Female hormones may decrease risk of kidney failure in women than men

Female hormones may play a role in women's decreased risk of developing kidney failure relative to men, according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology (JASN). The findings may be helpful for future attempts at safeguarding women's and men's kidney health in sex-specific ways.

Sex differences between men and women affect most, if not all, organ systems in the body, but there is a significant gap in knowledge of female physiology aside from organ functions involved in reproduction. Regarding the kidneys, while international registries show that fewer women than men develop kidney failure, the underlying causes are unknown.

To investigate, a team led by Judith Lechner, PhD and Thomas Seppi, PhD (Medical University of Innsbruck, in Austria) examined whether hormone changes due to the female menstrual cycle might affect the health of kidney cells. For this purpose, urinary samples from healthy women of reproductive age were collected daily and analyzed for menstrual cycle-associated changes of different proteins.

Read more: Female hormones may decrease risk of kidney failure in women than men

Source: umm.edu

Esophageal Cancer

Overview

Esophageal cancer starts at the inside lining of the esophagus and spreads outward through the other layers as it grows. The two most common forms of esophageal cancer are named for the type of cells that become malignant:

• Squamous cell carcinoma: Cancer that forms in squamous cells, the thin, flat cells lining the esophagus. This cancer is most often found in the upper and middle part of the esophagus, but can occur anywhere along the esophagus. This is also called epidermoid carcinoma.
• Adenocarcinoma: Cancer that begins in glandular (secretory) cells. Glandular cells in the lining of the esophagus produce and release fluids such as mucus. Adenocarcinomas usually form in the lower part of the esophagus, near the stomach.

The National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) Program estimates that some 16,980 people in the United States will be diagnosed with esophageal cancer and 15,590 will die of the disease in 2015. The average five year survival rate is just 17.9 percent.

Smoking, heavy alcohol consumption, and Barrett esophagus can increase the risk of developing esophageal cancer. Other risk factors include older age, being male, and being African-American.

Read more: Esophageal Cancer

The esophagus and stomach are part of the upper gastrointestinal (digestive) system.

Video link: Esophageal Cancer

Source: aacrfoundation

Islet transplantation, blood sugar and type 1 diabetes

New clinical trial results show that transplantation of pancreatic islets--cell clusters that contain insulin-producing cells--prevents severe, potentially life-threatening drops in blood sugar in people with type 1 diabetes. Researchers found that the treatment was effective for people who experienced episodes of severe hypoglycemia--low blood sugar levels that can lead to seizures, loss of consciousness and death--despite receiving expert care.

The Phase 3 trial was funded by the National Institute of Allergy and Infectious Diseases (NIAID) and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), both part of the National Institutes of Health, and was conducted by the NIH-sponsored Clinical Islet Transplantation (CIT) Consortium. The investigators designed the study in consultation with the U.S. Food and Drug Administration to enable potential future licensure of the manufacture of purified human pancreatic islets. The results appear online today in Diabetes Care.

"The findings suggest that for people who continue to have life-altering severe hypoglycemia despite optimal medical management, islet transplantation offers a potentially lifesaving treatment that in the majority of cases eliminates severe hypoglycemic events while conferring excellent control of blood sugar," said NIAID Director Anthony S. Fauci, M.D.

Read more: Islet transplantation, blood sugar and type 1 diabetes

Transplantation of pancreatic islets--cell clusters that contain insulin-producing cells--prevents severe,
potentially life-threatening drops in blood sugar in people with type 1 diabetes, according to new research

Source: ibreakstock/Fotolia

Obesity, stress and even cellphone use can influence men's ability to conceive

Certain lifestyle factors are linked to higher rates of damage in the genetic material in men’s sperm. This could affect men’s ability to conceive as well as the genes they pass on to their children.

According to researchers, the damage may stem from factors such as obesity, stress and even cellphone use.

Semen analysis usually looks at the numbers and the condition of whole sperm. But the authors of a small study in Poland believe the degree of breakage, or fragmentation, in DNA strands in the sperm might be a better indicator of fertility. DNA carries the cell’s genetic information and hereditary characteristics.

Men with fragmentation have lower odds of conceiving naturally and through such procedures as in vitro fertilization, the scientists write in the International Journal of Impotence Research.

Researchers have noticed before that lifestyle factors can influence the level of sperm DNA fragmentation, said Ricardo P. Bertolla of Sao Paulo Federal University in Brazil, who was not part of the new study.

Read more: Obesity, stress and even cellphone use can influence men's ability to conceive

In a new study, older men and those with higher work stress had more fragmentation of the DNA in
their sperm, which might affect their ability to conceive as well as the genes they pass on to their children.

Source: De Agostini/Getty Images

Biosafety Levels 1, 2, 3 & 4

Biological safety levels are ranked from one to four and are selected based on the agents or organisms on which the research or work is being conducted. Each level up builds on the previous level, adding constraints and barriers.

Biological Agents, Work Practices, Safety Equipment, and Facility Design Specific to Each

A very specialized research laboratory that deals with infectious agents is the biosafety lab. Whether performing research or production activities, when working with infectious materials, organisms or perhaps even laboratory animals, the proper degree of protection is of utmost importance. Protection for laboratory personnel, the environment and the local community must be considered and ensured. The protections required by these types of activities are defined as biosafety levels. Biological safety levels are ranked from one to four and are selected based on the agents or organisms on which the research or work is being conducted. Each level up builds on the previous level, adding constraints and barriers. The Centers for Disease Control and Prevention (CDC) and the National Institutes of Health (NIH) are our main sources for biological safety information for infectious agents. The publication Biosafety in Microbiological and Biomedical Laboratories1 is a principal reference and the resource for much of the information presented in this month’s column. As an introduction, we summarize what the different biosafety levels encompass in terms of the typical biological agents used, safe work practices, specialized safety equipment (primary barriers) and facility design (secondary barriers).

Read more: Biosafety Levels 1, 2, 3 & 4

Video link: Choosing the Best Biosafety Cabinet for Your Application

Source: LabManager

The Brain-to-Brain Loop in Molecular Oncology Laboratory Testing

Various Methods Allow Clinical Laboratories to Maximize Their Efficiency and Usefulness

The delineation of a brain-to-brain loop in clinical laboratory testing first published in 1981 has never been more pertinent. Its subsequent development and current application in clinical molecular oncology in 2016 can make all the difference.

This discussion focuses on the factors that drive the ordering of a lab test and the many components thereof, itemizes pre- and post-analytic causes of diagnostic error, and recommends how a laboratory can help ensure the usefulness of the entire process.

Just as a chain is no stronger than its weakest link, a loop that isn’t closed is (obviously) still open.

Technical and laboratory workers tend naturally to define their work by their technical products and procedures, as well they should. In clinical laboratory testing, that tends to be the step called “analysis.”

The success or failure of an “analysis” may well depend upon the pre- and post-analytic phases at least as much as the analysis itself.

Read more: The Brain-to-Brain Loop in Molecular Oncology Laboratory Testing

Source: DepositPhotos

PCR-Free Novel Genome Sequencing Technology

Will Nanopore Sequencing Make it Obsolete?

Genome sequencers have been tweaking polymerase chain reaction (PCR) amplification to avoid introducing artifacts into sequencing libraries, ranging from modifications in chemistries to the introduction of novel sequencing technologies that could obviate the need for PCR altogether.

PCR-related problems have included uneven amplification, causing overrepresentation of some sequence species and nucleotide misincorporation. In particular, sequencing genomes or genomic regions with extremely biased base composition remains a challenge to the currently available next-generation sequencing (NGS) platforms. These include, for example, the genomes of important pathogenic organisms like Plasmodium falciparum with a high adenine–thymine (AT) content and Mycobacterium tuberculosis with high guanine–cytosine (GC) content.

These genomes have proven difficult for sequencers because the standard library preparation procedures that employ PCR amplification cause uneven read coverage across these regions, leading to problems in genome assembly and variation analyses. 

Read more: PCR-Free Novel Genome Sequencing Technology

Disruptive sequencing based on nanopore technology has the potential to change
completely the way DNA sequencing is done.

Source: beawolf/Fotolia

Sticky beads binding to sperm could offer a novel contraceptive

You ain't going nowhere.

We might have a brand new type of contraceptive on our hands, with scientists inventing sticky beads that can mimic female eggs in the uterus, and act as decoys to lure in sperm, bind to them, and block them from reaching the real thing.

The beads, which have so far only been tested in mice, do their thing thanks to a protein called ZP2, which exists on the zona pellucida – the surface of mammalian eggs. During conception, a sperm cell recognises a molecular fragment of ZP2 and binds to it, enabling the egg to be penetrated and fertilised. By mimicking this process with inert beads coated in the same protein, the sticky beads are effectively a honey pot to trap unwitting sperm.

In the study, a team from the US National Institute of Diabetes and Digestive and Kidney Diseases embedded the sticky beads into the uterus of female mice.

Read more: Sticky beads binding to sperm could offer a novel contraceptive

Source: ScienceAlert

Complete Blood Count in Primary Care

Key points

To provide an overview of the use of the complete blood count in primary care and to provide advice on appropriate follow-up for abnormal results.

Introduction

The complete blood count (CBC) is the most frequently requested blood test in New Zealand. The primary points of interest in the CBC are often whether a patient is anaemic, whether the white count shows evidence of infection and whether the platelets are at a level that may affect haemostasis.

GPs have told us they are reasonably comfortable interpreting CBC results with marked abnormalities, but would like guidance when the results show only subtle abnormalities or when the clinical picture is not clear.

This is a consensus document

This is not a comprehensive document covering all causes of abnormal results; it is a consensus document produced in conjunction with specialist haematologists, providing an overview for some scenarios encountered in primary care.

Background

Haematopoiesis - Cell development

All blood cells are produced within the bone marrow from a small population of stem cells. Less than one in 5000 of the marrow cells is a stem cell. These cells represent a self-renewing population.

Download here: Complete Blood Count in Primary Care

Source: Best Practice Advocacy Centre New Zealand

Virus attacks hospital's medical laboratory department computers

Virus Attacks Hospital’s Medical Laboratory Department Computers, Crippling Workflow and Spreading to Other Departments

Incident highlights need for anatomic pathology and clinical laboratories to protect computer and LIS systems from hackers and malware

Anatomic pathology labs and clinical laboratories that continue to run Microsoft Windows XP on their computer systems now have a real threat to address. In Australia, the computers in a hospital’s medical laboratory were infected in January with a computer virus that shut down the system. To maintain clinical services, the lab staff was forced to use paper-based methods, among other solutions.

The computer virus crippled the pathology department at the Royal Melbourne Hospital and spread throughout the hospital system by targeting computers running Microsoft Windows XP. This is a 14-year-old operating system that Microsoft no longer supports.

Read more: Virus attacks hospital's medical laboratory department computers

Source: WorldCrunch/CloudTimes

Molecular Diagnostics in the Microbiology Laboratory

A look at some of the newest generation ‘load and go’ molecular microbiology analyzers.

For decades, pathogens have been isolated and grown in blood cultures, and detected using microscopes, serology and biochemical techniques. However the last few years have seen a revolution in modern microbiology.

The above tests still form the core work of most routine microbiology labs, but modern analytical techniques such as molecular diagnostics and mass spectrometry are increasingly being incorporated, to varying degrees, in laboratories around the world.

Molecular diagnostics refers to the analysis of nucleic acid from DNA or RNA. In the clinical microbiology lab, scientists are looking for the nucleic acid of microorganisms to confirm or exclude a diagnosis.

The molecular diagnostic work undertaken in the lab can vary from a simple, manual monoplex polymerase chain reaction (PCR) based test to complex automated, multiplex testing (testing for multiple pathogens simultaneously). Some of the newest generation ‘load and go’ molecular analyzers are detailed below.

VERIS Mdx Molecular Diagnostics System

The DxN VERIS combines sample prep and sample analysis steps into a single workflow. The automation of DNA extraction, purification, assay set-up and analysis saves the user time and also prevents user error and the risk of contamination. Using real-time PCR, the system is designed for multiplex assays and uses magnetic particle separation for nucleic acid extraction and purification. The initial test menu includes Cytomegalovirus, Hepatitis B, Hepatitis C and HIV-1 ......

Read more: Molecular Diagnostics in the Microbiology Laboratory

Microbiology has traditionally involved use of blood cultures, however molecular methods are
increasingly employed in modern laboratories;
Beckman Coulter's VERIS Mdx Molecular Diagnostics System

Source: SelectScience

Medical Laboratory Technology

A medical laboratory scientist (MLS), also referred to as a clinical laboratory scientist (Honors) or Medical laboratory technologist (Old name for simple Bsc degree holder) is a laboratory based healthcare professional who performs complex chemical, hematological, immunologic, histopathological, cytopathological, microscopic, and bacteriological diagnostic analyses on body fluids such as blood, urine, sputum, stool, cerebrospinal fluid (CSF), peritoneal fluid, pericardial fluid, and synovial fluid, as well as other specimens.

Medical laboratory scientists work in clinical laboratories at hospitals, physician's offices, reference labs, biotechnology labs and non-clinical industrial labs.

Video Link: Medical Laboratory Technology

Source: SaskatoonHealthReg

Clinical Chemistry Analyser: Vitros 5600

An integrated chemistry analyser - Vitros 5600.

Here is an overview of the Vitros 5600 integrated analyser, a next generation system of Ortho Clinical Diagnostics (a JnJ Company).

Highlights:

• capability to add or remove reagents and consumables, and empty solid and liquid waste while operating;
• sample-centered processing integration approach eliminates need to move sample trays or aliquot samples between chemistry and immunoassay processing modules;
• integrates chemistry, immunoassay, and infectious disease testing, and process them in parallel; 
• integrated MicroTip technology expands menu availability, such as DATs, TDMs, specific proteins, %HbA1c, and user-defined channels;
• MicroSensor technology detects interfering levels of hemolysis, icterus, and turbidity;
• e-Connectivity assists with remote diagnostics, software, and test parameter downloads and updates

Video Link: Vitros 5600

Source: www.orthoclinical.com

How about having your DNA analyzed?

Your DNA is a bit like a crystal ball.

It’s strange to think at our core there might be a strand that dictates how much of our life plays out. It can influence a person’s chance of becoming a supermodel, a sufferer of an acute disease, having a sweet tooth or going grey at the age of 21.

So if someone offered to take a look at your DNA for you, would you take them up on the offer?

Life Letters is an Australian company that will analyse your DNA for $540.

The test has been created to let prospective parents know the risk of passing 148 genetic faults on to their children. These include cystic fibrosis, Tay-Sachs, haemophilia, spinal muscular atrophy and fragile X syndrome. In some instances they may find something in your DNA that could affect your personal health in the long term, but the main focus is what you’ll potentially pass on to your children.

The tests can be purchased online, you don’t need a doctor’s referral and at the end you have a consultation with a genetic counsellor over the phone who makes sure you understand the information and can make educated decisions.

Read more: How about having your DNA analyzed?

Do you want to know the story your DNA tells?

Source: news.com.au

Enabling Rapid Results for Effective Neonatal Care

The epoc® Blood Analysis System provides the fast and accurate results that clinicians need to make accelerated treatment decisions

Anyone working with neonates understands the importance of quick and accurate analysis. These tiny patients have different biomarkers from adults, they also have immature immune systems and provide smaller blood samples that are more difficult to acquire. However, with neonatal testing, timing and result quality is often crucial to the wellbeing of the child.

Case Example: London, UK – Gracie*

Gracie was born prematurely. She immediately had trouble breathing, despite the rapid use of an oxygen breathing mask and was whisked off to the NICU. Glucose, oxygen, and electrolytes were quickly analyzed using the epoc® Blood Analysis System and after seeing the results, the doctor was able to give a prompt diagnosis of Persistent Pulmonary Hypertension. Gracie’s rapid results meant that she could receive the treatment she needed and was soon able to be reunited with her parents. 

epoc® Blood Analysis System

Such quick testing is made possible by the advanced Smartcard Technology and wireless communication offered by the epoc® Blood Analysis System. This point-of-care testing solution is able to analyze a small sample of blood (92μL) and transfer the results wirelessly to the epoc® Host2 Mobile Computer, in approximately 30 seconds. This almost instantaneous delivery of blood gas, oxygen, and electrolyte results from the patient’s bedside, allows the clinician to make the accelerated treatment decisions that are necessary when dealing with acute neonatal situations.

Read more: Enabling Rapid Results for Effective Neonatal Care

Clinicians have to make rapid treatment decisions when dealing with acute neonatal situations

Source: Pixabay

Laboratory Developed Tests (LDTs)

An emerging area of FDA regulation

Laboratory developed tests (LDTs) are being increasingly integrated into the standard practice of diagnosing and predicting the risk of developing a disease, as well as informing decisions regarding the management of disease states like cancer, heart disease and diabetes. LDTs are in vitro diagnostic tests that are designed, manufactured and used within a single laboratory. LDT providers typically create the necessary reagents themselves or purchase reagents from outside vendors and then develop their own proprietary tests for in-house pathology and diagnostic purposes, which facilitate the evaluation of alterations in biomarker levels and/or the presence or absence of genetic susceptibility mutations in patients. These diagnostic tests may aid in clinical decision making pertaining to the prevention, treatment and management of an array of common diseases.

Estimates suggest that tens of thousands of diagnostic tests, including the majority of genetic tests, are currently offered as LDTs.1 The growing reliance on diagnostic tests in guiding critical treatment decisions, combined with the dramatic increase in the number and complexity of LDTs, have created legitimate concerns over the safety and effectiveness of new LDTs. Accordingly, regulatory safeguards that ensure the accuracy of LDTs, particularly high-risk LDTs, are warranted so that patients do not seek unnecessary treatments, delay needed treatments or become exposed to inappropriate therapies.

Read more: Laboratory Developed Tests (LDTs)

Source: PersonalizedMedicine

Transforming our lives with laboratory-grown organs

With people living longer than ever, being able to replace bits of the human body as they wear out has become a new frontier in medicine.

Most babies born in 1900 died before the age of 50; 100 years later life expectancy in the UK now exceeds 80 years, with the number of over-65s expected to double by 2030. This trend is radically changing the age demographics of the population and creating a new set of challenges for engineers. One of the most significant of these is to give people a higher quality of life in their old age.

Significant progress has been made; 300,000 hip replacements are now performed annually worldwide, releasing people from pain, and extending the active period of their lives by 20 years or more. The success of these implants has led scientists to develop a new type of biomaterial that is promising to do for medicine what silicon did for computing.

Historically the function of biomaterials has been to replace diseased or damaged tissues. These biomaterials were selected to be as inert as possible while fulfilling mechanical roles such as teeth filling and hip replacement.

Read more: Transforming our lives with laboratory-grown organs

UCL professor Alex Seifalian holds the trachea that was used in the first synthetic organ transplant

Source: RexShutterstock

Visualizing looks of the future lab

Driven forward by improving technologies and increasing demands, the lab of the future could be markedly different in appearance from the laboratories we work in today. From incorporating 3D printing technology to changing the way that lab data is recorded, we take a closer look at how the next generation of laboratories might evolve. 

The paperless lab concept is not a particularly new one, and many laboratories currently operate without physically recording research and development. Tablet devices allow laboratory teams to record their findings electronically, reducing physical waste and optimising storage organisation.

However, Cloud storage tools have made it simpler for laboratory workers to save their findings in a safe and accessible location. This allows laboratories around the world to help and assist each other in real time. The commercial science lab of the future could incorporate Cloud-connected devices to alert the team of relevant updates and developments. Increased connectivity could help ensure less of the budget and less time is wasted, and more is invested in genuine progress. This momentum towards a paperless research laboratory will require labs to obtain access to trusted servers, data centres and secure network connectivity.

The increasing power and availability of 3D printers have made it possible (not to mention affordable) to create pieces of hardware in the laboratory. Specially designed nails, screws and other important components can be created to fit specific requirements. A number of design companies offer open-source hardware printing services, which enable labs with access to 3D printers to immediately develop their own hardware essentials.

Read more: Visualizing looks of the future lab

Source: shutterstock

A personal interpretation

There is a clear move away from a ‘one size fits all’ approach to medicine and instead a new personalized medicine strategy is becoming more important. Mike Furness explains more about multiomics.

It has been known for a while that people with different genotypes respond to drugs differently. Knowledge gained from studying rare genetic disease has improved understanding of important biological pathways, creating the opportunity for more effective treatments.

For early developmental diseases this has meant that each symptom is investigated in isolation, by a specialist in that area. The patient is sent from one clinician to another. On average a child with a rare genetic disease will been seen by seven physicians over a five year period before a diagnosis may be found. For many of these children there will be no diagnosis but recent advances in genomics will address this problem.

It was against this background that the Discovering Development Disease (DDD) project was established between the NHS and the Wellcome Trust Sanger Institute. It has so far genotyped around 14,000 children with undiagnosed conditions and their parents, providing diagnoses for around 40% of these families, and identifying clusters of affected children that had similar clinical characteristics and shared damaging genetic variants in the same gene. Many of these genetic diseases are so rare that a clinician may see only one or two cases in a career; so being able to compare their patient’s genetics to this growing body of knowledge is a major step forward in helping consultants determine a definitive diagnosis.

Read more: A personal interpretation

Source: shutterstock

A clinical look at the future of pathology

Rapid change has become a defining feature of pathology – but can this change power a new generation of laboratory software to shape the role of the clinical laboratory of the future?

It will come as no surprise to those in the clinical laboratory and pathology field that the market is undergoing rapid change. In recent decades health expectations have risen globally, with all member states of the World Health Organisation committed to working towards universal health coverage worldwide.

The proper scaling of pathology services is key to this growth, as pathology is involved in 70% of all healthcare diagnoses. If the pathology market follows the compound annual growth rate of 6.8% from 2014 to 2020 as predicted in a new study by market analysts Grand View Research1, then the global market for clinical laboratories is expected to reach US$149 billion by 2020.

Along with the rise of universal healthcare, other factors are driving change in the pathology market. These include an aging population and the rising prevalence of chronic conditions like obesity and diabetes. We are also seeing an upsurge of new testing methods to support initiatives such as personalized medicine, also known as genomic medicine, and point-of-care testing.

Read more: A clinical look at the future of pathology

Source: shutterstock

Myasthenia gravis: autoantibody characteristics and their implications for therapy

Myasthenia gravis (MG) is an autoimmune disorder caused by autoantibodies that target the neuromuscular junction, leading to muscle weakness and fatigability. Currently available treatments for the disease include symptomatic pharmacological treatment, immunomodulatory drugs, plasma exchange, thymectomy and supportive therapies. Different autoantibody patterns and clinical manifestations characterize different subgroups of the disease: early-onset MG, late-onset MG, thymoma MG, muscle-specific kinase MG, low-density lipoprotein receptor-related protein 4 MG, seronegative MG, and ocular MG. These subtypes differ in terms of clinical characteristics, disease pathogenesis, prognosis and response to therapies. Patients would, therefore, benefit from treatment that is tailored to their disease subgroup, as well as other possible disease biomarkers, such as antibodies against cytoplasmic muscle proteins. Here, we discuss the different MG subtypes, the sensitivity and specificity of the various antibodies involved in MG for distinguishing between these subtypes, and the value of antibody assays in guiding optimal therapy. An understanding of these elements should be useful in determining how to adapt existing therapies to the requirements of each patient.

Key points

• The characteristic muscle weakness in myasthenia gravis (MG) is caused by antibodies directed against the neuromuscular junction
• MG is divided into subgroups on the basis of specific antibodies, other biomarkers, and clinical characteristics, such as age of onset, presence of thymoma, and involvement of ocular muscles
• The most common antibodies detected in MG are antibodies against acetylcholine receptors (AChRs), muscle-specific kinase (MuSK) and low-density lipoprotein receptor-related protein 4 (LRP4)
• Additional antibodies of interest in MG are directed against agrin, titin, KV1.4, ryanodine receptors, collagen Q, and cortactin
• Therapy should be tailored to the individual patient and guided by MG subgroup, and can include symptomatic drug therapy, immunosuppressive drug therapy, thymectomy and/or supportive therapy
• The aim of treatment should be normal or near-normal function, which in most patients requires long-term immunosuppressive treatment with a drug combination that is individualized for the patient for optimal effectiveness

Introduction

Myasthenia gravis (MG) is an autoimmune disorder caused by antibodies targeting the neuromuscular junction. In MG, these antibodies bind to the postsynaptic muscle end-plate and attack and destroy postsynaptic molecules. This process leads to impaired signal transduction and, consequently, muscle weakness and fatigability — the hallmark symptoms of MG. The weakness can be focal or generalized, and usually affects ocular, bulbar and proximal extremity muscles. Respiratory muscle weakness develops only rarely, but can be life-threatening. Weakness is typically symmetrical, except in affected external eye muscles, in which the weakness is usually asymmetrical.

Read more: Myasthenia gravis: autoantibody characteristics and their implications for therapy

Neuromuscular junction in myasthenia gravis (MG)

Source: NatureReviewsNeurolog

Seeking novel drug targets for Autism

Genetic discoveries have invigorated autism research and raised the possibility of finding drug targets based on autism’s underlying pathophysiology, rather than merely treating symptoms.

An experimental group of drugs works wonders in a mouse-model of fragile X syndrome, the most common single-gene cause of autism. The drugs, which calm overactive metabotropic glutamate receptors (mGluRs) in the brain, restore social sniffing behaviour to normal levels, boost learning and memory, and reduce seizures related to the syndrome. Yet despite being the most promising new strategy for treating autism, these drugs are floundering once they reach human subjects.

The obscurity of the causes of autism means that doctors have little to offer the one in 100 people affected worldwide. Intensive behavioural therapies help some, but current medicines are limited to two drugs, risperidone and aripiprazole, used to treat aggression and irritability.

Read more: Seeking novel drug targets for Autism

An electroencephalogram measures brain connectivity, which, when combined with other measures,
may help delineate people with autism into subgroups with their own distinct biology

Source: SciencePhotoLibrary

Pineal Gland Detox: Spiritual, Mental and Physical Well-being

A tiny gland in the center of the brain named the pineal may seem insignificant, but researchers have found it to be vital for physical, mental and, many believe, spiritual health. Through poor diet, exposure to toxins, stress and modern lifestyle choices, the pineal gland becomes hardened, calcified and shuts down. To awaken this gland from its slumber, detoxification is necessary using diet and herbs, sunlight and pure water.

An important pea-sized gland

Pinecone shaped, the size of a pea and resting in the center of the brain, the pineal gland is small but powerful. It secretes melatonin, which regulates sleep/wake cycles, and serotonin, a neurotransmitter that fosters happy and balanced states of mind. Not only crucial for a good night’s rest, melatonin also slows aging and is a potent antioxidant. It helps to protect against electromagnetic pollution as well. Moreover, individuals have reported heightened feelings of empathy while supplementing with melatonin — leading to more harmonious interpersonal relationships.

Scientists suspect that N, N-dimethyltryptamine (DMT) is also produced by the pineal gland. This is the substance that gives shamanic botanicals like Psychotria viridis its hallucinatory kick. Dr. Rick Strassman, author of DMT, The Spirit Molecule, believes that the pineal gland produces DMT during mystical experiences as well as at birth and death. DMT is also associated with lucid dreaming,peak experiences, creativity and the ability to visualize.

Read more: Pineal Gland Detox: Spiritual, Mental and Physical Well-being

Source: WakeupWorld

Recent Progress in Genome Editing

Researchers develop a CRISPR-based technique that efficiently corrects point mutations without cleaving DNA.

Most genetic diseases in humans are caused by point mutations—single base errors in the DNA sequence. However, current genome-editing methods cannot efficiently correct these mutations in cells, and often cause random nucleotide insertions or deletions (indels) as a byproduct. Now, researchers at Harvard University have modified CRISPR/Cas9 technology to get around these problems, creating a new “base editor,” described today (April 20) in Nature, which permanently and efficiently converts cytosine (C) to uracil (U) bases with low error in human and mouse cell lines.

“There are a lot of genetic diseases where you would want, in essence, to swap bases in and out,” said Jacob Corn, scientific director of the Innovative Genomics Initiative at the University of California, Berkeley, who was not involved in the research. “Trying to get this to work is one of the big challenges in the field, and I think this is a really exciting approach.”

Read more: Recent Progress in Genome Editing

Illustration of DNA ligase, one of the cell proteins involved in repairing double-strand breaks in
DNAWIKIMEDIA; WASHINGTON UNIVERSITY SCHOOL OF MEDICINE IN ST. LOUIS

Source: wikimedia

Latest progress in diagnosis and treatment of Sarcomas

What are sarcomas?

Sarcomas are rare tumours of connective tissue, and as a result they can affect any part of the body. These are tumours of fat, nerves, bone, tendons, muscle and skin. They account for about 1% of all adult cancers and approximately 15% of pediatric tumours. In addition to the wide distribution of potential primary sites and the rarity, these are also very heterogeneous tumours with over 80 different histological subtypes.

These 3 factors make sarcomas extremely challenging to treat. Consequently, it is very important that sarcoma patients are managed by an experienced multi-disciplinary team, including surgeons, pathologists, radiologists, oncologists, specialist nurses, physiotherapists and pharmacists.

Diagnosis

In order to make the diagnosis a biopsy is required to confirm the presence of a sarcoma and the specific subtype. Because these tumours are so rare and heterogeneous it is essential that an experienced pathologist reviews the biopsy sample. Initial diagnostic radiology tests can include a CT and MRI scan depending on the location and type of sarcoma.

Treatment

The mainstay of treatment of localized sarcomas includes complete surgical removal with or without radiation. It is important that an experienced surgeon performs surgery as improperly performed surgery can have an impact on outcome.

Read more: Latest progress in diagnosis and treatment of Sarcomas

A sarcoma is a cancer. Sarcoma - malignant tumors made of cancellous bone, cartilage,

fat, muscle, vascular, and tissues.

Source: Designua/Shutterstock

Loneliness, Isolation Enhance CHD and Stroke Risk

YORK, UK — Although past research has shown a link between impaired social relationships and premature mortality, a new meta-analysis suggests there may also be a significant association with increased risk for coronary heart disease (CHD) and stroke.

The review of 23 papers and 181,006 total patients showed a 29% increased risk for incident CHD for those who had poor social connections, shown through loneliness and social isolation measurements, compared with those with better connections. The lonely and isolated patients also had a 32% increased risk for stroke.

The investigators, led by Dr Nicole K Valtorta (University of York, UK), note that loneliness often contributes to impaired coping methods, isolation affects self-efficacy, and both have been associated with decreased physical activity and increased smoking.

They add that future studies are needed to assess whether targeting these social characteristics "can help to prevent two of the leading causes of death and disability in high-income countries." But for now, "health practitioners have an important role to play in acknowledging the importance of social relations to their patients."

Read more: Loneliness, Isolation Enhance CHD and Stroke Risk

Source: trinesty

A Clinical Review on Vitamin D in Schizophrenia

Vitamin D (vitD) is known for its essential role in calcium homeostasis and bone health. VitD is made endogenously in the skin from UVB radiation from sunlight. VitD is now considered as a potent neurosteroid hormone, critical to brain development and normal brain function, and is known for its anti-inflammatory property affecting various aspects of human health. VitD ligand-receptor, a receptor that mediates much of vitD's biological actions, has been found throughout the body including the central nervous system. VitD deficiency is common in patients with severe mental illness such as schizophrenia. Schizophrenia is a debilitating chronic mental illness characterised by positive symptoms, such as hallucinations and delusions, and negative symptoms including flat affect and lack of motivation. Several environmental risk factors for schizophrenia, such as season of birth, latitude and migration, have been linked to vitD deficiency. Recent studies have suggested a potential role of vitD in the development of schizophrenia. For example, neonatal vitD status is associated with the risk of developing schizophrenia in later life obesity, insulin resistance, diabetes, hyperlipidaemia and cardiovascular disease, which are commonly seen in patients with schizophrenia. It has been well established that vitD deficiency is related to these metabolic problems. The biological mechanism is most likely related to vitD's action on the regulation of inflammatory and immunological processes, consequently affecting the manifestation of clinical symptoms and treatment response of schizophrenia. Potential benefits of vitD supplementation to improve schizophrenia symptoms as well as physical health in patients with schizophrenia should be further explored in future studies.

Introduction

Vitamin D (vitD), the 'sunshine' vitamin, is widely known for its essential role in calcium absorption and bone health. VitD is created in mammals after the epidermis comes into contact with UVB light. UVB radiation catalyses the conversion of 7-dehydrocholesterol to previtamin D3 in the skin, which is then quickly converted into vitamin D3 (cholecalciferol) by the body. 25-hydroxyvitamin D [25(OH)D], the main circulating form of vitD, is used by clinicians to measure vitD levels in the body. VitD is also obtained through dietary sources. Fatty fish, fungus and eggs naturally contain high levels of vitD. In many countries, cereal, milk and other everyday foods are fortified with vitD. VitD is also readily available as a dietary pill. However, since most individuals lack the necessary amount of exposure to UVB light and do not consume enough dietary vitD, vitD deficiency has become a global pandemic. While vitD has long been associated with bone health and related diseases, research in the past decade has uncovered its widespread effects on other aspects of the human body. Studies have identified links between vitD and a multitude of conditions including various cancers, autoimmune diseases, cardiovascular diseases, infectious diseases and mental disorders.

Studies have unveiled the presence of vitD, vitD receptors (VDR) and related enzymes (CYP 27B1, CYP 24A1) in various regions of the brain, leading researchers to establish vitD as a neuroactive/neurosteroid hormone critical to brain development and normal brain function. Furthermore, VitD's possible role in depression has led researchers to explore its potential benefits in other mental illnesses.

Schizophrenia is a severe and debilitating mental illness characterized by chronic positive (hallucinations, delusions) and negative symptoms (lack of motivation, speech issues).

Read more: A Clinical Review on Vitamin D in Schizophrenia

Source: naturalhealth365/sbxsupplements