Monogenic disorders are single gene disorders that are inherited according to Mendelian laws. Recent research highlighted in the document shows progress in managing these diseases. A study identified a genetic modifier associated with the progression of Huntington's disease, which could be a target for new treatments. Additionally, a natural antibiotic produced by bacteria from a cystic fibrosis patient was found to be effective against drug-resistant tuberculosis strains, demonstrating how one disease can help address another.
Non tubercular mycobacterial infection following surgery- Dr Keyur BhattDrKeyurBhattMSMRCSEd
Atypical Tuberculosis following surgery or laparoscopy. How to diagnose how to quantify and how to treat.
This is a very important presentation for the discovery and management of atypical tuberculosis infection any surgery.
this can happen after any laparoscopy or any interventional procedures.
Non tubercular mycobacterial infection following surgery- Dr Keyur BhattDrKeyurBhattMSMRCSEd
Atypical Tuberculosis following surgery or laparoscopy. How to diagnose how to quantify and how to treat.
This is a very important presentation for the discovery and management of atypical tuberculosis infection any surgery.
this can happen after any laparoscopy or any interventional procedures.
THE PHARMACOLOGY AND EFFICACY OF ANTIFUNGALS: A LITERATURE REVIEWPARUL UNIVERSITY
Antifungal medications, also known as antimycotic medication
are pharmaceutical fungicide or fungistatic agents used to treat
and prevent mycosis either topically or systematically. A fungal
infection may be superficial, systemic, subcutaneous, or allergic
in nature. Polyenes, echinocandins, antimetabolites, and azoles
have a major role in the antifungal classification. Many topical
antifungals have been available since the antiseptic era. Two
important antibiotics, amphotericin B, to deal with systemic
mycosis, and griseofulvin to supplement attack on
dermatophytes were introduced around 1960. Antifungal
property or flucytosine was noted in 1970, but it could serve
only as a companion drug to amphotericin. The development of
imidazoles in the mid-1970s and triazoles in the 1980s provided
safer and more convenient alternatives to amphotericin B and
griseofulvin. Terbinafine is a novel antifungal. A group of
potent semisynthetic antifungal antibiotics, the echinocandins
are the latest addition. The selection of an appropriate
antifungal agent depends upon the susceptibility of the
organism, and the adverse effects of the drug. Antifungal
pharmacokinetic properties are often the most important
consideration in drug selection because impaired GI tract
function or reduced renal/hepatic drug clearance can profoundly
influence the safety and efficacy of antifungal therapy. Despite
the advances, serious fungal infections remain problematic to
treat with emerging clinical resistance to the available drugs
OPTIMIZATION OF THE TREATMENT OF ROTAVIRUS INFECTION IN CHILDREN BY USING BAC...Alexander Smiyan
ABSTRACT Introduction: Rotavirus infection is a leading place in the structure of acute intestinal infections in children. Rotavirus is excreted in 40-60 % of children hospitalized with gastroenteritis all over the world. Every year, 2 million patients are hospitalized with a severe form of RVI, 25 million need medical help from a doctor and 111 million cases are treated at home. The aim: The purpose of our study was to optimize the treatment of rotavirus infection in children by using Bacillus clausii. Materials and methods: There were 65 children with a rotavirus infection under supervision. The control group was consisted of 28 practically healthy children. The study of humoral immunity was carried out on the basis of determining the serum content of immunoglobulin G, immunoglobulin M, immunoglobulin A, and secretory immunoglobulin A in coprofiltrate. In the process of treatment, the children were divided into two groups: the first received standard treatment, the second group were added to standard treatment with a probiotic drug (Bacillus clausii). Results: In children with RVI with modified treatment main symptoms were reduced compared with the children receiving standard treatment, (p <0.001). In patients with rotavirus infection in the acute period of the disease, a decrease in the concentration of IgA (p < 0.001) and an increase in IgM (p < 0.001) in serum and a decrease in sIgA (p < 0.001) in coprofiltrate was observed in comparison with children in control group. In the period of reconvalescence in children after the traditional treatment, it wasn't revealed normalization of the immunoglobulins. Patients receiving a probiotic drug in addition to traditional treatment it was revealed normalization of the parameters of serum immunoglobulins A, M, G and sIgA in coprofiltrate. Conclusions: So, the probiotic drug containing Bacillus clausii has a positive effect on the humoral immune system in children with rotavirus infection. KEYWORDS: rotavirus, humoral immunity, children, IgA, sIgA, IgM, IgG
Poster prepared by Edna Mutua, Salome Bukachi, Bernard Bett, Benson Estambale and Isaac Nyamongo at a scientific and capacity building forum for the TDR/IDRC research initiative on 'Population health vulnerabilities to vector-borne diseases: Increasing resilience under climate change conditions', Geneva, Switzerland, 14-16 July 2015.
MUST KNOW - HEALTH BENEFITS OF MUSHROOM (CANCER,PROSTATE, CEREBRUM DECREASE,SKIN, HAIT..etc)
This is not an article for cure , but a article for a healthy food that can prevent some of disease and a healthier way of eating.
Learn about Type I Polyglandular Autoimmune Syndrome, an incredibly rare autoimmune disorder often characterized by inefficiencies in the adrenal gland.
3 hours agoTiffany Jones WEEK 1 Main PostCOLLAPSETop of .docxrhetttrevannion
3 hours ago
Tiffany Jones
WEEK 1 Main Post
COLLAPSE
Top of Form
Week 1 Main Post
I chose to focus this post on colon cancer with the factor, genetics. Genetics plays a larger role in cancer diagnoses than a lot of people are aware of. Some genetics testing and syndromes are still not even well known to a lot of practitioners, but hopefully, with more research and education this will become something that is used when testing for certain types of cancers or for being proactive to help prevent it.
The patient scenario I chose is a personal one. My Aunt was diagnosed with colon and gastric cancer. When another of my paternal aunts was diagnosed with colon cancer their oncologist realized that there could be a genetic factor in play. After doing some genetic testing, it was discovered that my aunts had Lynch Syndrome. “Lynch syndrome is an inherited condition that increases your risk of colon cancer, endometrial cancer, and several other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC)” (Mayo Clinic, 2018). People with Lynch syndrome typically have a higher chance of getting colon, gastric, and endometrial cancers, along with several others. Lynch syndrome also causes people to get cancer at much younger ages than someone without it; For instance, colon cancer before the age of 50. If a family has a history of Lynch syndrome there is a 50/50 chance that their children and grandchildren will have it also.
Colon cancer will typically start as small polyps that are not benign (cancerous), but then become cancerous over time. “It is a multifactorial disease process, with etiology encompassing genetic factors, environmental exposures (including diet), and inflammatory conditions of the digestive tract” (Dragovich, T. 2019). There are many signs and symptoms of colon cancer so it can be difficult to diagnose sometimes, especially since most signs and symptoms do not present early on in the disease process. This is why it is so important to get yearly colonoscopies, especially in people who have Lynch Syndrome. Some of the signs and symptoms patients can experience include changes in bowel habits, blood in the stool, abdominal pain that is persistent, not feeling like your bowels are emptying enough when you go, unexplained weight loss, and weakness or fatigue with no known cause (Mayo Clinic, 2019).
A large percentage of colorectal cancer develops from preexisting adenomas. However, this does not mean that every adenoma will become malignant. “The earliest phases of colorectal tumourigenesis initiate in the normal mucosa, with a generalized disorder of cell replication, and with the appearance of clusters of enlarged crypts (aberrant crypts) showing proliferative, biochemical and biomolecular abnormalities” (Leon, P., Gregorio, D., 2001). MicroRNA are small, single-stranded RNA that are noncoding and that can interfere with translation within a cell or cause degradation of the target miRNA. (Y.
THE PHARMACOLOGY AND EFFICACY OF ANTIFUNGALS: A LITERATURE REVIEWPARUL UNIVERSITY
Antifungal medications, also known as antimycotic medication
are pharmaceutical fungicide or fungistatic agents used to treat
and prevent mycosis either topically or systematically. A fungal
infection may be superficial, systemic, subcutaneous, or allergic
in nature. Polyenes, echinocandins, antimetabolites, and azoles
have a major role in the antifungal classification. Many topical
antifungals have been available since the antiseptic era. Two
important antibiotics, amphotericin B, to deal with systemic
mycosis, and griseofulvin to supplement attack on
dermatophytes were introduced around 1960. Antifungal
property or flucytosine was noted in 1970, but it could serve
only as a companion drug to amphotericin. The development of
imidazoles in the mid-1970s and triazoles in the 1980s provided
safer and more convenient alternatives to amphotericin B and
griseofulvin. Terbinafine is a novel antifungal. A group of
potent semisynthetic antifungal antibiotics, the echinocandins
are the latest addition. The selection of an appropriate
antifungal agent depends upon the susceptibility of the
organism, and the adverse effects of the drug. Antifungal
pharmacokinetic properties are often the most important
consideration in drug selection because impaired GI tract
function or reduced renal/hepatic drug clearance can profoundly
influence the safety and efficacy of antifungal therapy. Despite
the advances, serious fungal infections remain problematic to
treat with emerging clinical resistance to the available drugs
OPTIMIZATION OF THE TREATMENT OF ROTAVIRUS INFECTION IN CHILDREN BY USING BAC...Alexander Smiyan
ABSTRACT Introduction: Rotavirus infection is a leading place in the structure of acute intestinal infections in children. Rotavirus is excreted in 40-60 % of children hospitalized with gastroenteritis all over the world. Every year, 2 million patients are hospitalized with a severe form of RVI, 25 million need medical help from a doctor and 111 million cases are treated at home. The aim: The purpose of our study was to optimize the treatment of rotavirus infection in children by using Bacillus clausii. Materials and methods: There were 65 children with a rotavirus infection under supervision. The control group was consisted of 28 practically healthy children. The study of humoral immunity was carried out on the basis of determining the serum content of immunoglobulin G, immunoglobulin M, immunoglobulin A, and secretory immunoglobulin A in coprofiltrate. In the process of treatment, the children were divided into two groups: the first received standard treatment, the second group were added to standard treatment with a probiotic drug (Bacillus clausii). Results: In children with RVI with modified treatment main symptoms were reduced compared with the children receiving standard treatment, (p <0.001). In patients with rotavirus infection in the acute period of the disease, a decrease in the concentration of IgA (p < 0.001) and an increase in IgM (p < 0.001) in serum and a decrease in sIgA (p < 0.001) in coprofiltrate was observed in comparison with children in control group. In the period of reconvalescence in children after the traditional treatment, it wasn't revealed normalization of the immunoglobulins. Patients receiving a probiotic drug in addition to traditional treatment it was revealed normalization of the parameters of serum immunoglobulins A, M, G and sIgA in coprofiltrate. Conclusions: So, the probiotic drug containing Bacillus clausii has a positive effect on the humoral immune system in children with rotavirus infection. KEYWORDS: rotavirus, humoral immunity, children, IgA, sIgA, IgM, IgG
Poster prepared by Edna Mutua, Salome Bukachi, Bernard Bett, Benson Estambale and Isaac Nyamongo at a scientific and capacity building forum for the TDR/IDRC research initiative on 'Population health vulnerabilities to vector-borne diseases: Increasing resilience under climate change conditions', Geneva, Switzerland, 14-16 July 2015.
MUST KNOW - HEALTH BENEFITS OF MUSHROOM (CANCER,PROSTATE, CEREBRUM DECREASE,SKIN, HAIT..etc)
This is not an article for cure , but a article for a healthy food that can prevent some of disease and a healthier way of eating.
Learn about Type I Polyglandular Autoimmune Syndrome, an incredibly rare autoimmune disorder often characterized by inefficiencies in the adrenal gland.
3 hours agoTiffany Jones WEEK 1 Main PostCOLLAPSETop of .docxrhetttrevannion
3 hours ago
Tiffany Jones
WEEK 1 Main Post
COLLAPSE
Top of Form
Week 1 Main Post
I chose to focus this post on colon cancer with the factor, genetics. Genetics plays a larger role in cancer diagnoses than a lot of people are aware of. Some genetics testing and syndromes are still not even well known to a lot of practitioners, but hopefully, with more research and education this will become something that is used when testing for certain types of cancers or for being proactive to help prevent it.
The patient scenario I chose is a personal one. My Aunt was diagnosed with colon and gastric cancer. When another of my paternal aunts was diagnosed with colon cancer their oncologist realized that there could be a genetic factor in play. After doing some genetic testing, it was discovered that my aunts had Lynch Syndrome. “Lynch syndrome is an inherited condition that increases your risk of colon cancer, endometrial cancer, and several other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC)” (Mayo Clinic, 2018). People with Lynch syndrome typically have a higher chance of getting colon, gastric, and endometrial cancers, along with several others. Lynch syndrome also causes people to get cancer at much younger ages than someone without it; For instance, colon cancer before the age of 50. If a family has a history of Lynch syndrome there is a 50/50 chance that their children and grandchildren will have it also.
Colon cancer will typically start as small polyps that are not benign (cancerous), but then become cancerous over time. “It is a multifactorial disease process, with etiology encompassing genetic factors, environmental exposures (including diet), and inflammatory conditions of the digestive tract” (Dragovich, T. 2019). There are many signs and symptoms of colon cancer so it can be difficult to diagnose sometimes, especially since most signs and symptoms do not present early on in the disease process. This is why it is so important to get yearly colonoscopies, especially in people who have Lynch Syndrome. Some of the signs and symptoms patients can experience include changes in bowel habits, blood in the stool, abdominal pain that is persistent, not feeling like your bowels are emptying enough when you go, unexplained weight loss, and weakness or fatigue with no known cause (Mayo Clinic, 2019).
A large percentage of colorectal cancer develops from preexisting adenomas. However, this does not mean that every adenoma will become malignant. “The earliest phases of colorectal tumourigenesis initiate in the normal mucosa, with a generalized disorder of cell replication, and with the appearance of clusters of enlarged crypts (aberrant crypts) showing proliferative, biochemical and biomolecular abnormalities” (Leon, P., Gregorio, D., 2001). MicroRNA are small, single-stranded RNA that are noncoding and that can interfere with translation within a cell or cause degradation of the target miRNA. (Y.
OUTBREAK INVESTIGATION 1
OUTBREAK INVESTIGATION 2
Outbreak Investigation
Introduction
Epidemiology deals with the study of the determinants and distribution of disability or disease in the population groups (Szklo & Nieto, 2014). Epidemiology is one of the core areas in public health study and is essential for the evaluation of the efficacy of the new therapeutic and preventive modalities as well in the new organizational health care delivery patterns. I have for a long time developed a lot of interest in the area towards learning more on finding the causes of diseases and health outcomes in populations. Epidemiology views the individuals collectively, and the community is considered to be patient. The area of public health study is systematic, scientific, and data-driven in analyzing the pattern or frequency of the distributions and the risk factors or causes of specific diseases in the neighborhood, city, school, country, and global levels. Epidemiology handles various areas including environmental exposures, infectious diseases, injuries, non-infectious diseases, natural disasters and terrorism (Szklo & Nieto, 2014). Specifically, this paper explores epidemiology in addressing infectious disease, food-borne illness in the community. Also, the paper examines outbreak investigations as an intervention towards addressing the foodborne illness in the society. Further, an evaluation of the intervention and the expected results are discussed to examine or analyze the contributions of the intervention.
Foodborne Illness
Foodborne illness is any illness that results from food spoilage of the contaminated food. Food can be contaminated by the pathogenic bacteria, contaminated food, parasites, or viruses, as well as natural or chemical toxins including several species of beans, and poisonous mushrooms. In the United States, food-borne illness is estimated to impact negatively over 76 million people annually (Jones, McMillian, Scallan et al., 2007). This is translated to 5,2000 deaths, and 325,000 hospitalizations. However, the true incidence of food-borne illness is unknown. The majority of food-borne illness and most of the deaths are linked to “unknown agents” following the difficulties encountered in the diagnosis a foodborne disease. An estimated $7 billion is lost regarding productivity and medical expenses and is attributed to the most prevalent but diagnosable foodborne illnesses. Comment by Vetter-Smith, Molly J: Reference needed for this statement Comment by Vetter-Smith, Molly J: References needed for these statements
The under diagnosis in foodborne illnesses is further contributed by the majority who has the symptoms and signs of the disease but totally fail to seek medical attention. This circumstance coupled with the global and national distribution of foo.
From Plato’s Cave to the COVID-19 Pandemic: Confinement, Social Distancing, ...Université de Montréal
From Plato’s Cave to the COVID-19 Pandemic:
Confinement, Social Distancing, and Biopolitics
Abstract
This essay by a physician-philosopher compares the COVID-19 pandemic to Plato’s allegory of the cave, where prisoners see only shadows cast on the walls of their cave and know them as their only reality. Raised there since childhood, they experience sensory deprivation, impacting their brains and their minds, limiting their perceptions and their understanding. The philosopher who escapes from the cave into the harsh light of day and returns to tell the truth is met by fellow prisoners with derision. The pandemic’s preventive measures of confinement and social distancing may induce sensory deprivation and trauma, creating an “experimental childhood” for billions of vulnerable youth. In the political sphere, philosophers like Giorgio Agamben warn that the COVID-19 crisis creates a pretext for emergency measures, at worst a “techno-medical despotism” in a new form of biopolitics, declaring a medical state of exception where the pandemic crisis is the new normal.
Key words: Plato’s cave, COVID-19 pandemic, sensory deprivation, confinement, social distancing, biopolitics
Judy Starts to Cross the Autoimmune AbyssDrBonnie360
Content and Visual Design by Tiffany Simms
Bringing the Lonely Voices of Autoimmune Disease back to Stanford Medicine X 2015, DrBonnie360 describes an autoimmune journey through Judy's Story.
Judy finds hope in patient power, new data sharing and collaboration, and turning data into insights.
The Roman Empire A Historical Colossus.pdfkaushalkr1407
The Roman Empire, a vast and enduring power, stands as one of history's most remarkable civilizations, leaving an indelible imprint on the world. It emerged from the Roman Republic, transitioning into an imperial powerhouse under the leadership of Augustus Caesar in 27 BCE. This transformation marked the beginning of an era defined by unprecedented territorial expansion, architectural marvels, and profound cultural influence.
The empire's roots lie in the city of Rome, founded, according to legend, by Romulus in 753 BCE. Over centuries, Rome evolved from a small settlement to a formidable republic, characterized by a complex political system with elected officials and checks on power. However, internal strife, class conflicts, and military ambitions paved the way for the end of the Republic. Julius Caesar’s dictatorship and subsequent assassination in 44 BCE created a power vacuum, leading to a civil war. Octavian, later Augustus, emerged victorious, heralding the Roman Empire’s birth.
Under Augustus, the empire experienced the Pax Romana, a 200-year period of relative peace and stability. Augustus reformed the military, established efficient administrative systems, and initiated grand construction projects. The empire's borders expanded, encompassing territories from Britain to Egypt and from Spain to the Euphrates. Roman legions, renowned for their discipline and engineering prowess, secured and maintained these vast territories, building roads, fortifications, and cities that facilitated control and integration.
The Roman Empire’s society was hierarchical, with a rigid class system. At the top were the patricians, wealthy elites who held significant political power. Below them were the plebeians, free citizens with limited political influence, and the vast numbers of slaves who formed the backbone of the economy. The family unit was central, governed by the paterfamilias, the male head who held absolute authority.
Culturally, the Romans were eclectic, absorbing and adapting elements from the civilizations they encountered, particularly the Greeks. Roman art, literature, and philosophy reflected this synthesis, creating a rich cultural tapestry. Latin, the Roman language, became the lingua franca of the Western world, influencing numerous modern languages.
Roman architecture and engineering achievements were monumental. They perfected the arch, vault, and dome, constructing enduring structures like the Colosseum, Pantheon, and aqueducts. These engineering marvels not only showcased Roman ingenuity but also served practical purposes, from public entertainment to water supply.
Welcome to TechSoup New Member Orientation and Q&A (May 2024).pdfTechSoup
In this webinar you will learn how your organization can access TechSoup's wide variety of product discount and donation programs. From hardware to software, we'll give you a tour of the tools available to help your nonprofit with productivity, collaboration, financial management, donor tracking, security, and more.
2024.06.01 Introducing a competency framework for languag learning materials ...Sandy Millin
http://sandymillin.wordpress.com/iateflwebinar2024
Published classroom materials form the basis of syllabuses, drive teacher professional development, and have a potentially huge influence on learners, teachers and education systems. All teachers also create their own materials, whether a few sentences on a blackboard, a highly-structured fully-realised online course, or anything in between. Despite this, the knowledge and skills needed to create effective language learning materials are rarely part of teacher training, and are mostly learnt by trial and error.
Knowledge and skills frameworks, generally called competency frameworks, for ELT teachers, trainers and managers have existed for a few years now. However, until I created one for my MA dissertation, there wasn’t one drawing together what we need to know and do to be able to effectively produce language learning materials.
This webinar will introduce you to my framework, highlighting the key competencies I identified from my research. It will also show how anybody involved in language teaching (any language, not just English!), teacher training, managing schools or developing language learning materials can benefit from using the framework.
Read| The latest issue of The Challenger is here! We are thrilled to announce that our school paper has qualified for the NATIONAL SCHOOLS PRESS CONFERENCE (NSPC) 2024. Thank you for your unwavering support and trust. Dive into the stories that made us stand out!
We all have good and bad thoughts from time to time and situation to situation. We are bombarded daily with spiraling thoughts(both negative and positive) creating all-consuming feel , making us difficult to manage with associated suffering. Good thoughts are like our Mob Signal (Positive thought) amidst noise(negative thought) in the atmosphere. Negative thoughts like noise outweigh positive thoughts. These thoughts often create unwanted confusion, trouble, stress and frustration in our mind as well as chaos in our physical world. Negative thoughts are also known as “distorted thinking”.
2. MEDIC AL
U T I L I T Y
MONOGENIC
DISORDERS
Manuela Patiño
Marín
Molecular Biology
UPB
2017-02
BI BLI OGRAPHY
•Davina J Hensman Moss et al.
University College London.
"Genetic modifier for
Huntington's disease
progression identified."
ScienceDaily. ScienceDaily, 20
June 2017. from
www.sciencedaily.com/releases/
• American Chemical Society.
"Bacteria from cystic fibrosis
patient could help thwart
antibiotic-resistant TB."
ScienceDaily. ScienceDaily, 14
June 2017. From;
<www.sciencedaily.com/releases
/2017/06/170614112916.htm>.2
017/01/170110121046.htm
• Martinez Sanchez, Lina
Maria. Biología Molecular.
8 ed. Medellín: UPB.
Monogenic diseases are
those caused by alterations in
a single gene. They are
transmitted according to
Mendelian laws and
although they affect 1-2% of
the population, they
represent a public health
problem that must be
addressed. In the news, they
show us how medicine is
advancing to try to manage
hereditary diseases, such as
Huntington, and how these
diseases could
help us
manage others,
such as cystic
fibrosis for
TB management..
3. GENETIC MODIFIER
FOR HUNTINGTON'S
DISEASE
PROGRESSION
IDENTIFIED
A team led by UCL and Cardiff
University researchers has
developed a novel measure of
disease progression for
Huntington's disease, which
enabled them to identify a genetic
modifier associated with how
rapidly the disease progresses.
PERSONAL OPINION
It’s a great advantage to
know the progression of
a disease, as this helps to
créate an effective
treatment and improve the
quality of life of
thousands of people who
suffer from in besides
preventing the onset of it.
BACTERIA FROM
CYSTIC FIBROSIS
PATIENT COULD
HELP THWART
ANTIBIOTIC-
RESISTANT TB
The number of drug-resistant
tuberculosis (TB) cases is rising
globally. But a newly discovered
natural antibiotic -- produced by
bacteria from the lung infection
in a cystic fibrosis patient --
could help fight these infections.
Lab testing reported in the
Journal of the American
Chemical Society shows that the
compound is active against
multi-drug resistant strains.
PERSONAL OPINION
It´s a breakthrough that
medicine can takes
something bad like cystic
fibrosis and use it in favor
Of humans doing drugs that
avoid bacterial resistance and
serve as treatments to multiples bacteria
I N T R O D U C T I O N
Monogenic hereditary diseases
are those caused by alterations in
the DNA sequence of a single
gene. These diseases follow the
rules of Mendel so they have
different inheritance patterns:
Autosomica dominant,
Autosomica recessive, Linked to
dominant sex and linked to
recessive sex. At present, genes
from many monogenic disorders
have been isolated; for example
Huntington's disease, Cystic
fibrosis, Muscular Dystrophies,
Hemophilia, Marfan syndrome,
among others.
4. I NTRODUCTI ON
HUNTINGTON CYSTIC FIBROSIS
Autosomal dominant and
progressive degenerative
CNS disorder.
Gen: IT15
Protein product:
Huntingtin.
Deadly autosomal recessive
disorder. There is an
accumulation of viscous
mucus that accumlates in
the distal airways, intestine,
uterus…
Gen: CFTR
.
I N T R O D U C T I O N
Monogenic hereditary diseases
are those caused by alterations in
the DNA sequence of a single
gene. These diseases follow the
rules of Mendel so they have
different inheritance patterns:
Autosomica dominant,
Autosomica recessive, Linked to
dominant sex and linked to
recessive sex. At present, genes
from many monogenic disorders
have been isolated; for example
Huntington's disease, Cystic
fibrosis, Muscular Dystrophies,
Hemophilia, Marfan syndrome,
among others.
6. Huntington disease (HD) is a fatal neurological disease caused by a
rapidly evolving genetic mutation.
"We've identified a gene that could be a target for treating Huntington's disease.
While there's currently no cure for the disease, we're hopeful that our
finding could be a step towards life-extending treatments”
GENETIC MODIFIER FOR HUNTINGTON'S
DISEASE PROGRESSION IDENTIFIED
7. They studied
high-quality
phenotypic data
that could be
observed in
people with
Huntington's
disease, in
addition, they
searched for
areas of the
genome that were
associated with
the measurement
of disease
progression.
GENETIC MODIFIER FOR
HUNTINGTON'S DISEASE
PROGRESSION IDENTIFIED
And found a
significant result
in their sample of
216 people who
then validated in
a larger sample of
1.773 people from
a separate cohort.
8. The researches identified that a variation in MSH3
encodes an amino acid chande in the gene. MSH3 has
been widely involven in Huntington pathogenesis.
“The strength of our finding implies that the variant we
identify has a very large effect on Huntington, or that the
new measure of progression we develop is a much better
measure” Said Professor Lesley Jone
GENETI C MODI FI ER FOR HUNTI NGTON'S
DI SEASE PROGRESSI ON I DENTI FI ED
9. This study seems to be a
useful tool to try to manage
diseases as complex as
Huntington. Also, i´m very
happy to know that people who
suffer from this disease will
have greater possibilities of
treatment, which will improve
greatly the quality of life and
i think we can reach a point
where we delay both the
appearance of the illness that
people who suffer from it will
have a longe life expectancy.
PERSONAL OPINION
10. BACTERIA FROM CYSTIC FIBROSIS
PATIENT COULD HELP THWART
ANTIBIOTIC-RESISTANT TB
2017,June 14.
American Chemical Society
11. BACTERIA FROM CYSTIC FIBROSIS PATIENT
COULD HELP THWART ANTIBIOTIC-
RESISTANT TB
Since the first disovery of mold penicillin, scientists have continued to
look for natural sources of antibiotics. And as pathogens
develop resistance to previously trustworthy drugs, the search
has acquired a new urgency.
12. BACTERIA FROM CYSTIC
FIBROSIS PATIENT COULD
HELP THWART ANTIBIOTIC -
RESISTANT TB
The researches found
that a species,
Burkholderia
gladioli, which was
isolated from the
sputum of a child
with Cystic Fibrosis,
produces an
antibiotic called
GLADIOLINA.
The compound
belongs to the same
structural class as
ethnagien, another
antibiotic that has
been investigated for
its ability to clog
bacterial cell machine.
13. BACTERIA FROM CYSTIC FIBROSIS PATIENT
COULD HELP THWART ANTIBIOTIC-
RESISTANT TB
The researchers found that GLADIOLIN is
more stable tan Ethnangien, and could
potentially be a better drug candidate.
Laboratoy tests also showed that
GLADIOLIN blocked the growth of four
drug-resistant strains.
14. It seems to me a great
advantage that a disease is used
as a tool to create treatments
that will help thousands of
people in the world, besides, it
seems very useful that they are
in search of new medicines
because at present thank to the
high consumption of antibiotic
indiscriminately, the bacteria
have mutated and become
multiresistant.
PERSONAL OPINION
16. M E D I C A L U T I L I T Y
Monogenic disorders are
problems that often afflict the
Community. It´s very important
to know them and to know what
their inheritance pattern is, so
that we can help to prevent their
appearance, in addition to having
a more adequate control of their
management. I think it would be
very useful if each family is
genetically advised to know what
risks they have.
17. M E D I C A L U T I L I T Y
One of the greatest advantages of
research in this field is that each day
discover more and
more genes and
sequences that have
to do with the
development of
monogenic diseases which helps
their prevention and créate
treatments so specific that don´t
cause other problems because attack
the mutation specifically.
18. M E D I C A L U T I L I T Y
Finally, i find it very interesting
and importan that they are creating
new medicines from diseases that
helps to counteract bacterial
resistance. It is an opportunity for
proper management of many
bacterial diseases such as TB and
that the treatment is truly effective.
Medicine is growing by leaps and
bounds.
19. BI BL I O G R A P H Y
•
•
•
Davina J Hensman Moss et al. University College London.
"Genetic modifier for Huntington's disease progression
identified." ScienceDaily. ScienceDaily, 20 June 2017.
from www.sciencedaily.com/releases/
American Chemical Society. "Bacteria from cystic fibrosis
patient could help thwart antibiotic-resistant TB."
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Medellín: UPB
20. ‘’Boredom is what is left of
the thoughts when the
PASSIONS are removed
from them”
A l a i n