Category: Diseases, Syndromes and Conditions

Categories : Antibiotics Diseases, Syndromes and ConditionsTags :

S. Typhi is Developing Antibiotic Resistance

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Bacteria causing Typhoid fever are becoming increasingly resistant to the macrolide and quinone antibiotic classes, according to a study published in The Lancet Microbe. The largest genome analysis of Salmonella enterica serovar Typhi also reveals that resistant strains, mostly from South Asia, have spread to other countries nearly 200 times since 1990.

Typhoid fever is a global public health concern, causing 11 million infections and more than 100 000 deaths per year. While it is most prevalent in South Asia, making 70% of global cases, it also has significant impacts in sub-Saharan Africa, Southeast Asia, and Oceania, highlighting the need for a global response.

Typhoid fever infections are treatable with antibiotics, but their effectiveness is threatened by the emergence of resistant S. Typhi strains. Thus far, little is known about the rise and spread of resistant S. Typhi has so far been limited, with most studies based on small samples, prompting researchers led by Stanford University to conduct a wider spread study.

The study researchers genetically sequenced 3489 S. Typhi isolates obtained from blood samples collected between 2014 and 2019 from people in Bangladesh, India, Nepal, and Pakistan with confirmed cases of typhoid fever. A collection of 4169 S. Typhi samples isolated from more than 70 countries between 1905 and 2018 was also sequenced and included in the analysis.

Resistance-conferring genes in the 7658 sequenced genomes were identified using genetic databases. Strains were classified as multidrug-resistant (MDR) if they contained genes giving resistance to classical front-line antibiotics ampicillin, chloramphenicol, and trimethoprim/sulfamethoxazole. The authors also traced the presence of genes conferring resistance to the crucially important macrolides and quinolones.

The analysis shows resistant S. Typhi strains have spread between countries at least 197 times since 1990. While these strains most often occurred within South Asia and from South Asia to Southeast Asia, East and Southern Africa, they have also been reported in the UK, USA, and Canada.

Since 2000, MDR S. Typhi has declined steadily in Bangladesh and India, and remained low in Nepal (less than 5% of Typhoid strains), though it has increased slightly in Pakistan. However, these are being replaced by strains resistant to other antibiotics.

For example, gene mutations giving resistance to quinolones have arisen and spread at least 94 times since 1990, with nearly all of these (97%) originating in South Asia. Quinolone-resistant strains accounted for more than 85% of S. Typhi in Bangladesh by the early 2000s, increasing to more than 95% in India, Pakistan, and Nepal by 2010.

Azithromycin resistance mutations have emerged at least seven times in the past 20 years. In Bangladesh, strains with these mutations emerged around 2013, and since then their population size has steadily increased. The findings add to recent evidence of the rapid rise and spread of S. Typhi strains resistant to third-generation cephalosporins, another class of antibiotics critically important for human health.

“The speed at which highly-resistant strains of S. Typhi have emerged and spread in recent years is a real cause for concern, and highlights the need to urgently expand prevention measures, particularly in countries at greatest risk. At the same time, the fact resistant strains of S. Typhi have spread internationally so many times also underscores the need to view typhoid control, and antibiotic resistance more generally, as a global rather than local problem.”

Dr Jason Andrews, Study Lead Author Stanford University

The authors acknowledge some limitations to their study. S. Typhi sequences are underrepresented in several regions, particularly many countries in sub-Saharan Africa and Oceania, where typhoid is endemic. More sequences from these regions are needed to improve understanding of timing and patterns of spread.

Even in countries with better sampling, most isolates come from a small number of surveillance sites and may not be representative of the distribution of circulating strains. As S. Typhi genomes only cover a fraction of all typhoid fever cases, estimates of resistance-causing mutations and international spread are likely underestimated. These potential underestimate highlight the need to expand genomic surveillance to provide a more comprehensive window into the emergence, expansion, and spread of antibiotic-resistant organisms.

Source: EurekAlert!

Categories : Diseases, Syndromes and Conditions Environmental EffectsTags :

Sunlight Might Cause New-onset Lupus

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Photo by Julian Jagtenberg on Pexels

While a large, long-running epidemiologic study was unable to conclude that ultraviolet (UV) radiation in sunlight can cause new-onset systemic lupus erythematosus (SLE), trends in the data suggested that it could, according to findings reported in the journal Arthritis Care & Research.

Participants in the  who were in the upper tertile (third) of estimated UV-B exposure had 28% higher rates of incident SLE during follow-up.

Similar numerical increases in risk with high estimated UV-B exposure were seen for specific lupus subtypes and manifestations, such as SLE with photosensitivity or with anti-Ro/La antibodies, which also fell short of statistical significance, they reported

The study’s relatively small number of new-onset SLE cases – only 297 out of about six million person-years of data – was the likely reason for the broad confidence intervals. The study did also find one lupus subtype with a statistically significant association with UV-B exposure: SLE with malar rash (HR 1.62 for top versus bottom tertile, 95% CI 1.04-2.52).

“We found no overall association between high UV radiation exposure and risk of overall SLE in these large cohorts of women prospectively followed for many years prior to SLE onset,” the researchers acknowledged.

“However, cumulative average UV radiation exposure in the highest tertile was associated with non-significant but suggestive increased risk of the subtype of SLE presenting with cutaneous antibodies, including anti-Ro and/or anti-La antibodies, and/or cutaneous involvement, including malar rash (acute cutaneous lupus) and/or photosensitivity, which tend to co-occur, and are biologically plausible,” they stated.

Photosensitivity is a hallmark of lupus, and sunlight exposure is known to cause disease flareups in people with established SLE. Among the 297 cases of incident SLE that developed in NHS participants, 58% included photosensitivity. Other risk factors include smoking and exposure to silica. Exposure to strong sunlight might be another one, since UV radiation disrupts skin keratinocytes, releasing antigens that could trigger autoimmune attack.

The decades-long American Nurses’ Health Study (NHS) I and II has the medical records of 240 000 participants, mostly female, who completed detailed questionnaires.

However, new-onset SLE is rare enough that, even with that many participants, there weren’t enough cases to be sure whether risk increases in the 30%-50% range were real.

Other major limitations included having to estimate UV exposure from participants’ residence, race serving as an inexact proxy of skin tone, and no data on sunburn history or sunscreen use.

Source: MedPage Today

Categories : Diseases, Syndromes and ConditionsTags :

Retinal Cells a Haven for Ebola and Other Viruses

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Credit: National Eye Institute

A specific cell within the retina, the retinal pigment epithelial cell, appears to be particularly good at housing Ebola and other viruses, according to new research published in the journal Frontiers in Virology.

“Inflammation of the eye, known as uveitis, is very common following infection with Ebola and we know the cells within the iris, at the front of the eye, as well as the retina have the capacity to play a major role in uveitis and act as hosts for microorganisms,” explained study senior author Professor Justine Smith at Flinders University.

“However, what we didn’t know was which out of the two was most responsible in the case of Ebola.”

“Patients with Ebola eye disease have characteristic retinal scars”

Professor Justine Smith

The study used cells from human eyes donated from the South Australia Eye Bank to investigate the ability of iris and retinal pigment epithelial cells to be infected by Ebola.

Cells were infected with Ebola virus, Reston virus (a type of ebolavirus that does not cause disease in humans) or Zika virus (another type of virus, but one that also can cause uveitis), while some were left uninfected for the duration of the trial.

While both types of cells allow replication of the Ebola virus, it was the retinal cells that showed much higher levels of infection.

“We also found similar results when looking at the cells infected with Reston virus and Zika virus,” said Professor Smith.

“Patients with Ebola eye disease have characteristic retinal scars, suggesting the retinal pigment epithelium is involved in the disease, so this finding is consistent with what eye doctors are seeing in the clinic.

“These retinal cells are good at eating things – called phagocytosis – and they play an essential part in the visual cycle by recycling our photoreceptors, so it makes sense that these cells would be a receptive haven for Ebola, as well as other viruses.”

The researchers say the study demonstrates an important target cell for Ebola infection in the eye and suggests the potential for these cells to be monitored during acute viral infection to identify patients at highest risk of uveitis.

“Amongst other issues, including pain and blurred vision, uveitis can ultimately lead to vision loss, so it’s important we find ways to diagnose it as early as possible to enable swift treatment,” said Professor Smith.

Source: Flinders University

Categories : Diseases, Syndromes and Conditions VaccinesTags :

Why The Malaria Vaccine Quickly Loses its Effectiveness

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Image source: Ekamalev at Unsplash

More than 600 000 people worldwide still die from malaria every year, according to the WHO. The vast majority of fatal cases of malaria are caused by the single-celled pathogen Plasmodium falciparum, which so far has only one approved vaccine against it, and its efficacy, which is already rather low, is also short-lived. A new study in Science Immunology may have the explanation: a lack of cross-reactivity in T helper cells.

The vaccine targets CSP, the quantitatively dominant protein on the surface of the “sporozoites”. Sporozoites are the stage of the malaria pathogen which is transmitted with the bite of the mosquito and enters human blood. “To improve the vaccine, we need to understand which protective antibodies are induced by the immunisation. But the production of such antibodies depends to a large extent on help from the so-called follicular T helper cells,” explained Dr Hedda Wardemann, immunologist and senior author of the study. “They ensure that B cells transform into antibody-producing plasma cells and memory B cells.”

To study the T helper cell response against CSP in detail, Dr Wardemann’s team examined the blood of volunteers infected with killed P. falciparum sporozoites from the vaccine strain. The volunteers were of European descent and had no prior contact with malaria pathogens. The researchers analysed the induced Plasmodium-specific follicular T helper cells at the single cell level. They focused on which sequences of CSP are recognised by the T helper cells’ receptors.

The analyses revealed that the T-cell receptors mainly targeted amino acids 311 to 333 of the CSP. But the researchers were stunned by another finding: there was virtually no cross-reactivity between the individual T-cell clones. “The receptors highly specifically bind only the CSP epitopes of the vaccine strain used. Even deviations of only a single amino acid component were not tolerated in some cases,” Dr Wardemann explained.

The immunologist points out that in the natural population of P. falciparum, sequence polymorphisms occur to a high degree in this region of the CSP. “The specificity of the T-cell clones prevents the constantly recurring natural infections with the pathogen from acting as a natural ‘booster.’ This could possibly explain why the protective effect of the malaria vaccine wears off so quickly,” Dr Wardemann said. The researcher recommends that further development of the vaccine should test whether inducing a broader spectrum of T helper cells could generate longer-lasting immune protection.

Source: German Cancer Research Centre

Categories : Diseases, Syndromes and Conditions General InterestTags :

Ancient Y. Pestis DNA Suggests Earlier Start to Black Death

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Plague doctor costume
Photo by Peter Kvetny on Unsplash

The origin of the mediaeval Black Death pandemic (AD 1346–1353) has long been studied because of its massive impact on population and society. However, most studies have focused on surviving European records, but they provide little insight into the actual origin of this world-changing pandemic. A new study published in Nature reconstructs the DNA of Yersinia pestis from ancient burial sites, suggesting that 1338 was the date of the first outbreak which would later go on to ravage Eurasia.

Conventional thinking puts the onset of the Black Death at 1346 in the Black Sea region. Recent analysis of historical, genetic and ecological data led to the suggestion that the emergence of Y. pestis branches occurred more than a century before the beginning of the Black Death. According to the proposed model, this initial diversification was linked with territorial expansions of the Mongol Empire across Eurasia during the early thirteenth century. But in this study, the researched present ancient Y. pestis data from central Eurasia supporting a fourteenth-century emergence – putting the emergence a full century later, closer to the conventionally accepted 1346 date.

Until now, the most debated archaeological evidence on the pandemic’s initiation came from cemeteries located near Lake Issyk-Kul in modern-day Kyrgyzstan.

These sites are thought to have housed victims of a fourteenth-century epidemic as tombstone inscriptions directly dated to 1338–1339 state ‘pestilence’ as the cause of death for the buried individuals.

Researchers analysed ancient DNA data from seven individuals exhumed from two of these cemeteries, Kara-Djigach and Burana. The combination of archaeological, historical and ancient genomic data implicates Y. pestis in this epidemic event.

Two reconstructed ancient Y. pestis genomes represent a single strain and are identified as the most recent common ancestor of a major diversification commonly associated with the pandemic’s emergence, here dated to the first half of the fourteenth century. Comparing these ancient genomes present-day diversity from Y. pestis reservoirs in the Tian Shan area where China, Kazakhstan and Kyrgyzstan meet supports a local emergence of the recovered ancient strain.

Exactly how Y. pestis made it to western Eurasia is unknown, but previous research suggested that both warfare and/or trade networks were some of the main contributors in the spread of Y. pestis. However, the lack of any military campaigns in this period and the proximity of trans-Asian networks plus trade items at the site suggest trade playing a role in Y. pestis dissemination.

The authors conclude that “Although the ancient Y. pestis genomes reported in this Article offer biological evidence to settle an old debate, it is the unique historical and archaeological contexts that define our study’s scope and importance. As such, we envision that future synergies will continue to reveal important insights for a detailed reconstruction of the processes that triggered the second plague pandemic.”

Categories : Diseases, Syndromes and Conditions PaediatricsTags :

Early Intervention in Spinal Muscular Atrophy is Key

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According to the results of a new study published in Developmental Medicine & Child Neurology, early identification and treatment of patients with spinal muscular atrophy (SMA) can greatly reduce the total financial costs associated with the condition. 

A genetic disorder, SMA is characterised by progressive muscle weakness, reduced tone with associated destruction of alpha motor units. There are four main subtypes of spinal muscular atrophy defined by the age of onset and severity with type 0 presenting in utero and causing death within the first months of life and type 4 in adulthood, causing mild weakness and no effect on lifespan. Understanding the underlying pathophysiology, subtypes, and emerging treatments is key to treating patients with spinal muscular atrophy effectively.

Analysing the data of 149 SMA patients, (93 untreated, 42 treated after symptoms arose, and 14 treated after early diagnosis), the total societal cost was lower in untreated patients (due to high drug costs in treated patients), but costs were lower for treated patients who were identified by newborn screening than for treated patients identified due to the development of symptoms. 

“These data are important as they are issued from a real-life prospective collection. They demonstrate clearly that as long as the decision to reimburse treatments for SMA has been made, newborn screening becomes a no-brainer—not only because it gives patients a much better future, but also because it saves a significant amount of money for the taxpayer,” said senior author Laurent Servais, PhD, of the University of Liege, in Belgium and the University of Oxford, in the UK. “Using these data issued from the real world, we are working currently on a model that estimates the lifetime cost of the different strategies.” 

Source: Wiley

Categories : Diseases, Syndromes and Conditions VaccinesTags :

A Crystal Clear Look at Rabies Opens up New Vaccines

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Scientists from La Jolla Institute for Immunology and the Institut Pasteur have shed light on the structure of the rabies virus glycoprotein, seen here. Credit: Heather Callaway, Ph.D., LJI

In a new study, researchers from La Jolla Institute have unveiled one of the first high-resolution looks at the rabies virus glycoprotein in its vulnerable ‘trimeric’ form. These new images, published in Science Advances, may open up a new vaccine for the deadly virus.

The CDC estimates that 59 000 people die from rabies virus every year, with 40% of those bitten by rabid animals being under 15. Some victims, especially kids, don’t realise they’ve been exposed until it is too late. The intense rabies treatment regimen is not widely available and the average $3800 is out of the reach of less well-off families.

Rabies vaccines, rather than treatments, are much more affordable and easier to administer. But according to Professor Erica Ollmann Saphire, PhD, of the La Jolla Institute, lead researcher of the new study, those vaccines also come with a massive downside.

“Rabies vaccines don’t provide lifelong protection. You have to get your pets boosted every year to three years,” she said. “Right now, rabies vaccines for humans and domestic animals are made from killed virus. But this inactivation process can cause the molecules to become misshapen – so these vaccines aren’t showing the right form to the immune system. If we made a better shaped, better structured vaccine, would immunity last longer?”

“The rabies glycoprotein is the only protein that rabies expresses on its surface, which means it is going to be the major target of neutralising antibodies during an infection,” said LJI Postdoctoral Fellow Heather Callaway, PhD, the study’s first author.

“Rabies is the most lethal virus we know. It is so much a part of our history – we’ve lived with its spectre for hundreds of years,” added Prof Saphire. “Yet scientists have never observed the organisation of its surface molecule. It is important to understand that structure to make more effective vaccines and treatments – and to understand how rabies and other viruses like it enter cells.”

Shapeshifting Rabies virus evades antibodies

Why rabies vaccines don’t provide long-term protection is still unclear, but they do know that its shape-shifting proteins are a problem.

The rabies glycoprotein has sequences that unfold and flip upward when needed, like a Swiss Army knife. The glycoprotein can shift back and forth between pre-fusion (before fusing with a host cell) and post-fusion forms. It can also come apart, changing from a trimer structure (where three copies come together in a bundle) to a monomer (one copy by itself).

This shapeshifting can make rabies invisible to human antibodies, which are built to recognise a single site on a protein. They cannot follow along when a protein transforms to hide or move those sites.

The new study gives scientists a critical picture of the correct glycoprotein form to target for antibody protection.

Capturing the glycoprotein at last

Over the course of three years, Callaway worked to stabilise and freeze the rabies glycoprotein in its pre-fusion form.

Callaway paired the glycoprotein with a human antibody, which helped her pinpoint one site where the viral structure is vulnerable to antibody attacks. The researchers then captured a 3D image of the glycoprotein using cutting-edge cryo-electron microscope equipment at LJI. 

The new 3D structure highlights several key features researchers hadn’t seen before. Importantly, the structure shows the fusion peptides, the way they appear in real life. These two important sequences link the bottom of the glycoprotein to the viral membrane, but project into the target cell during infection. Getting stable image of these sequences is challenging: other rabies researchers have had to cut them off to try to get images of the glycoprotein.

Dr Callaway solved this problem by capturing the rabies glycoprotein in detergent molecules. “That let us see how the fusion sequences are attached before they snap upward during infection,” said Prof Saphire.

Now that scientists have a clear view of this viral structure, they can better design vaccines to create antibodies with a better picture of the targt.

“Instead of being exposed to four-plus different protein shapes, your immune system should really just see one – the right one,” said Dr Callaway. “This could lead to a better vaccine.”

Preventing a family of viruses

More images are needed of rabies virus and its relatives together with neutralising antibodies, and could reveal common antibody targets for lyssaviruses, which can also infect humans and animals. According to Dr Callaway, scientists are working on solving several of these structures, which could reveal antibody targets that lyssaviruses have in common.

“Because we didn’t have these structures of the rabies virus in this conformational state before, it’s been hard to design a broad-spectrum vaccine,” Dr Callaway said.

Source: La Jolla Institute for Immunology

Categories : Diseases, Syndromes and ConditionsTags :

Oil Exploration Software Reveals why Cystic Fibrosis Drugs Fail

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Photo by WORKSITE Ltd. on Unsplash

Scientists have harnessed a computational approach usually used in oil exploration to search for cures for rare genetic diseases such cystic fibrosis. By using the method to analyse the spatial relationships between different variants of a protein, instead of the relationships between test wells across an oil field, the researchers can obtain valuable information on how disease affects a protein’s underlying shape and how drugs can restore that shape to normal.

The new method, detailed in the journal Structure, runs with just a few gene sequences collected from people with disease. Then, it determines how the structure of each corresponding variant protein is associated with its function, and how this functional structure can affect pathology and be repaired by therapeutics. To test the techniques, the researchers showed why existing drugs for cystic fibrosis fall short of curing the disease.

“This is an important step forward for treating rare diseases,” said senior author William Balch, PhD, professor of Molecular Medicine at Scripps Research. “The fact that we can get so much information from a few gene sequences is really unprecedented.”

Studies on inherited diseases often rely on the precise three-dimensional shape of a protein affected by disease. But genetic diseases can be caused by thousands of gene variants, some of which destabilise or change the protein shape in ways that make isolating the protein for further investigation much more difficult than usual.

Prof Balch, with Scripps Research senior staff scientist Chao Wang and staff scientist Frédéric Anglés, instead wanted to use natural variation to their advantage. So the group developed a method called variation-capture (VarC) mapping to analyse the natural array of gene sequences which exist in the human population and determine the mechanism by which they each changed a protein’s structure to cause disease.

Among other statistical tools, Prof Balch’s group integrated the methods that oil companies use to draw inferences about the location of an oil reservoir using only a small number of test wells. With only a few gene sequences, this let the researchers determine the most likely structural mechanisms driving function for each variant leading to disease, as well as model how drugs impacted those structural functions.

In the case of cystic fibrosis, disease is caused by genetic variants in the cystic fibrosis transmembrane conductance regulator (CFTR), leading to a buildup of mucus in the lungs. More than 2000 variants of the CFTR gene have been identified, and many of these variants were known to have very different effects on the CFTR protein, but it has been difficult to compare and contrast these variants to guide how patients with different variants should be treated differently in the clinic.

“When you want to treat patients, you really have to appreciate that different therapeutics might target different variants in completely different ways, and that’s why our approach that looks at many different variants all at once is so powerful,” explained Wang. “Our approach not only reveals how these variants contribute to each patient’s biology, but also connects them in a way that each variant can inform how to manage the others.”

The researchers input about 60 genetic variants found in the cystic fibrosis population into their VarC program. The analysis captured how each amino acid residue talks to every other residue to generate function, and revealed that most of the cystic fibrosis patients had the same net effect on the protein: an unstable inner core.

When the program modelled how existing cystic fibrosis drugs impacted the structures, the researchers discovered that, despite the drugs’ effect on CFTR structure, none of them effectively stabilised the protein’s hidden inner core. This was like how the location of an oil reservoir in a complex landscape can be revealed by test wells.

Now that the researchers better understand the structural deficiencies in CFTR in cystic fibrosis patients, they say that the job of developing an effective drug to fix it is much easier. Potential compounds can be modelled in advance of lab experiments for their effect on the inner core of the CFTR protein.

“In most drug discovery, you throw thousands of compounds at a protein and see which ones change it, often without fully understanding the mechanism,” said Prof Balch. “To fix a thing, you must first understand the problem.”

Already, his team is applying the method to other rare genetic diseases, as well as pursuing new drugs to treat cystic fibrosis.

Source: Scripps Research Institute

Categories : Diseases, Syndromes and Conditions GeneticsTags :

One in 500 Men Carry an Extra Sex Chromosome, Increasing Disease Risk

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Around one in 500 men could be carrying an extra sex chromosome (X or Y), putting them at increased risk of diseases such as type 2 diabetes, atherosclerosis and thrombosis, according to a study published in Genetics in Medicine.

Researchers from the universities of Cambridge and Exeter analysed genetic data on 200 000 men aged 40 to 70 from UK Biobank. They found 356 men who carried either an extra X chromosome or an extra Y chromosome.

Some men have an extra X or Y chromosome – XXY or XYY, which is usually not obvious without a genetic test. Men with extra X chromosomes, a condition known as Klinefelter syndrome, are sometimes identified during investigations of delayed puberty and infertility; however, most are unaware that they have this condition. Men with an extra Y chromosome tend to be taller as boys and adults, but otherwise they have no distinctive physical features.

In today’s study, the researchers identified 213 men with an extra X chromosome and 143 men with an extra Y chromosome. As the participants in UK Biobank tend to be ‘healthier’ than the general population, this suggests that around one in 500 men may carry an extra X or Y chromosome.

Only a small minority of these men had a diagnosis of sex chromosome abnormality on their medical records or by self-report: fewer than one in four (23%) men with XXY and only one of the 143 XYY men (0.7%) had a known diagnosis.

By linking genetic data to routine health records, the team found that men with XXY have much higher chances of reproductive problems, including a three-fold higher risk of delayed puberty and a four-fold higher risk of being childless. These men also had significantly lower blood concentrations of testosterone. Men with XYY appeared to have a normal reproductive function.

Men with either XXY or XYY had higher risks of several other health conditions: a three-fold higher risk of developing type 2 diabetes, six-fold risk of venous thrombosis, three-fold risk of pulmonary embolism, and four-fold risk of chronic obstructive pulmonary disease (COPD).

It is unclear why an extra chromosome should increase the risk, said the researchers, or why the risks were so similar regardless of which sex chromosome was duplicated.

Yajie Zhao, a PhD student at the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge, the study’s first author, said: “Even though a significant number of men carry an extra sex chromosome, very few of them are likely to be aware of this. This extra chromosome means that they have substantially higher risks of a number of common metabolic, vascular, and respiratory diseases — diseases that may be preventable.”

Professor Ken Ong, also from the MRC Epidemiology Unit at Cambridge and joint senior author, added: “Genetic testing can detect chromosomal abnormalities fairly easily, so it might be helpful if XXY and XYY were more widely tested for in men who present to their doctor with a relevant health concern.

“We’d need more research to assess whether there is additional value in wider screening for unusual chromosomes in the general population, but this could potentially lead to early interventions to help them avoid the related diseases.”

Professor Anna Murray, at the University of Exeter, said: “Our study is important because it starts from the genetics and tells us about the potential health impacts of having an extra sex chromosome in an older population, without being biased by only testing men with certain features as has often been done in the past.”

Previous studies have found that around one in 1,000 females have an additional X chromosome, which can result in delayed language development and accelerated growth until puberty, as well as lower IQ levels compared to their peers.

Source: University of Cambridge

Categories : Diseases, Syndromes and ConditionsTags :

Amid Measles Spike, WHO Warns of Outbreaks of Vaccine-preventable Diseases

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Syringe injection into the upper arm
Image source: NCI on Unsplash

An increase in measles cases in January and February 2022 is a worrying sign of a heightened risk for the spread of vaccine-preventable diseases and could trigger larger outbreaks, particularly of measles affecting millions of children in 2022, warn WHO and UNICEF.

The agencies warn that pandemic-related disruptions, widening vaccine access inequality, and the under-resourcing of routine immunisation are leaving too many children open to measles and other vaccine-preventable diseases.

The risk for large outbreaks has increased as communities relax social distancing practices and other anti-COVID measures. Additionally, the displacement of millions of people due to conflicts and crises including in Ukraine, Ethiopia, Somalia and Afghanistan, is causing disruptions in immunisation services, a lack of clean water and sanitation, and overcrowding, all of which increase the risk of vaccine-preventable disease outbreaks.

Almost 17 338 measles cases were reported worldwide in January and February 2022, compared to 9665 during the first two months of 2021. Measles is highly contagious, so cases tend to show up quickly when vaccinations decline. The agencies are concerned that outbreaks of measles could also forewarn outbreaks of other diseases that do not spread as rapidly.

Apart from its direct, sometimes lethal, effect on the body, the measles virus also weakens the immune system rendering a child more vulnerable for months after to other infectious diseases like pneumonia and diarrhoea.  Most cases occur in settings that have faced social and economic hardships due to COVID, conflict or other crises, and have chronically weak health system infrastructure and insecurity.

“Measles is more than a dangerous and potentially deadly disease. It is also an early indication that there are gaps in our global immunization coverage, gaps vulnerable children cannot afford,” said Catherine Russell, UNICEF Executive Director. “It is encouraging that people in many communities are beginning to feel protected enough from COVID to return to more social activities. But doing so in places where children are not receiving routine vaccination creates the perfect storm for the spread of a disease like measles.”  

In 2020, 23 million children missed out on basic childhood vaccines through routine health services, the highest number since 2009 and 3.7 million more than in 2019.

Top 5 countries with reported measles cases in the last 12 months, until April 2022 1

CountryReported Measles casesRate per million casesFirst dose measles coverage (%), 20192First dose measles coverage (%), 20203
Somalia90685544646
Yemen36291196768
Afghanistan3628916466
Nigeria12 341585454
Ethiopia3039266058

As of April 2022, the agencies report 21 large and disruptive measles outbreaks around the world in the last 12 months. Most of the measles cases were reported in Africa and the East Mediterranean region. The figures are likely higher as the pandemic has disrupted surveillance systems globally, with potential underreporting.

Countries with the largest measles outbreaks since the past year include Somalia, Yemen, Nigeria, Afghanistan and Ethiopia. Insufficient measles vaccine coverage is the major reason for outbreaks, wherever they occur.

“The COVID pandemic has interrupted immunisation services, health systems have been overwhelmed, and we are now seeing a resurgence of deadly diseases including measles. For many other diseases, the impact of these disruptions to immunisation services will be felt for decades to come,” said Dr Tedros Adhanom Ghebreyesus, Director-General of the World Health Organization. “Now is the moment to get essential immunisation back on track and launch catch-up campaigns so that everybody can have access to these life-saving vaccines.”

As of 1 April 2022, 57 vaccine-preventable disease campaigns in 43 countries that were scheduled to take place since the start of the pandemic are still postponed, impacting 203 million people, most of whom are children. Of these, 19 are measles campaigns, which put 73 million children at risk of measles due to missed vaccinations. In Ukraine, the measles catch-up campaign of 2019 was interrupted due to the COVID pandemic and thereafter due to the war. Routine and catch-up campaigns are needed wherever access is possible to help make sure there are not repeated outbreaks as in 2017–2019, when there were over 115 000 cases of measles and 41 deaths in the country – this was the highest incidence in Europe.

Coverage at or above 95% with 2 doses of the safe and effective measles vaccine can protect children against measles. However, COVID pandemic related disruptions have delayed the introduction of the second dose of the measles vaccine in many countries.

Source: World Health Organization