Category: Uncategorized

FDA Approves New Medication for the Treatment of Progeria

On Friday, the FDA gave approval for the first medication able to actually treat the rare disease, Hutchinson–Gilford progeria syndrome (HGPS), which causes premature aging. Prior to the development of this medication in 2007, only palliative care was available to treat the disease.  

HGPS is an extremely rare disease affecting only some 400 people worldwide, the disease is caused by a chance genetic mutation that causes the buildup of a protein called progerin in the cells of the afflicted person, giving the disease its name. The disorder causes stunted growth, alopecia, and aged skin appearance. Children who have the disease develop atherosclerosis, and most die of stroke. The average life expectancy for sufferers is 14 1/2 years. The medication blocks the buildup of progerin, impeding the premature aging effect. 

A clinical trial followed participants for 11 years, and the medication was found to extend life by 2 1/2 years. The oldest participant is 24, having taken the medication for 13 years.

The new medication, Zokinvy, also known as lonafarnib, is expected to be expensive due to the small number of patients but the manufacturer, Eiger, said that it will offer finance plans to make it affordable for all patients. Eiger also helped finance the research for the treatment, along with the Progeria Research Foundation.

“This is just the first. We’ll find more and better treatments,” said Dr Leslie Gordon, the foundation’s medical director.

Source: Medical Xpress

New Research Links Bladder Pain Flare-ups to Pollen

High pollen counts have long been associated with allergic rhinitis with its well known symptoms such as itching eyes, running nose and sneezing, but now new research suggests that it may be aggravating a completely unexpected condition: chronic bladder pain.

In the United States, more than 10 million people are believed to suffer from urologic chronic pelvic pain syndrome (UCPPS) – a mysterious cluster of problems which include bladder pain syndrome and interstitial cystitis in women, chronic pelvic pain syndrome, and in men, chronic prostatitis.

Researchers regard it as “one of the most frustrating urologic conditions to understand and manage”, requiring a multidisciplinary and multimodal approach to management. However, it has been known to be associated with flare-ups of allergies, prompting Washington University epidemiologist Siobhan Sutcliffe to lead a team to investigate a possible connection. Their study recruited 290 participants diagnosed with UCPPS, and tracked pollen levels from three days before and on the day against UCPPS symptoms. Daily pollen counts did not correlate with UCPPS symptoms, but in participants with when pollen count was medium or high, there was a significant association with symptoms. The mast cell activation involved in pollen allergies release histamines which may be a contributing factor in UCPPS. Evidence for this comes from animal studies which have shown that exposure to histamine makes the bladder hypersensitive. Histamines also stays resident in the bladder longer than in the bloodstream as they are excreted via urine.

Sutcliffe said: “Our study provides evidence to suggest increased pollen counts may trigger symptom flares in people living with UCPPS.”This research may bring an avenue for some now forms of relief to UCPPS sufferers, but further research is needed to eliminate confounding factors, such as environmental factors associated with high pollen counts – strong levels of wind and thunderstorms may trigger pollen allergies but also exert some other kind of separate influence.

“Patients may benefit from taking antihistamines on days with high pollen levels, or from allergy testing and immunotherapy,” concluded Sutcliffe.

Source: Science Alert

Journal information: Javed I, Yu T, Li J et al. Does Pollen Trigger Urologic Chronic Pelvic Pain Syndrome Flares? A Case-Crossover Analysis in the Multidisciplinary Approach to the Study of Chronic Pelvic Pain Research Network. Journal of Urology. 2020. doi:10.1097/ju.0000000000001482

Pfizer/BioNTech Vaccine Effective against SA and UK COVID Variants

Amidst concerns that the SARS-CoV-2 virus might escape the protection of vaccines, initial results from new research shows that the Pfizer/BioNTech vaccine remains effective against the South African and UK COVID variants.

The new variants, which are much more transmissible, had created concern that due to mutations in their structure, they might not achieve the full protection of the current vaccines, especially in the SA variant.

However, this is a preliminary study that has not yet been through a peer review process, and the worrying E484K mutation in the South African strain which has been shown to reduce antibody recognition has not been tested on – that is still to be done.

Using blood samples from 20 individuals who had received the Pfizer/BioNTech vaccine, antibodies in the samples successfully defended against the virus variants. The results were made available on the bioRxiv site. Pfizer chief scientific officer Dr Philip Dormitzer said that “it was a very reassuring finding that at least this mutation, which was one of the ones people are most concerned about, does not seem to be a problem” for the vaccine.

However, should future mutations of SARS-CoV-2 achieve viral escape from the vaccines, the necessary adjustments to counter this could be made to the vaccines within a matter of weeks. Dormitzer said that this work was only the start “ongoing monitoring of virus changes to see if any of them might impact on vaccine coverage.”

Source: Medical Xpress

Medical Aid Schemes to Share Cost of Nationwide Vaccination

As arrangements are being made to pay for the COVID vaccination programme for South Africa, medical aid schemes are expected to contribute to the cost towards ensuring at least 67% of the population receives a vaccine, which is the minimum number to establish herd immunity.

Across South Africa, there are some 9 million medical aid beneficiaries, making up some 16% of the population and who collectively spent R186 billion last year on healthcare. The total cost of providing sufficient vaccines for the South African population is thought to range from R5 billion to R20 billion, depending on whether the vaccine is simply bought for the commercial price or whether the distribution and administration costs are factored in as well.

Discussions into paying for the mass vaccinations have suggested that mass-employers, such as mines, ought to contribute  This week, the Council for Medical Schemes (CMS) confirmed that vaccination would be a minimum prescribed benefit, so this will not be paid for out of medical savings.”The CMS acknowledges that there may be an additional cost burden to medical schemes for the provision of the vaccine, but this is not expected to be prohibitively high,” the body said. “In addition, industry associations have assured the CMS that vaccine costs can be absorbed by most medical schemes.”

South Africa’s vaccine source is not yet clear, although President Cyril Ramaphosa has hinted that Canada may share its excess vaccine stock. Canada currently has enough vaccine pre-purchase agreements to vaccinate its population five times over.

Source: Business Insider

Amazon to Enter the Health Industry

With the launch of Amazon Pharmacy in the US last November, online pharmacy companies are worried about the industry giant Amazon’s entry into the healthcare industry.

The head of Quick Meds, an online pharmacy firm that had only recently been established, believes it will have a huge impact on the industry.

“I’m worried,” he said. “They’ll have a massive marketing budget, and they’ll definitely take a sizeable chunk out of every other pharmacy on the market. There will be closures as a direct result of it.”

Pharmacies have complex, inefficient supply chains which the online retail giant could outcompete with its massive, streamlined operations. Amazon is already purchasing its first fleet of aircraft to compete directly with large courier companies like FedEx, taking advantage of plummeting aircraft prices in the wake of the pandemic.

Scott Galloway, professor of marketing at NYU Stern, entrepreneur and author of Post Corona: From Crisis to Opportunity, believes that consumers will benefit in the short and medium term.”For the most part of Amazon’s history, as a consumer you’re getting products for near cost or sometimes even below cost and that has just been an incredible boon for consumers and shareholders,” he said.

The company would use information from its other business areas to create a database of each customer’s health, enabling it to target goods and services.

“With their new wearable Amazon Halo, the company can build a 3D image of their consumers and they can then combine this with the foods you eat through Whole Foods, data from Amazon Prime and Alexa, and information such as your post code, relationship status, demographic data,” said Mr Galloway. Compared to the largely reactive medical industry, where consumers seek out medical services, this is a sea change.

“They can use this to offer proactive healthcare services,” he said.

Source: BBC News

Genetic Basis for Why Lithium is Effective for Only Some

Lithium was the first effective mood stabiliser for bipolar disorder (BD) and still the first-line treatment, but it is effective only in about 30% of patients, while the remainder are unresponsive. A new study implicates the decreased activation of a certain gene.

The study shows that decreased activation of a gene called LEF1 disrupts ordinary neuronal function and promotes hyperexcitability in brain cells—a hallmark of BD. The findings could lead to development of a new drug target for BD as well as a biomarker for lithium nonresponsiveness.

“Only one-third of patients respond to lithium with disappearance of the symptoms,” says Renata Santos, co-first author on the study. “We were interested in the molecular mechanisms behind lithium resistance, what was blocking lithium treatment in nonresponders. We found that LEF1 was deficient in neurons derived from nonresponders. We were excited to see that it was possible to increase LEF1 and its dependent genes, making it a new target for therapeutic intervention in BD.”

The study built on a previous one which discovered differences in the neurons of those with lithium unresponsiveness.

Using stem cell technology, the team grew neurons sampled from patients’ blood, who had BD and were responsive or unresponsive to lithium, and from normal patients. They compared the genetic characteristics and behaviour of those neurons.Lithium enables beta-catenin to pair with LEF1 to promote neural regulation in the normal controls and lithium responders.

Administration of valproic acid, a typical treatment for non-responders, increased LEF1 levels as well as activation of related genes. Silencing the LEF1 gene also deactivated related genes.”When we silenced the LEF1 gene, the neurons became hyperexcitable,” says Shani Stern, co-first author on the study. “And when we used valproic acid, expression of LEF1 increased, and we lowered the hyperexcitability. That shows there is a causative relationship, and that’s why we think LEF1 may be a possible target for drug therapy.”

The team wants to look at other types of cells, such as astrocytes, to better understand the role of LEF1 in the bipolar neural network.”LEF1 works in various ways in different parts of the body, so you can’t just turn it on everywhere,” said  co-corresponding author Carol Marchettor. “You want to be more specific, either activating LEF1 on a targeted basis or activating downstream genes that are relevant for lithium nonresponsiveness.”

Source: Medical Xpress

Vitamin D to Treat COVID: No Time for Perfect Evidence

An Op-Ed in MedPage Today highlights the evidence for the potential role of vitamin D in the fight against COVID. Low vitamin D levels are being linked to COVID fatality and ICU admission.

Some 40% of the US population is vitamin D deficient, while in Africa, some 20% are thought to be vitamin D deficient. With South Africa’s seasonal variations, vitamin D levels in adults and children may be adequate in summer and autumn but deficient in the winter, even given its ethnically diverse population.

The article reviews the evidence in favour of and against administering Vitamin D as an acute treatment. Causality can be inferred from correlational data by satisfying various criteria which includes consistency, specificity, temporality, and dose-responsiveness. This same approach was used to draw the link between lung cancer and smoking in 1964.
Studies have shown some striking associations between vitamin D sufficiency and COVID outcomes. In a study of 154 patients, patients with vitamin D deficiency (serum 25-OH-D <20 ng/mL) had a fatality rate of 21%, compared to a rate of 3% for those with higher levels. Firming up the case for causation, there is some randomised experimental data.

In a study of 76 COVID patients in Spain, 1 of 50 of patients who were given open-label calcifediol, a potent vitamin D analogue, were admitted to ICU whilst 13 of 26 who did not receive vitamin D were admitted to ICU.
Nursing homes in France often give vitamin D injections, and a quasi-experimental study showed that only 10% of nursing home residents receiving vitamin D progressed to severe COVID, compared to 31% who were not.

The authors conclude that doctors cannot always wait for perfect evidence as they have a duty of care, and given vitamin D’s safety profile, the evidence for its protective role should be acted upon.
Source: MedPage Today

Oncologist Forgives $650 000 in Patient Debts

An oncologist in the United States has forgiven $650 000 in patients’ debts. After 30 years of business, Dr Omar Atiq closed down his Arkansas cancer treatment centre last year. He had previously engaged a debt collector company to chase up clients’ outstanding bills.

“Over time I realised that there are people who just are unable to pay,” Dr Atiq said to ABC’s Good Morning America. “So my wife and I, as a family, we thought about it and looked at forgiving all the debt. We saw that we could do it and then just went ahead and did it.”

Dr Atiq is originally from Pakistan, and founded the Arkansas Cancer Clinic in 1991.”We thought there was not a better time to do this than during a pandemic that has decimated homes, people’s lives and businesses and all sorts of stuff,” Dr Atiq said, quoted by the Arkansas Democrat-Gazette.

When sending his Christmas greeting card to patients, he wrote, “The Arkansas Cancer Clinic was proud to serve you as a patient. Although various health insurances pay most of the bills for [the] majority of patients, even the deductibles and co-pays can be burdensome. Unfortunately, that is the way our health care system currently works. The clinic has decided to forego all balances owed to the clinic by its patients. Happy Holidays.”
In the view of the president of the debt collection company he engaged, Dr Atiq is “a very caring individual”.

Bea Cheesman, of RMC of America, said, “He’s always been extremely easy to work with as a client. It’s just a wonderful thing that he and his family did in forgiving this debt because the people with oncology bills do have more challenges than the bulk of the population.”Dr Atiq approached the Arkansas Medical Society to ensure there was nothing improper about the move.

Source:BBC News

Antibiotic Overuse by Children’s Hospitals Contributing to Antibiotic Resistance

Children’s hospitals may be contributing to antibiotic resistance by overprescription of antibiotics, according to a recent study.

The study, conducted by the University of Alabama at Birmingham (UAB),   found that in 51 children’s hospitals across the United States, rates of antibiotic administration ranged from 22% to 52%. Approximately a quarter of children receiving antibiotics were receiving them incorrectly. This adds to a growing body of evidence that points to antibiotics overuse and misuse by children’s hospitals – which ought to know better.Study co-author, Dr Jason Newland said, “There’s no doubt: We’ve seen some extra use of antibiotics, The impact of the pandemic on antibiotic use will be significant.

“The study’s numbers are likely an underestimate since the research involved 32 children’s hospitals already working together on proper antibiotic use. Newland said the US’ more than 250 children’s hospitals need to improve. Even though COVID fears have reduced the numbers of children’s hospital visits, antibiotics are still being prescribed via telemedicine.

“I hear a lot about antibiotic use for the ‘just in case’ scenarios,” said Dr Joshua Watson, at Nationwide Children’s Hospital in Ohio. “We underestimate the downsides.”

Dr Shannon Ross, an associate professor of paediatrics and microbiology at UAB, said that not all doctors have been taught the correct use of antibiotics. Regarding this overuse, she said, “Many of us don’t realize we’re doing it. It’s sort of not knowing what you’re doing until someone tells you.”
Unnecessary antibiotic use is a problem, and the pandemic “has thrown a little bit of gas on the fire,” said Dr Mark Schleiss, a paediatrics professor at the University of Minnesota Medical School.

“It’s irresponsible,” said Christina Fuhrman, who almost lost her infant daughter to a Clostridium difficile infection, and who now advocates for correct antibiotic use. Along with parents begging for antibiotics in paediatricians’ offices, the situation is “creating a monster.”
Many studies have attested to the rise of C. diff in children, which causes gastrointestinal problems. A 2017 study found that cases of a certain multidrug-resistant Enterobacteriaceae type rose 700% in American children in just eight years. And a steady stream of research points to the stubborn prevalence in kids of the better-known MRSA, or methicillin-resistant Staphylococcus aureus.

“It’s getting more and more worrisome,” said Ross. “We have had patients we have not been able to treat because we’ve had no antibiotics available.”

Source: News-Medical.Net

Journal information: Tribble A, Lee B, Flett K et al. Appropriateness of Antibiotic Prescribing in United States Children’s Hospitals: A National Point Prevalence Survey. Clinical Infectious Diseases. 2020;71(8):e226-e234. doi:10.1093/cid/ciaa036 

Unmedicated Autism Associated With Substance Abuse

A Taiwanese study has shown that individuals diagnosed with untreated autism spectrum disorder (ASD) have higher rates of substance abuse compared to those on treatment.

The researchers used inpatient and outpatient data of 6 599 individuals with ASD who had at least 3 outpatients visits for ASD, drawn from the Taiwan National Health Insurance Research Database. They found an increased risk of substance use disorder (SUD) among those who were not receiving medication for ASD (adjusted hazard ratio 2.33, 95% CI 1.89-2.87). The risk for drug abuse was three times higher, and the risk for alcohol abuse was two times higher.

Additionally, those with comorbid SUD had over a three times greater risk of death over a follow-up period of 8.1 years.Those taking psychotropic agents had a 40% reduction for SUD risk when taking one agent, and a 63% reduction with a multiagent.

There were several comorbidities of psychiatric disorders seen in patients with ASD, such as intellectual disability, attention deficit hyperactivity disorder, tic disorder, epilepsy, obsessive-compulsive disorder, mood disorder, anxiety disorder, and impulse control disorder. However, individuals with ASD had a higher risk of SUD even compared with matched controls with the same comorbidities. SUD risk was highest with certain comorbidities; untreated ASD with comorbid tic disorder was 6 times higher; with a comorbid impulse control disorder, it was five times higher.

The researchers stated that these are critical findings, but of limited use due to the “umbrella term” of substance use disorder, and further studies will be needed to examine the specific types of drug use amongst individuals with ASD. Future research could investigate whether non-pharmaceutical treatments such as behavioural therapy had the same effect.They conclude that screening  individuals with ASD for SUD is important, given the findings of the study.

Source: MedPage Today

Journal information: Huang J, Yang F, Chien W, et al. Risk of Substance Use Disorder and Its Associations With Comorbidities and Psychotropic Agents in Patients With Autism. JAMA Pediatr. Published online January 04, 2021. doi:10.1001/jamapediatrics.2020.5371