Global Medical Updates

 WHAT IS SANGER SEQUENCING? Sanger sequencing is a method that yields information about the identity and order of the four nucleotide bases in a segment of DNA. Also known also as the “chain-termination method”, it was developed in 1977 by Frederick Sanger and colleagues, and is still considered the gold standard of sequencing technology today since it provides a high degree of accuracy, long-read capabilities, and the flexibility to support a diverse range of applications in many research areas In the mid-1970s, Sanger wasn’t alone in the race to sequence DNA; almost in parallel, two American scientists, Maxam and Gilbert, developed a technique in which DNA is chemically treated to break the chain at specific bases. Following electrophoresis of the cleaved DNA, the relative lengths of the fragments—and thus the positions of specific nucleotides—can be determined and the sequence inferred. This is considered the birth of first-generation sequencing. However, the advent of Sanger’s chai

  Researchers in Madrid recently wrapped up the largest-yet genomic study of rare neuroendocrine tumors, known as pheochromocytomas and paragangliomas (PPGLs), which identified a seemingly perfect panel of metastatic disease markers as well as a group of patients who could potentially benefit from immunotherapy. The objective here is a better means to predict, at the time of diagnosis of the primary tumor, whether patients will be immediately affected by cancer spread, according to Bruna Calsina, a researcher at the Spanish National Cancer Research Center (CNIO).  Surgical removal of the primary tumor is standard practice, with physicians relying on clinical characteristics of the tumor and patient symptoms in the absence of reliable molecular markers of metastatic potential, she says. The central problem is that PPGLs are exceedingly rare. Samples from more than 100 patients with metastatic disease were analyzed in the latest study, published in  Nature Communications , out of a pool

  DEPRESSION Depression, that is major depressive disorder (MDD), is a calamity for individuals and society. If we have not experienced it ourselves, we all know someone who has been struck by this disease. Twenty percent of women and 15 per cent of men suffer at least one episode in their lifetime. In the USA, the lifetime prevalence in the general population is estimated at 16.2 per cent. MDD is characterized by two or more weeks of depressed mood or diminished interest, associated with symptoms such as disturbed sleep, decrease in appetite and libido, psychomotor changes, reduced concentration, excessive guilt and suicidal thoughts or attempts. It is insidious and often recurrent. Although depressive episodes can be treated well with antidepressant medication, structured forms of psychotherapy or a combination of these, the rate of recurrence is high, with each episode raising the probability of a new one by 16 per cent. MDD is the second leading cause of disability worldwide, in th

  WHAT IS CRISPR? “CRISPR” (pronounced “crisper”) stands for Clustered Regularly Interspaced Short Palindromic Repeats, which are the hallmark of a bacterial defense system that forms the basis for CRISPR-Cas9 genome editing technology. In the field of genome engineering, the term “CRISPR” or “CRISPR-Cas9” is often used loosely to refer to the various CRISPR-Cas9 and -CPF1, (and other) systems that can be programmed to target specific stretches of genetic code and to edit DNA at precise locations, as well as for other purposes, such as for new diagnostic tools. With these systems, researchers can permanently modify genes in living cells and organisms and, in the future, may make it possible to correct mutations at precise locations in the human genome in order to treat genetic causes of disease. Other systems are now available, such as CRISPR-Cas13, that target RNA provide alternate avenues for use, and with unique characteristics that have been leveraged for sensitive diagnostic tools

 On March 21st, 2023, a research team from the Nagoya University Graduate School of Medicine,in Japan, discovered three gut bacteria types that may lead to predicting and treating dementia with Lewy bodies, that is, Collinsela, Ruminococcus torque s, and Bifidobacterium. WHAT ARE LEWY BODIES? Lewy body dementia (LBD) is  a disease associated with abnormal deposits of a protein called alpha-synuclein in the brain . These deposits, called Lewy bodies, affect chemicals in the brain whose changes, in turn, can lead to problems with thinking, movement, behavior, and mood. LBD affects more than 1 million individuals in the United States. People typically show symptoms at age 50 or older, although sometimes younger people have LBD. LBD appears to affect slightly more men than women. A common form of dementia, DLB is characterized by significant cognitive decline, impaired movement, confusion, autonomic dysfunctions, and visual hallucinations. The disease is primarily attributed to the formati

WHAT IS SEPSIS?   Sepsis occurs when chemicals released in the bloodstream to fight an infection trigger inflammation throughout the body. This can cause a cascade of changes that damage multiple organ systems, leading them to fail, sometimes even resulting in death. Symptoms include fever, difficulty breathing, low blood pressure, fast heart rate, and mental confusion. Treatment includes antibiotics and intravenous fluids. SYMPTOMS Symptoms of sepsis may include: Change in mental status. Fast, shallow breathing. Sweating for no clear reason. Feeling lightheaded. Shivering. Symptoms specific to the type of infection, such as painful urination from a urinary tract infection or worsening cough from pneumonia. Symptoms of sepsis are not specific. They can vary from person to person, and sepsis may appear differently in children than in adults. CAUSES Any type of infection can lead to sepsis. This includes bacterial, viral, or fungal infections. Those that more commonly cause sepsis includ