A new gene therapy shows early promise against sickle cell anaemia, researchers say.

The therapy targets the genetic flaw that causes sickle cell. In a small group of patients, researchers said the therapy appears safe and effective enough to keep moving forward into larger trials.

Bouts of severe pain

“We’ve been talking about using gene therapy for sickle cell anaemia for years. Now it’s finally coming of age,” said Dr John Tisdale, a scientist with the US National Institutes of Health who is leading the ongoing research.

Sickle cell anaemia is an inherited disease that mainly affects people of African, South American or Mediterranean descent. In the United States, about one in 365 black children is born with the condition, according to the NIH.

It arises when a person inherits two copies of an abnormal haemoglobin gene – one from each parent. Haemoglobin is an oxygen-carrying protein within red blood cells.

When those cells contain “sickle” haemoglobin, they become crescent-shaped, rather than disk-shaped. They tend to be sticky and can clot – causing symptoms such as fatigue and shortness of breath.

Many people with sickle cell also suffer bouts of severe pain due to poor blood circulation. Over time, the disease can damage organs throughout the body, leading to complications like kidney disease and stroke.

“It’s a devastating disease,” Tisdale said. “People often die early, in their 40s.”

He presented the preliminary results this week at the American Society of Hematology’s annual meeting, in San Diego.

Donor must be genetic match

There are treatments, such as the cancer drug hydroxyurea, which can help prevent severe pain and certain other complications. But the medications don’t change the course of the disease.

There is one way to “fix” it, Tisdale said: a bone marrow transplant.

The procedure destroys a person’s existing bone marrow stem cells – which are producing the faulty red blood cells – and replaces them with stem cells from a healthy donor.

The problem, Tisdale said, is that the donor has to be a genetic match (usually a sibling) who is free of sickle cell.

“That covers about 10% of patients,” he said. “We need something for the other 90%.”

That’s where gene therapy could come in. Tisdale explained the basics: First, doctors remove a supply of blood-forming stem cells from the patient, before using chemotherapy to wipe out the remaining stem cells.

A resolution of anaemia and pain

Next, they use a modified virus to deliver a “therapeutic” gene into the extracted stem cells. The gene is an “anti-sickling” version of the beta globulin gene, which is mutated in sickle cell.

Those genetically modified stem cells are then infused back into the patient – with the aim of repopulating the body with normal red blood cells.

Tisdale’s team initially treated seven patients with severe sickle cell who’d suffered complications from the disease. The gene therapy did produce new red blood cells, but at fairly low levels. So the researchers tweaked the procedure, and tested it in six other patients.

Of those patients, four had been followed for about three months on average as of May 2018. By that point, all had at least as many normal red blood cells as sickle-affected cells.

“We’re also seeing a resolution of anaemia and pain,” Tisdale said.

The short-term side effects included fever caused by a drop in white blood cells, inflammation in the mouth, and chest pain.

This is not the first report of gene therapy being used for sickle cell. Last year, French researchers described the case of a teenage boy who was doing well 15 months after receiving gene therapy. Tisdale said that approach was very similar to the one his team used.

Very exciting results

So far, research has focused on people with severe sickle cell.

But ultimately, the hope is to use gene therapy earlier in the course of the disease to prevent complications, said Dr Caterina Minniti, director of the Montefiore Medical Center’s Sickle Cell Center for Adults in New York City.

Minniti, who was not involved in the research, called the early results “very exciting”.

Still, she cautioned that it will be a while before the approach is available for widespread use. With any gene therapy, Minniti noted, there are always questions about the long-term “stability” of the inserted gene, and whether it could have any unintended effects in the body.

But overall, she said, the outlook for sickle cell patients is improving. A new drug for preventing complications, called Endari (L-glutamine), received US approval last year, and others are on the way.

“The development of therapies has dramatically accelerated in recent years,” Minniti said.

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As we’re heading into the festive season, you’re probably getting the house ready for the celebrations, writing up shopping lists and planning for guests – but bear in mind that some of them might suffer from allergies.

The human body is a wonderful thing, but sometimes our immune system goes into overdrive when something is not “quite right”. From seasonal respiratory allergies to food allergies, here are some triggers that you might need to look out for:

1. The Christmas tree (and all those decorations)

Sorry for being the Grinch, but if your artificial Christmas tree with baubles and tinsel is packed away for months, it can gather dust and mould – all triggers for respiratory allergies and asthma.

Do you prefer to use a real pine tree? While the tree itself might not necessarily cause allergies, its fragrance, pollen spores and possible mould might. According a study conducted in 2007, a Christmas tree in a room could increase the number of mould spores sixfold. A small sample of Christmas trees carried about 53 different strains of mould. According to Dr Kelly Rose from Allergy Partners, California, USA, this can cause all types of symptoms from an itchy, runny nose to coughing and sneezing.

What to do: Store artificial trees and decorations in a cool, dry place during the year and give them a good dusting outside before starting the decorating. If you’re using a real tree, shake and rinse it before bringing it into the house.

2. All the different types of food

Where do we start? With so many different traditions, the culinary assortment is vast and there can be loads to choose from. Unfortunately, for those who suffer from food allergies, things may end up not being so festive as they never know exactly what they’re ingesting, especially at someone else’s house. Nuts, eggs, cow’s milk, shellfish, wheat, soy and sesame allergies are among the most common food allergies.

What to do: Do your research and don’t be afraid to ask your hosts what will be on the menu – you are not being fussy, you’re simply trying to avoid a potentially serious medical situation. Read the labels carefully when buying ready-made food and treats such as Christmas cake, mince pies, glazed ham and sweets as many of these contain common allergens. Make sure that your treatment is up to date and that you carry the necessary medicine or an epi-pen with you when visiting family or travelling.

If it’s your turn to host, be mindful of family members with food allergies. Ask beforehand and make sure that there are options for them. Also make sure their foods are not accidentally contaminated by any allergens.

3. Your aunt’s cat (or dog)

Pet allergies are caused by their dander that can release dust and tiny bits of allergens into the air. These allergies are common and can cause watery, itchy eyes, coughing and sneezing.

According a previous Health24 article, cat allergies are more common than dog allergies. The reason for this is a specific protein found in cat hair. Cat allergies are triggered by the overreaction of the immune system to a protein called FEL d 1.

And while your own pets might not trigger your allergies, someone else’s cat or dog could do so. 

What to do: Asking a relative to remove their pet from the scene might not be appreciated, so rather take your antihistamines well before the visit and wash your hands frequently, especially after handling any animals.

Hosts, be mindful of those with pet allergies by ensuring that rugs, carpets, couches and linen are cleaned properly. Make the guest room a pet-free zone if you have someone with allergies spending the night.

4. Gifts

Never look a gift horse in the mouth but be careful of what you put in your mouth or on your skin if you don’t know the ingredients. From cosmetics and bath products, edible treats, soft toys and novelty items, the numbers of allergens are endless. Even wrapping paper or adhesive can cause an adverse reaction on the skin.

What to do: If you have a specific allergy and you receive a gift that might cause a flare-up (e.g. a scented candle, a bath product or chocolate-coated almonds), accept it politely but never use or eat anything without first checking the ingredients.

When you are buying gifts and you know someone has a skin allergy or hay fever, refrain from buying them cosmetics or fragranced products.

5. The sun (and everything that goes with it)

The festive season in the Southern Hemisphere is associated with long summer days around the pool or on the beach. But summer fun can turn into an uncomfortable nightmare if you have an allergic reaction to the sun – a very real condition. According to the Cleveland Clinic, a sensitivity to sunlight (photosensitivity) can cause your immune system to react and cause an allergic reaction, often with symptoms such as an itchy, painful rash or even hives. Other factors such as sunscreen or chlorinated water can also cause a skin reaction.

What to do: Stay out of direct sunlight if you are prone to photosensitivity. If you are taking any form of antibiotic, check whether this can make you sensitive to the sun. Stick to a brand of sunscreen that you are familiar with and won’t cause an allergic skin reaction.

^{Image credits: iStock}

Marelize Wilke

Richard Lovett is a 30-year-old Capetonian who took on an eight-week health challenge so that he could get fitter and find his self-confidence. And he knocked it out the park. We caught up with him to find out how he pulled it off. Was it his determination and competitive drive, or was it the Iron Man tattoo?

Read more: 9 reasons to pick up the December issue

What made you lead a healthier life?

“I’ve always enjoyed playing sport, hiking, running and being fit in general. However, when my life got busy and complicated, that healthy lifestyle took a backseat. Along with a poor diet (sweets and junk food), I started neglecting my body. Running and training was slowly being replaced by unwanted weight gain,” says Lovett.

“I got to a point where I was grossed out by my reflection. And seeing photos on social media where I’m topless (and clearly shouldn’t have been) didn’t help with my confidence. I felt embarrassed and ashamed.

“I had chubby cheeks and love handles… Me? Love handles? No sir, something had to be done. I stumbled upon a health challenge on SleekGeek – it was an eight-week transformation challenge. And it was exactly what I needed.”

What kept you motivated?

“I’m a naturally competitive person and decided to use this challenge as a tool to change my lifestyle and mindset for the better. Whenever I felt like skipping gym or quitting halfway through the session – I reminded myself that I would be the only one to blame for not completing the challenge.”

Read more: Mighty workout tips from Avengers: Infinity War star Chris Hemsworth

How did your daily routine change throughout the process?

“This was a lifestyle change. There is no quick fix, tablet or special crash diet. Consistency is what really produces results. Eight weeks is not a long time at all, but I promise you, with the correct balance between a healthy diet and good, regular exercise, extraordinary results are possible.

Preparation is key as well – I didn’t have time on my hands to cook every night when I got back from gym. So meal prep on Sundays was a winning move.”

Read more: The beginner’s guide to mastering food prep

What was your workout plan and diet for the 8 weeks?

“I followed a training programme called Jim Stoppani’s Shortcut To Size. It is a programme designed to increase muscle mass in the shortest time. The routine comprised of training four days a week to attack each muscle group. Unfortunately I injured my anterior tibialis in the second week.

“Initially, I was pretty devastated because I thought I wouldn’t be able to train further – but I didn’t give up. I excluded leg training from the four-day cycle, and then trained each muscle group twice a week with one rest day. In the sixth week I slowly started cardio again to introduce a bit of cardio to my routine.

“I followed a ketogenic diet for the duration of the challenge. I worked off a 21-day keto meal plan. The meal plan offered daily meals with under 20g net carbs. As much as eating bacon until you are blue in the face is fantastic, you’ll learn that a keto diet is more than that.

“I recommend doing lots of research. You really need to know what your body requires according to age, weight, goal weight, etc… and adjust your diet accordingly. The body is an amazing specimen and all you need to do is listen to it.”

Your go-to workout/exercise?

“Due to my injury, I was not able to train legs or run, but that helped me improve my upper body, especially biceps, which used to be my worst session but is now my favourite.”

Read more: Take this quiz to help you find your perfect Men’s Health workout plan tailored to you!

What advice can you give to other wanting the same transformation?

Set yourself goals you think you cannot achieve, and then work until you knock them out the park.

Showing up is 90% of the battle won.

Be prepared and put a plan in place. Not planning at all is planning for failure.

^{This article was originally published on www.mh.co.za}

^{Image credit: Supplied}

Thaaqib Daniels

PHE is urging more pregnant women and over-65s to get the flu jab after a fall in uptake.

Whether you squat or snatch, press or curl, the kettlebell and barbell are the big hitters of resistance training. MH performed some weighty statistical reps to find out which workout tool is the champ.

First to enter the ring is… the kettlebell

100 – The number of calories you stand to burn with just five minutes of kettlebell swings, says the American Council on Exercise.

Perform kettlebell circuits three times a week, and you’ll pump up your VO2 max by 6% in just under a month, according to the NSCA’s TSAC Report.

The kettlebell burns fat fast, improves endurance and will fit in well in a fitness class.

“Kettlebells are best for swinging to develop your posterior chain. As these are your body’s biggest muscles, you’ll also torch calories.” – PT Rob Blair, The Commando Temple

Sticking points: Poor form potential, extremely tiring.

Master move: The Turkish Get-Up. Though it’s a fairly complex move, once grasped, the get-up provides total-body strength and conditioning.

Read more: 9 reasons to pick up the December issue

And in this corner… the barbell

456kg – The world squat record in kilograms, set by American powerlifter Ray Williams.

14% – The increase in lower-body strength you can earn with barbell squats – one more reason not to skip leg day.

Barbells can help you bulk up easily, reach impressive personal bests and get you a ticket to the Olympics.

Sticking points: Tough on body joints, not much cardio and there’s always a line of other gym dudes waiting for the barbell.

Master move: Deadlift. If it’s bragging rights you’re after, this is the ultimate show of strength. Did someone say double your bodyweight?

Read more: The best weight-lifting advice for men over 40

The MH verdict

Barbell wins! There’s no denying that the kettlebell will boil away fat, plus it offers alternative movement patterns to quash boredom. But with unlimited weight variations and a focus on multi-joint compound exercises, the barbell guarantees growth and progression.

Read more: “I picked up weight when my rugby career ended – here’s how I shed 20kg”

^{This article was originally published on www.mh.co.za}

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A new approach to preventing gout attacks looks promising for people not already helped by existing treatments.

Researchers are looking at an anti-inflammatory drug called canakinumab (Ilaris) to treat this painful form of arthritis.

Very large effect

Instead of targeting excessively high uric acid levels as existing gout drugs do, the new strategy aims to reduce overall inflammation. The drug goes after a specific inflammatory molecule called interleukin-1.

The result was a 50% drop in gout attack risk, the researchers found.

“This was a very large effect,” said study lead author Dr Daniel Solomon, a rheumatologist with Brigham and Women’s Hospital in Boston.

He acknowledged it was “very surprising” that the drug packed an equally protective punch whether patients had normal uric acid levels or very high levels.

But Ilaris is unlikely to be the preventive drug of choice any time soon, said Solomon.

For one, it has not yet received approval for gout treatment in the United States. And most patients already achieve risk reduction with standard uric acid-lowering treatments, such as allopurinol (brand names Zyloprim, Aloprim).

What’s more, decades-old allopurinol is a cheap daily pill.

Inflammatory arthritis

“Canakinumab is very expensive,” said Solomon. Its main role to date is as a last-ditch treatment for rare, so-called “orphan” diseases. At its current price, he said, “it is not a viable option for most patients with gout”.

Also, it must be injected every three months by a caregiver.

Still, Solomon said Ilaris may have a clinical role for patients who don’t respond to or tolerate standard medications.

Prior research had shown that interleukin-1B inhibitors can shorten gout attacks, but it wasn’t known if they could prevent them, the study authors said.

The new research was funded by Novartis, the maker of Ilaris. The results were published online in Annals of Internal Medicine.

Gout is the most common form of inflammatory arthritis. When a chemical called uric acid builds up in the body, it triggers the formation of tiny jagged crystals that cause severe joint paint, most often in the foot, particularly the big toe. Gout’s prevalence has increased considerably in recent decades.

Heart disease and gout often overlap, the researchers noted. To explore whether Ilaris has potential as a preventive measure, investigators conducted a secondary analysis of the so-called Canakinumab Anti-Inflammatory Thrombosis Outcomes Study (CANTOS). This enlisted more than 10 000 heart attack patients to see if Ilaris might help reduce future cardiovascular complications among high-risk individuals.

High cost

The researchers found that patients treated with four injections of Ilaris a year faced half the risk for a gout attack, compared with those given a dummy (placebo) treatment, regardless of uric acid levels.

“We have no strong reason to believe that [Ilaris] would be less effective in patients without known heart disease,” said Solomon.

Howard Feinberg, a professor of rheumatology at Touro University in Vallejo, California, agreed.

Based on the current and prior research, “we can assume that this drug will work for most patients”, including those without a history of heart disease, he said.

Feinberg said he “would not recommend its use for someone who did well on older medications” because of its high cost and the need to give it as in injection.

“The type of patient who would benefit the most is someone who was allergic or could not take standard therapy,” Feinberg said, mentioning patients with kidney disease. “This treatment is also ideal for someone whose gout could not be controlled on allopurinol or other older therapies.”

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Extreme dieting is leading to cases of Relative Energy Deficiency in Sport among men and women.

Almost 9,000 fax machines are currently used by the NHS in England – but that is set to change.

Have you ever told a friend they should break up their relationship because they were so clearly miserable, but now they’re married to their partner and neither of them speak to you? The truth is, you can’t be told when it’s time to end your relationship; it’s a personal decision you have to make on your own.

So when it’s your turn to consider whether or not it’s time to end your current situation, that choice has to come from you. But how do you know if it’s time?

Read more: These 5 adventurous activities will improve your relationship

“The decision to end the relationship or not depends on what we are expecting,” says Lawrence Siegel, clinical psychologist. “What have we been getting from this relationship in terms of what we want, what we can tolerate, and what is a deal breaker? The simplest level is, are we getting what we want? If the answer is no or not really, it’s all downhill from there.”

Here are some tell-tale signs that it might be time to break up with your partner.

1. Does your partner annoy you?

Of course. When you spend a significant amount of time with someone, he or she is bound to become annoying. But we’re talking much more than loud chewing or leaving socks on the floor. If the things that your partner does in their day-to-day life – in their fundamental existence – annoy you to the point where you can’t look past it endearingly, that’s something to pay attention to.

“I think we get to a point where we have to ask whether or not we are willing to tolerate the little things,” says Siegel. “If every little thing becomes annoying, we have to go back to the basic question: What are we in this for?”

2. How much of your relationship is affected by resentment?

Every couple fights. Or, at least, the healthy ones do. It’s important to fight. But if you’re finding your arguments are fuelled by resentment – for example, if past problems creep up into every discussion and the issues are impossible to move past – that is a signal to a larger problem.

Read more: 3 toxic behaviours that could ruin your relationships

“If you start thinking about things you aren’t doing in your own life, or wish you could be doing if not for this relationship, that’s when resentment starts to creep in,” Siegel adds. If feelings of security and trust start to feel threatened, that is a big red flag.”

3. Would you rather do things by yourself?

Alone time is one thing. That’s something we all need, and are entitled to. But if you start wishing that you were having all of your adventures without your partner, that’s not the best sign. At the end of the day, a relationship is a choice. You choose to be with the person you’re in a relationship with. And if you’d rather not choose them anymore, you have to start thinking about why.

4. What is your outlook on the future?

When you take a step back and evaluate the bigger picture, do you think of your future with that person? And if so, does it fill you with dread or delight?

“All of these bring us back to the question of, ‘Is this really what I want? Do I feel better? Am I a more positive person with this person?’” Siegel says.

Read more: 9 signs you’re in a toxic relationship and need to get out ASAP

5. Do you still want to try?

Just because you answered “yes” to any or all of these, it doesn’t necessarily mean that it’s time to call it quits. The question then becomes: Do you want to still keep trying? Every relationship ebbs and flows. There are going to be rough patches; that’s part of sharing a life with another human. But if, at the end of the day, you being without this person makes you even sadder than being with them at the moment, that is worth noting. There are still ways to sort it out.

“Is this an endpoint or a crossroad?” Siegel asks. “At that point, somebody has to be the adult. Someone has to call a timeout, and both agree that there is something going on.” From there, you need to have a discussion about how much effort and energy each partner is willing to put into repairing the relationship.

“The crisis of ‘do we move forward or do we end it’ can be the best opportunity to really talk about all of the issues we haven’t talked about before,” says Siegel.

The takeaway

If you can see your relationship thriving down the road, then you have a direction to move in. But if not, sometimes the best thing for a relationship is an ending.

“Sometimes things cannot be worked out,” Siegel explains.

The hardest thing to accept is that sometimes it just can’t be fixed – but staying and holding on will ultimately be worse for you both. Letting go and allowing each other to find what truly makes you happy will set you free.

^{This article was originally published onwww.menshealth.com}

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Meagan Drillinger

Looking for the best fat-burning workouts? Here’s how the pros keep their bodies lean. Choose the regime that best suits you and get cracking…

1. Cardio for the win

“Most definitely pure cardio. Sweat, sweat, sweat! Boxing, cycling, running and keeping that heart rate up.” – Dayna Nienaber, pro motocross racer

Read more: The 12 best foods to burn fat and build lean muscle

2. Gym class

“I can never push myself as hard as an instructor does, so doing a class is at the top of my list for fat burning.” – Michelle Hayward, pro kite surfer

3. Tabata

“My fat-burning workout’s layout will usually be time-based – so either Tabata or rounds for time – so that I’ll have just enough rest in between to lower my heart rate and then go again.” – Hanneke´ Dannhauser, champion obstacle course racer

Read more: Burn tons of fat without doing a million burpees – here’s how

4. High-intensity training

“Besides my javelin programme, I also do boxing, CrossFit and S.W.E.A.T. 1000 and when my programme is not too full, AMPT (a gym in Joburg that focuses on high-intensity interval training). These are very high intensity cardio workouts and I burn a lot of kilojoules during each session.” – Sunette Viljoen, Olympic javelin thrower

^{This article was originally published on www.womenshealthsa.co.za}

^{Image credit: iStock} 

Michelle October