community-based support to avoid catastrophic outcomes for mothers and infants.”

For the study, Dr. Declercq and colleagues utilized data from a statewide database that linked unscheduled hospital visits-including trips to the emergency department as well as observational hospital stays-by 774,092 pregnant patients to births and fetal deaths in Massachusetts between October 2002 and March 2020.

About 18 percent of patients had one emergency visit to the hospital, nearly 7 percent had two visits, 3 percent had 3 visits, and 3.3 had four or more visits. About 44 percent of patients who sought emergency care four or more times during pregnancy visited more than one hospital. This group was 46 percent more likely to experience SMM than patients who sought less emergency care and visited fewer hospitals during their pregnancy. Patients were also more likely to seek emergency care during the first eight weeks and last eight weeks of their pregnancy.

The researchers also observed several racial, economic, and age-related disparities among the patients who used emergency care multiple times during their pregnancy. High utilization of unscheduled hospital care was most associated with women under 25 years old, Hispanic and non-Hispanic Black patients, and those who were born in the US, unmarried, or who had an additional health condition or opioid-related hospitalization in the year prior to their pregnancy. Some of these individuals have visited up to six different Massachusetts hospitals for emergency care, the researchers say.

“Our study shows for the first time that those who use the emergency room more during pregnancy are more likely to be people of color who are at significantly higher risk of experiencing a potentially life-altering morbidity event around the time of childbirth,” says study senior author Dr. Pooja Mehta, adjunct assistant professor of obstetrics & gynecology at BU’s Chobanian & Avedisian School of Medicine and vice president of population health at Cityblock Health. “We need to do much more than provide these individuals a follow-up prenatal visit; our actions have to be timely and address root causes and fragmentation in the system to impact the layers of structural racism that we already know contribute to maternal morbidity.”

The team hopes these findings bring attention to the high rates of emergency care visits driven by unmet needs—a public health issue that is not well documented—and encourage researchers, healthcare providers, policymakers, and reproductive health advocates to envision ways to strengthen or compensate for traditional prenatal care that falls short of meeting pregnant patients’ health needs. 

Reference:

Declercq ER, Liu C, Cabral HJ, Amutah-Onukagha N, Diop H, Mehta PK. Emergency Care Use During Pregnancy and Severe Maternal Morbidity. JAMA Netw Open. 2024;7(10):e2439939. doi:10.1001/jamanetworkopen.2024.39939

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