Scientists investigate the role of contractility and microbiota in chronic constipation – News-Medical.Net

August 21, 2020 medical

Chronic constipation (CC) remains a serious medical and social problem because the complexity of diagnosis, the lack of a single approach to treatment, and unsatisfactory treatment results.

The causes of constipation are varied - from the abnormal anatomical structure of the large intestine and its location in the abdominal cavity to impaired neurohumoral regulation of its motility, endocrine pathology, psychogenic factors, poor nutrition, as well as a combination of these factors.

The mechanism of the formation of the constipation syndrome, while remaining largely unclear, is of great interest as an object of research. Understanding the pathophysiological processes in constipation syndrome can be the key to improving the methods of conservative and surgical treatment.

In particular, the Republican Clinical Hospital of Tatarstan has accumulated 20 years of experience in the treatment of refractory constipation.

The paper is a joint effort by Guzel Sitdikova (Chair, Department of Human and Animal Physiology, Kazan Federal University), Dina Yarullina (Associate Professor, Department of Microbiology, Kazan Federal University), Oleg Karpukhin (Professor, Department of Surgical Diseases, Kazan State Medical University), and Republican Clinical Hospital of Tatarstan.

The objective of this particular research was to gain an insight into the role of contractility and microbiota in the etiology of CC.

To this end, the scientists studied spontaneous and evoked contractile activity of descending colon segments from patients that had undergone surgery for refractory forms of CC.

The juxta-mucosal microbiota of these colon samples were characterized with culture-based and 16S rRNA sequencing techniques. In patients with CC, the spontaneous colonic motility remained unchanged compared to the control group without dysfunctions of intestinal motility.

Moreover, contractions induced by potassium chloride and carbachol were increased in both circular and longitudinal colonic muscle strips, thus indicating preservation of contractile apparatus and increased sensitivity to cholinergic nerve stimulation in the constipated intestine.

Based on the previous data, it can be suggested that smooth muscle cells develop a compensatory response to the abnormality in cholinergic stimulation.

In the test group, the gut microbiota composition was assessed as being typically human, with four dominant bacterial phyla, namely Firmicutes, Bacteroidetes, Proteobacteria, and Actinobacteria, as well as usual representation of the most prevalent gut bacterial genera.

Yet, significant inter-individual differences were revealed. The phylogenetic diversity of gut microbiota was not affected by age, sex, or colonic anatomy (dolichocolon or megacolon).

The abundance of butyrate-producing genera Roseburia, Coprococcus, and Faecalibacterium was low, whereas conventional probiotic genera Lactobacillus and Bifidobacteria were not decreased in the gut microbiomes of the constipated patients.

As evidenced by the study, specific microbial biomarkers for constipation state are absent. The results point to a probable role played by the overall gut microbiota at the functional level.

To the authors' knowledge, this is the first comprehensive characterization of CC pathogenesis, finding lack of disruption of motor activity of colonic smooth muscle cells and insufficiency of particular members of gut microbiota usually implicated in CC.

Treatment of patients with any pathology becomes effective if it is etiopathogenetically justified, that is, it is aimed at eliminating the etiological factors of the disease and blocking the mechanisms of the development of the disease.

This pilot study of the mechanisms of the formation of CC syndrome in various anatomical anomalies of the structure and location of the colon not only expands the understanding of this complex process, but is also of clinical interest.

The obtained results can contribute to the choice of the optimal variant of drug stimulation of colon motility during constipation, substantiation of radical approaches to treatment, clarification of indications for the use of probiotics or intestinal microbiota transplantation.

However, for a better understanding of the pathophysiological and microbiological processes in the colon in CC syndrome with subsequent clinical use of the obtained results, additional studies are needed.

Due to the small number of observations, the results of physiological and microbiological studies do not allow generalized conclusions to be drawn about specific processes in the intestine in CC syndrome, but only reflect the specifics of refractory constipation in a group of patients with a mechanical obstacle to the movement of the chyme against the background of an abnormal anatomical structure or location of the intestine.

The results indicate the preservation of the molecular mechanisms of muscle tissue contraction in patients with chronic coprostasis and its increased sensitivity to cholinergic stimulation.

We consider the study of other links in the regulation of motility - the enteric and central nervous systems, Cajal cells, as well as the influence of metabolites of the intestinal microbiota on the contractile activity of smooth muscle cells - as potential directions for further research.

It is also advisable to study the contractile activity of the smooth muscle of the large intestine in different age groups of patients with constipation, with congenital anomalies of the autonomic innervation of the intestine and in patients with decompensation of the motor-evacuation function of the intestine against the background of prolonged use of laxatives.

According to the study, the structure of the microbial community of the large intestine of patients mainly corresponds to the normal microflora of the human intestine.

Individual members of the intestinal microbiota have been identified that are capable of influencing the motor-evacuation function of the intestine due to the produced metabolites, which confirms the presence of a functional relationship between chronic constipation and the composition of the intestinal microbiota.

Nevertheless, according to modern concepts, the development of coprostasis is promoted not by individual taxa, but by the entire microbial ensemble as a whole. More observations are also needed to confirm this assumption.

Source:

Journal reference:

Yarullina, D. R., et al. (2020) Characterization of gut contractility and microbiota in patients with severe chronic constipation. PLOS ONE. doi.org/10.1371/journal.pone.0235985.

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Scientists investigate the role of contractility and microbiota in chronic constipation - News-Medical.Net

Physiology

Asking the Clergy: Why does God allow suffering? – Newsday

August 21, 2020 medical

From biblical plagues to the COVID-19 pandemic, humankind has been beset by serious illness and the suffering that accompanies it. This weeks clergy discuss how believers can face such afflictions with the patience of Job.

Rabbi Mendy Goldberg

Lubavitch of the East End

Any time any innocent person suffers, we are faced with a conundrum: on the one hand, the belief that God is kind and just, and on the other, how does he allow the suffering of innocent people? Some may prefer the easy way out of this moral tension and throw their hands in the air and say:Either God doesn't exist, or the victims were not innocents and they deserved punishment.

I dont have all the answers, but Jewish thinking tells us to look at it from another angle. Its called faith. We dont accept the theology that God is not responsible. For who is responsible for nature if not God? Faith is a most basic component of human living, of our ability to cope with all that happens around us. We can be disappointed with God. Even the most righteous people in the Bible objected to God's decisions.

We must pray and cry out to God and demand an end to such pain. We dont control the circumstances in our lives, but we do have full control over our response to any given challenge. How to respond to your lifes curveballs? Well, thatonly you can answer. With faith in the one above.

The Rev. Jennifer L. Brower

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Minister for Pastoral Care, Unitarian Universalist Congregation at Shelter Rock

The answer to the question depends entirely upon ones beliefs about the nature of the Holy. The tradition in which I serve, Unitarian Universalism product of the 1961 consolidation of the Universalist and the Unitarian traditions a covenantal and noncreedal tradition, has grown increasingly theologically diverse. This diversity allows for many possible, faithful answers to the question.

Each persons unique theology will dictate her/hisunderstanding of Gods involvement in sickness and suffering. In my view, we humans are complex, organic beings subject to expected and surprising natural physiological change through injury, aging and illness. Sickness or a change in physiology is a natural part of being embodied. Like sickness, suffering is not a punishment meted out by God. Suffering is a natural part of life and takes many forms. It is created by many different factors.

Over our lifetimes, we may suffer in mind, body or spirit as a result of circumstance or as a consequence of our choices. I believe the Holy is available to us throughout it all our sickness and suffering, our wellness and the good fortune that often goes unnoticed.

The Rev. Marjorie Nunes

Senior Pastor, Hicksville United Methodist Church

On July 27, my 17-year-old cousin died of kidney cancer. This young man was a very talented football player, an excellent student and a devoted and loving son and brother. He gallantly fought to live. At his funeral his older brother cried, What kind of kid deserved radiation, chemo and pain?

The issue of sickness and suffering is always a difficult one to deal with. Butbelieving in the sovereignty of God, there is no other option than suffering being something God allows and/or causes. Yet, the key is remembering that Gods ways are higher than our ways. This does not mean sickness is always from God or that God always inflicts us with sickness. We live in a world tainted by sin, sickness, disease and death, all of which always are with us. Some sickness is simply a result of the natural course of things in this world.

But one thing is for sure. Sickness and suffering should not cause us to lose faith in God. When people are suffering, it is our responsibility to minister to them, care for them, pray for them and comfort them. Suffering people need our love and encouragement.

DO YOU HAVE QUESTIONS youd like Newsday to ask the clergy? Email them to LILife@newsday.com.

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Asking the Clergy: Why does God allow suffering? - Newsday

Genetics

Genetic Study Reveals New Insights On Transatlantic Trade Of Enslaved People – Here And Now

August 19, 2020 medical

Editor's note:This segment includes mentions of sexual violence.

Until recently, much of the information available about where enslaved people were captured before being brought to the Americas came from shipping logs and databases.

These sources detailed ports of embarkation and numbers of people transported, and new data drawn from genetics corroborates much of what historians already knew.

But the data also reveals some revelations both about the intercolonial trade of enslaved people and some of slavery's most brutal atrocities.

The study, which appears in the American Journal of Human Genetics, drew on genetic data from 50,000 23andMe users who agreed to lend their DNA.

The project was started by Joanna Mountain, a geneticist at 23andMe and former Peace Corps volunteer in Kenya who developed a deep interest in what happened to people who were wrenched from that continent into slavery. Mountain joined forces with population geneticist Steven Micheletti on the study that has been years in the making.

The pair worked closely with historians to compare a database of transatlantic slavery records to the genetic connections between people in Africa and people in the U.S. with African ancestry.

They found that there was a very strong bias toward African women contributing to the present-day gene pool compared to African men, and that the bias varies across different regions of the Americas, Mountain says.

In parts of Central America, enslaved African women were contributing 13 to 17 times more to the current day gene pool than enslaved African men, she says.

In discussing this extreme finding with historians and looking through the historical literature, we found indications that men were far less likely to reproduce, partly because they were at higher risk of dying early if they were having to participate in rice farming or sugar cane farming, which was very risky, she explains.

At the same time, enslaved African women were often being forced to reproduce. In parts of Latin America, there would be initiatives to encourage European men to father children with African women in order to do something that they called dilute the African gene pool, she says.

The rape of enslaved African women who were sometimes forced to have children before arriving in the U.S. as a strategy to manipulate the gene pool made their genes more extreme in certain areas.

This is something that we often think of as the past. And yet the repercussions certainly continue to today in the DNA, she says. It's kind of amazing that we see it so strongly in the genetic evidence.

On the over-represented number of Americans with Nigerian ancestry, which the study found is likely due to the intra-continental slave trade

Stephen Micheletti: We see a lot of U.S.-based African Americans with ancestry from Nigeria and specifically connections to the ethnolinguistic groups, the Yoruba, Esan and Igbo. And why this was so surprising is the transatlantic shipping records indicate that people around Nigeria weren't directly arriving in the U.S. in high numbers. But what we have to realize is that enslaved people were being forced between and within the Americas over centuries. So not all the movement was happening across the Atlantic. It was also happening between all these countries and within all of these countries.

On how few Gambian and Senegalese descendants of enslaved people there are in the U.S.

Micheletti: We merge these two regions and call them Senegambia. And we didn't see a lot of Senegambian representation in the U.S. and again, that's another deviance from our expectation given the shipping records. The working hypothesis is Senegambians were typically Asian and African rice cultivators back in Africa and the Europeans were well aware of this. So it's likely that Senegambians that arrived in the United States ended up on rice plantations because of their expertise. And what we know about rice plantations is that they were some of the most dangerous working conditions for enslaved people. One reason is malaria is a huge problem in these swampy rice fields, and there's also other risks like drowning

On the response from 23andMe volunteers

Joanna Mountain: We definitely got at quite a bit of response. And it's provoked some debate regarding enslavement and forced migrations. But also people seeing this story in their own lives. One individual said that whenever I'm in Jamaica and New Orleans, I feel a sense of connection. And for that individual, this study felt very real to him. And so that was super exciting for us.

On people discovering the study and making connections between European DNA and their ancestry

Micheletti: One goal of this study was first to produce the data and then look at the historical records that best support those data. And unfortunately, the records that support those data are these horrible atrocities. And with that, we wanted to make readers aware of these atrocities because they've shaped the genetic landscape across the Americas. And we want people to be aware of the number of enslaved people that were impacted.

... I would say [peoples] eyes are opened by this study because a lot of people may have not heard about this history in the past. And I've received some personal messages that people are happy that we're looking into the history and not just providing a genetic study, but more of a collaborative study with historians and not ignoring all of these atrocities because it's part of their past. People have discovered using services like ours that they have European ancestry and now they have better context for why that is.

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Genetic Study Reveals New Insights On Transatlantic Trade Of Enslaved People - Here And Now

Genetics

Seed Genetics Direct Field Days will be held as scheduled – Ohio’s Country Journal and Ohio Ag Net

August 19, 2020 medical

As fall approaches, Seed Genetics Direct will host its annual field days in Ohio and Indiana between August 25 and Sept. 16 (see schedule below). Seed Genetics Direct is an independent seed company headquartered in Jeffersonville, Ohio that serves the Eastern Corn Belt.

Free and open to the all farmers, field days provide the opportunity for visitors to tour corn and soybean plots to see the performance of 2021 genetics and technologies. Seedsmen will also be available to provide detailed information and answer questions.

Weve added seven new corn hybrids and nine soybean varieties to our lineup for the Eastern Corn Belt. Field days are great opportunity to see products, as well stock up on the best deals of the season. Our September discounts include a 15.5% early-pay discount or a 9.5% savings with John Deere zero percent financing, as well as $10 off per unit of traited corn, said Todd Jeffries, SGD vice president. In addition, we offer explosive treatments at a standard price on corn, soybeans and wheat. These treatments protect from Barley Yellow Dwarf, Fusarium, Pythium, Phytophthora, Phomopsis, Rhizoctonia and more! Our corn treatment also includes N-Hibit and Terios Zn+ for vigor and stress tolerance. Guests can learn more about these offerings during our field days.

Seed Genetics also has several practices in place to protect guests from the spread of COVID-19 during field days. To disperse crowds, SGD field days will occur all day between 11 a.m. and 7 p.m. to ensure plot tours are in groups of 10 or less; guests may arrive at any time. Freshly grilled and individually-packaged food will also be served throughout the day by servers in masks and gloves. SGD will provide guests with disposable masks, gloves and hand-sanitizer as needed, as well as follow all Ohio, Indiana, CDC and OSHA mandates.

Seed Genetics Direct field days will occur as scheduled below. To ensure events have not been cancelled, on the day of the event, please call the SGD main office at 740-505-6545 or check SGDs website (seedgeneticsdirect.com), Facebook or Twitter channels (@seedgenetics).

SGD field days scheduleAll SGD field days are from 11 a.m.- 7 p.m. Guest can arrive at any time.

August 25: Chillicothe, Ohio plot on Schooley Station Road (east of Chillicothe on Route 50, south onLancaster Road, east on Schooley Station) (Bob, Brian, and BJ Brown)

August 26: 2741 Weigand Road, Lockbourne, Ohio 43173 (Bill, Bob and Ross Black)

August 31 and Sept. 1: 4712 Prairie Road Northeast, Washington Court House, Ohio 43160

Sept. 4: 7263 North US Hwy 35, Williamsburg, Ind. 47393

Sept. 8: 8608 North Zaring Road, Scottsburg, Ind. 47170 (Wischmeier Farms)

Sept. 11: 8584 State Route 725 West, Camden, Ohio 45311 (Don Jackson)

Sept. 16: 4614 East State Road 244, Shelbyville, Ind. 46176 (Matt Settles)

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Seed Genetics Direct Field Days will be held as scheduled - Ohio's Country Journal and Ohio Ag Net

Genetics

First-Ever Consumer DNA Test to Unlock the Connection Between Genetics and Mental Wellness-Related Behavioral Tendencies – PR Web

August 19, 2020 medical

NEW YORK (PRWEB) August 19, 2020

Living with a mental health challenges can be stressful even during the best of times. Then COVID-19 came along. Quarantine, distancing, not seeing family and loved ones, and economic worries have all added to the struggles of people dealing with mental wellness. On top of that, back-to-school stress is compounding the mental stressors were all dealing with right now. Recently, Amy Edgar, Founder of Childrens Integrated Center for Success and expert in pediatric mental health, teamed with YourUpdateTV to discuss steps we can take to take control of our mental wellness during this uncertain time.

A video accompanying this announcement is available at: https://youtu.be/0WpBE2FWYC0

Parents, many of whom may be dealing with their own mental and emotional struggles, have taken on the burden of worrying about their childs mental health as well. With the back to school season in full swing, stress and anxiety are at an all-time high as families grapple with the reality of additional distance learning, or the potential dangers of returning to the classroom. Its natural for parents to wonder whether the last five months and whatever lies ahead will have a lasting effect on kids mental well-being.

So how can parents take back control of mental wellness in the age of COVID-19?

A first-ever consumer DNA test is helping unlock the connection between genetics and mental wellness. One cheek swab will produce results that will help people better understand how genes affect ones predisposition for stress, focus, substance abuse, sleep, and more.

Organized around Genominds proprietary 7 Core Genetic Mental Health Capabilities, the test analyzes 38 genetic variants and their influence on 29 mental health traits. The result is an interactive report that details 59 possible behavioral predispositions specific to each users genetic profile, along with resources and actionable recommendations shown to improve wellness and quality of life. Genomind Mental Health Map is the only DNA test in the consumer market with a specific focus on mental health and wellness, and is available without prescription. The test should not be used as a diagnostic or risk assessment for mental health diseases and disorders.

For more information, visit MentalHealthMap.com and use discount code MHMFALL5.

About Amy Edgar, APRN, CRNP, FNP-C:Amy Edgar is transforming healthcare and embracing our next generation of humans. Ignited by the experience of raising her now 19-year old daughter, Amy founded the Children's Integrated Center for Success in 2014. Weaving together the threads of mom, entrepreneur, teacher, nurse, primary care provider, and science geek, Amy utilizes systems thinking and integrated care delivery models to run her primary care center focused on children with behavioral health needs. From cutting edge genetics research to nutrition consults, speech and equine therapy, school advocates, and marriage counselors CICS strives to reach every child, every time. In 2017, Amy led CICS in connecting career opportunities for children with autism looking for suitable work to capture their own piece of the American Dream, which was realized in the CICS Foundation. Amy continues to practice and provide patient care while championing CICS's virtual healthcare expansion to reach families across and outside of Pennsylvania.

About Genomind:Genomind is a leading mental health company singularly focused on filling the innovation gap in mental health care through novel, genetics-based tools that bring mental health into the era of personalized medicine. Its flagship product, Genomind Professional PGx, is a pharmacogenetic testing service that helps medical professionals guide patients mental health treatment. The Company recently launched Genomind Mental Health Map a direct-to-consumer test that enables a better understanding of the biological basis of mental health, coupled with actionable guidance to help people improve health and wellness. Supported by a world-class genetics lab, a unique heritage of clinical mental health expertise, and a consultative approach, Genomind is advancing a new paradigm of precision medicine in mental health care. Learn more at http://www.genomind.com.

About YourUpdateTV: YourUpdateTV is a social media video portal for organizations to share their content.

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First-Ever Consumer DNA Test to Unlock the Connection Between Genetics and Mental Wellness-Related Behavioral Tendencies - PR Web

Genetics

New Generation Genetics Bulls Lead the Way Following the Genetic Evaluations in August – Hoard’s Dairyman

August 19, 2020 medical

The information below has been supplied by dairy marketers and other industry organizations. It has not been edited, verified or endorsed by Hoards Dairyman.

Following the release of the August 2020 genetic evaluations, bulls from New Generation Genetics proven and genomic bulls ranked at or near the top for Milk, Components, Type, Udder Composite, Mobility, Fertility, DPR, Productive Life, NM$, PPR, & Profit.

54BS557 BMG Lust GET LUCKY *TM continues to lead the way as the #1 proven bull for milk, fat, and protein. Get lucky is also the #1 Proven bull for PPR at 189. His milk is +2594, +58f and +57p.

54BS558 Hilltop Acres B DAREDEVIL ET *TM is the breeds type leader with daughters impressing on farms and in the show ring. He continues as the #1 proven type bull at +1.0 with an udder composite now at +1.16.

54BS564 Jo-Lane Dario HAMPTON ET *TM dominates in health traits, profit, and fertility. After completing his 1st crop he ranks #4 for productive life at +5.2 with a +1.7 DPR. He is the new #5 proven Net Merit bull at $327 and #5 SCR ranking at +1.5.

54BS561 Hilltop Acres BV JESSE ET *TM is a new graduate at +624 milk, +0.6 type, +0.71 UDC, +0.7 DPR, and positive SCR. He offers an impressive outcross pedigree, phenomenal udders, and great dairy strength.

54BS601 La Rainbow Sweet SALSA ETV *TM Is the #1 G-type bull at +1.1 type and +1425 milk. This Genomic Gem is a LUCKY CARL brother to SILVER, giving him an impressive pedigree to back his historic numbers.

54BS604 La Rainbow Sweet SPARK *NP is a new genomic polled bull at +750 milk, +0.8 type, and +1.18 UDC, earning him #1 genomic polled status in these three categories.

196BS55878 Portmann BS Bays JONMAR *TM is an exciting new offering from Swissgenetics. He is the #8 G-PPR bull at 182 and #5 genomic Net Merit bull at $466. He is also +1158 milk, +43 fat, +40 protein, +0.79 UDC, and +2.1 DPR.

We also offer the CHAMPIONS COLLECTION elite sire lineup including 54BS600 WINRITE, 54BS602 FIRST CHOICE, 54BS539 RICHARD, 54BS581 RASTA, 54BS568 FAST & FURIOUS, and 54BS548 WINNING FORMULA.

New Generation Genetics offers the most comprehensive Brown Swiss Sires portfolio in the U.S. For further information call 920-568-0554, visit our Facebook page http://www.facebook.com/newgenerationgenetics, email info@brownswiss.com or visit http://www.brownswiss.com.

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New Generation Genetics Bulls Lead the Way Following the Genetic Evaluations in August - Hoard's Dairyman

Genetics

How extremely rare genetic condition leaves 11-year-old Amelia needing a wheelchair at any moment – Yorkshire Post

August 19, 2020 medical

LifestyleFamilyAmelia Beaton suffers from a rare genetic condition which means she can be fine one minute and need a wheelchair the next. Catherine Scott reports.

Wednesday, 19th August 2020, 4:45 pm

Eleven-year-old Amelia Beaton suffers from a rare genetic condition which affects just 40 people in the UK.

Eating and drinking is a real difficulty for Amelia, says mum Lisa. Amelia is in a lot of pain and has lots of gastrointestinal problems.

Its known as Little Britain syndrome, as in the TV show. Its like the Andy character. One minute she can be running around, at her own pace, then she is exhausted and in pain.

It doesnt affect Amelias learning ability and its hard as she knows exactly what is going on. More often than not however, Amelia is feisty, cheeky and desperate to get on with things. She is very creative and likes to draw on her iPad. She bounces on her trampoline and loves to sing. She wants to be a singer or an actress. She is popular at school and we keep everything positive. But she has had so much time in hospital.

Amelia, who lives in Knaresborough is the youngest child of Lisa, 45, and husband Martin, 52, an airline pilot. Their older children are Harry, 20, Jack, 17, and George, 13.

During her pregnancy with Amelia, Lisa had excessive amniotic fluid which can be an indicator of a health problem and reduced foetal movements. Nonetheless,

Amelia passed all her newborn health checks. But by the time she was two weeks old, Lisa had started to worry, firstly at her babys high-pitched cry, then struggles breastfeeding and her stiff body position.

I knew something was not right, Lisa recalls. I asked my health visitor and she said after three boys I was letting my girl rule the roost. Around a week later I pointed out again that she was holding her head in a weird position. The health visitor thought it could be a neck problem caused by the position she was in during pregnancy. My GP started a referral to orthopaedics.

Shortly after Lisa was undressing Amelia for a baby clinic check when a different health visitor asked if she could take her to see the GP on duty.

The GP examined Amelia but didnt give anything away. She just said she had some concerns and wanted paediatricians at the local hospital in Jersey, where we were living at the time, to see her urgently. She asked me to go straight there and not go home.

At hospital, doctors took a full medical history and even asked if Martin and I were blood relations. Amelia was then taken for tests and an X-ray. I felt like I had been smacked in the face. As far as I knew we were just waiting for a referral for a neck issue. I remember when the doctors came back to us, I was so scared.

The paediatrician suspected arthrogryposis, a stiffening of joints and muscles. He said we would need to see a specialist in London. He told me there is a form of the condition where children dont live past the age of two and recommended us not to Google it. I did Google because it was impossible not to. I wanted to know as much as I could, to understand, learn and prepare as best I could. I also felt that having already been told there was a form where children dont live long, that was already the worst possible news as far as we were concerned so I wanted to read positive stories, outcomes and experiences.

It was hard seeing images of older children with the condition but like all things, there is a wide. We went home and had a three-week wait before we went to London.

Amelia saw a private orthopaedic consultant at the Portland Hospital in London and started a programme of extensive physiotherapy three times a day as well as therapy three times a week at the Childrens Development Centre.

She was referred to Great Ormond Street Hospital for tests and MRI scans. Amelia was seen by a neurologist, geneticist, physiotherapist, respiratory consultant and dietitian. A muscle test in June 2009 test showed Amelia most likely had congenital myasthenic syndrome.

Congenital myasthenic syndrome (CMS) is a neuromuscular genetic disorder characterised by muscle weakness that worsens with physical exertion. Affected children may experience mobility issues, owing to weakness in the skeletal muscles; problems eating, owing to weakness in the muscles used for chewing and swallowing; and problems controlling facial movement, owing to weakness in the facial muscles and muscles controlling the eyes and eyelids.

Amelia is believed to possibly have an extremely rare variation. In the UK, 40 families are affected by this genetic disorder. CMS is most commonly caused by autosomal recessive inheritance. This means that it has been inherited because both parents carry one faulty gene copy. Less commonly, CMS is passed on by one parent.

I was nave back then. For the first year I thought every time we went back to GOSH we would be told what was wrong with her. No one told us it would be such a long round with genetics so we were unprepared for how long everything took or that we would get negative results or just no fault found. We were back and forth to GOSH over the next few years.

Amelia is now 11 years old. She has muscle weakness, fatigue and difficulty swallowing and eating. She has one-to-one help at school. She needs help with day to day activities such as personal care and cutting up her food. Her upper limbs are very tight, but her lower limbs are hypermobile. She can walk, but tires quickly so when she does, she uses her wheelchair.

Last year we were in hospital for three months. It is hard on all of us. I would love to get a firm diagnosis. It is unlikely to be of use to Amelias treatment, but it would make a big difference to me as parents you want to know you have done the best for your child.

Charitys support for family

The family has been supported by the charity MyAware, which funds residential family weekends.

The weekend provides the opportunity for families to mix, support each other and provides information that is vitally needed with such a rare condition. MyAware us supported by the Jeans for Genes campaign.

Jeans for Genes Day raises money for Genetic Disorders UK, the charity that aims to change the world for children with genetic disorders. Funds raised will go to the vital care and support they need.

Jeans for Genes Day takes place Monday-Sunday September 14 to 20 and invites everyone to wear their jeans to work or school and make a donation. http://www.jeansforgenesday.org.

Editors note: first and foremost - and rarely have I written down these words with more sincerity - I hope this finds you well.

Almost certainly you are here because you value the quality and the integrity of the journalism produced by The Yorkshire Posts journalists - almost all of which live alongside you in Yorkshire, spending the wages they earn with Yorkshire businesses - who last year took this title to the industry watchdogs Most Trusted Newspaper in Britain accolade.

And that is why I must make an urgent request of you: as advertising revenue declines, your support becomes evermore crucial to the maintenance of the journalistic standards expected of The Yorkshire Post. If you can, safely, please buy a paper or take up a subscription. We want to continue to make you proud of Yorkshires National Newspaper but we are going to need your help.

Postal subscription copies can be ordered by calling 0330 4030066 or by emailing subscriptions@jpimedia.co.uk. Vouchers, to be exchanged at retail sales outlets - our newsagents need you, too - can be subscribed to by contacting subscriptions on 0330 1235950 or by visiting http://www.localsubsplus.co.uk where you should select The Yorkshire Post from the list of titles available.

If you want to help right now, download our tablet app from the App / Play Stores. Every contribution you make helps to provide this county with the best regional journalism in the country.

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How extremely rare genetic condition leaves 11-year-old Amelia needing a wheelchair at any moment - Yorkshire Post

Immunology

Immunology Professor Paul Moynagh says hes perplexed by Government decision putting sport behind closed doo – The Irish Sun

August 19, 2020 medical

IMMUNOLOGY Professor Paul Moynagh says he's 'perplexed' by the Government's decision to put sport behind closed doors.

He cannot understand why it's being limited so much when it's been established that outdoor activity is far less risky than indoors.

He told RTE: "I'm probably perplexed actually with some of the decisions.

"I like to see decisions based on an evidence base and it seems like putting sport behind closed doors again and 200 spectators not being able to attend, that doesn't make sense to me.

"We know how this virus is transmitted.

"The risk of it being transmitted outdoors is significantly less than inside."

Taoiseach Micheal Martin this evening announced that all sport would go behind closed doors until September 13 at the earliest.

Acting CMO Ronan Glynn identified the gathering of people before and after matches as being the primary concern rather than during the matches themselves.

Researchers Get First-Ever Look at a Rare but Vital Stem Cell in Humans – Technology Networks

August 19, 2020 medical

Neutrophils are the warriors of the immune system. They are always ready to spring to action to help heal injuries or fight off disease. Unless, that is, something goes wrong in their developmental process.Immature neutrophils arent all warriors they can be dangerous turncoats. High levels of immature neutrophils in the bloodstream can be a tell-tale sign of cancer and may even be a biomarker for COVID-19.

Now scientists at La Jolla Institute for Immunology (LJI) have tracked down the rare stem cells that generate neutrophils in human bone marrow. This research, published in Immunity, gives researchers a potential path for intervening in diseases where neutrophil development goes awry.

We have identified the stem cells that are the early origins of neutrophils, the most abundant blood cell type in humans, says Huy Dinh, Ph.D., a former LJI postdoctoral associate who recently moved to a faculty position at The University of WisconsinMadison. Dinh led the study with LJI Professor Catherine C. Hedrick, Ph.D. Knowing how human neutrophils develop is especially relevant today because immature neutrophils have been found to be elevated in both the blood and lungs of severe COVID-19 patients.

Despite their importance, neutrophils have proven very hard to study. They dont hold up well outside the body, and the stem cells that make them are even harder to investigate because they only live in bone marrow.

In 2018, the Hedrick Lab reported the discovery of a group of progenitor stem cells that give rise to mature neutrophils. These progenitors sole job was to generate neutrophils, yet they appeared to also promote tumor growth. The researchers believed that detecting these progenitors could give doctors a better way to catch early cancer cases. But first, the team needed to know a lot more about neutrophil development.

The new research revealed a progenitor cell type that exists even earlier in human neutrophil development. Dinh, a past SPARK Award recipient, together with Tobias Eggert, Ph.D., a LJI visiting scientist and Melissa Meyer, Ph.D., a LJI postdoc, who served as the co-first authors in the study, spearheaded the effort to use a tool called cytometry by time-of-flight (CyTOF) to distinguish these rare cells from other types of immune progenitor cells. This work also made it possible for the researchers to identify more specific protein markers on this early progenitor cell surface.

The discovery of these protein markers was important because until now, scientists have used only a few of markers to track neutrophils over time. The new study gives scientists specific markers for tracking neutrophil development from day one.

The researchers also found that cases of skin and lung cancers are often accompanied by a flood of immature neutrophils including the early progenitor cells into the bloodstream. These immature neutrophils change as they interact with tumor cells, though the researchers arent sure yet how these changes affect cancer progression.

Dinh likens the stages of neutrophil development to the cars on a train. The early progenitors are like the train engine, keeping everything going smoothly along the track to maturity. Cancer shakes everything up, and immature neutrophils jump off the track before they reach maturity. Its like the train is falling apart, Dinh says.

Neutrophil development has been in the news recently due to the COVID-19 pandemic, as studies have shown immature neutrophils are also more abundant in some patients with COVID-19. Dinh and Hedrick think perhaps the threat of the virus prompts the body to churn out neutrophils too quickly, again forcing immature cells off the track to maturity.

We need to study this phenomenon further to see if these neutrophils can be tied to case prognosis or if they can be a drug target for COVID-19, says Dinh.

The researchers hope to continue their work to discover the exact mechanisms that stop neutrophils from reaching maturity. Knowing the earliest cell that gives rise to neutrophils is really critical for trying to target and control these cells, says Hedrick. But we dont know exactly how to do that yet.

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Researchers Get First-Ever Look at a Rare but Vital Stem Cell in Humans - Technology Networks

Immunology

Global Immunology Drug Market to Witness Heightened Growth During the Period 2017 2025 – Lake Shore Gazette

August 19, 2020 medical

The immune system is an assembly of structures and processes inside the body to protect against possibly damaging foreign bodies and diseases. It identifies various threats like bacteria, viruses, and parasites and distinguishes them from bodys healthy tissues. When the immune system weakness and lose the capability to detect and destroy the abnormal cells or body attacks and damages its tissues lead to diseases like cancer and autoimmune diseases. Immunotherapy is a process which includes the treatment by inducing, enhancing or suppressing an immune system to fight against the diseases.

According to American Autoimmune Related Diseases Association, autoimmune disease affects up to 50 million Americans. Autoimmune diseases are of 80 types out of which most prevalent are rheumatoid arthritis, Systemic Lupus Erythematous (Lupus),Juvenile rheumatoid arthritis,inflammatory bowel arthritis, Psoriatic arthritis and affects different body organs like joints, muscles, skin, red blood cells, blood vessels, connective tissues and endocrine glands. Immunology drug is becoming the choice of several oncologists as they provide long-lasting affect by activating the immune system to identify cancerous cell and kill them through the natural process as well as improve the quality of survival. Some of the cancer treatment vaccines approved by FDA are bacillus Calmette-Gurin (BCG), Sipuleucel-T which propel the growth of the Immunology Drug market.

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Immunology Drug Market: Drivers and Restraints

The increase in the prevalence rate of the different type of cancer and rheumatoid cancer, rising government initiatives, increasing funding from the various government and non-government organization is driving the immunology drug market. Patients with poor prognosis are expected to drive the growth of the immunology drugtrial evidence reveals that after preparing the immune system to fight against cancer immunology, drug effects last for a long time even after the reduction of the tumor. High costs of immunology drug and lack of awareness could be the possible restraints for the immunology drug market. Also, the introduction of generic drugs in some regions and slower pipeline development are the challenges for the immunology drug market.

Immunology Drug Market: Segmentation

Immunology drug market is segmented by drug class and the end users.

To the date most clinically and effective drugs in monoclonal antibodies are Humira (adalimumab) and Remicade (infliximab).

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Immunology Drug Market: Overview

Development of some new drugs with success rate is expected to offer the good opportunity for immunology drug market. Wide-ranging scope of Immuno-oncology agents in different cancer treatments would provide the maximum share to immunology drug market in the forecast period. pharmaceutical companies and R&D are showing increased interest in this field and is expected to offer better potential for immunology drug market. Companies involved in partnership and R&D for efficient technologies are some of the latest trends that have been observed in immunology drug market. Currently, most of the immunology drugs are in clinical trial and are expected to rise the immunology market after clearance or success of these products from clinical trials.

Immunology Drug Market: Region-wise Outlook

North America has the largest share globally in immunology drug market because of the availability of better reimbursement policies, high potential to invest the huge amount of money in the development of immunology drug and the advancement in the technologies. Europe is the second largest region regarding value because of the easy accessibility to the immunology drug, and also the affordability for the cost of treatment is high. Increase in awareness, rising economy, increasing government initiatives and large patient pool in Asia-Pacific regions also demonstrates the higher growth in Immunology Drug Market.

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Immunology Drug Market: Key Market Participants

Some of the major players in Immunology drug market are

The research report presents a comprehensive assessment of the market and contains thoughtful insights, facts, historical data, and statistically supported and industry-validated market data. It also contains projections using a suitable set of assumptions and methodologies. The research report provides analysis and information according to market segments such as geographies, application, and industry.

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Global Immunology Drug Market to Witness Heightened Growth During the Period 2017 2025 - Lake Shore Gazette