Many of us are born with deep blue eyes, but color changes tend to occur within 2 weeks after birth. Therefore, they are sometimes attributed to “eternal youth.”
A team of scientists traced blue eyes to a single genetic mutation that occurred between 6,000-10,000 years ago in the OCA2 gene, which determines eye, hair, and skin color; this mutation reduced the production of brown melanin in the eyes, leading them to appear blue rather than brown as originally seen in all humans; now all blue-eyed individuals can trace the same gene change back to this single ancient mutation.
Shayla's project on Alzheimer's Diseasepsy101online
Alzheimer's disease is a progressive brain disorder that destroys memory and thinking skills. It starts with mild memory loss and worsens over time. The film Still Alice shows the progression of the main character Alice's early-onset Alzheimer's through its stages - early stage symptoms include memory lapses; middle stage brings dementia symptoms and mood changes; late stage leaves her unable to communicate and needing full care. The disease is caused by buildup of tau protein that damages brain cells, leading to tissue shrinkage and enlarged ventricles. It typically lasts 8-10 years from diagnosis but can range up to 20 years.
The document summarizes Alzheimer's disease. It discusses how AD involves shrinkage of brain tissue and deposits of tau proteins. Symptoms include changes in behavior and problems with memory. While aging is a risk factor, other factors may also play a role. Family caregivers take on a significant responsibility as the disease progresses. Managing AD care is challenging and often requires caregivers to sacrifice their jobs and free time.
Eye color is determined by two factors - the pigmentation of the iris and the scattering of light in the iris stroma. It is influenced by multiple genes, with the two main genes being OCA2 and HERC2 on chromosome 15. While eye color can potentially be changed by melanin production in melanocytes, most changes occur within the first few years of life as the child's melanocyte cells produce more pigment.
Students of high school inheritance often want to know more about how humans inherit eye color. This presentation goes into depth beyond what high school students typically need to know.
High School Blues Evan and Alexia had been happily married for seven.pdfeyezoneamritsar
High School Blues Evan and Alexia had been happily married for seven years and had a
delightful ve-year-old son named Ryan. One day, while going through his old high school
biology textbook, Evan stumbled on some troubling information. In the section on the genetics of
eye color, he read that two blue-eyed parents cannot produce a brown-eyed child. is was
disturbing to him because both he and Alexia had blue eyes, but Ryan had brown eyes. He and
Alexia were very much in love and Evan didn’t believe his wife had been unfaithful. Puzzled, he
questioned his wife, who con rmed she had been faithful to him. Evan had known Alexia long
enough to recognize when she was lying and detected nothing but honesty in her response. Part
II Their curiosity further piqued, Alexia and Evan contacted Dr. Rick Stu at the University of
Queensland, a leading expert on eye color. It used to be thought that eye colour was what we call
a simple Mendelian recessive trait--in other words, brown eye colour was dominant over blue, so
a person with two brown versions of the gene or a brown and a blue would have brown eyes, and
only two blues with no brown could produce blue eyes. But the model of eye colour inheritance
using a single gene is insufficient to explain the range of eye colours that appear in humans. We
believe instead that there se two major genes one that controls for brown or blue, and one that
controls for green or bazel and others that modify this trait. The mechanism that determines
whether an eye is brown or blue is like switching on a light, whereas an eye becoming green or
hazel is more like someone unscrewing the light bulb and putting in a different one, said Dr.
Sturm (Sturm, quoted fr Eyes Have it on Multiple Gene Quest nd) To answer Alexia and Evan\'s
question, he added \"So contrary to what used to be thought, it is possible for two blue-eyed
parents to have a brown-eyed child, although this is not common. (Sturm, quoted from \"Eyes
Have ir on Multiple Gene Question. n.d.) Hearing these words, Evan sighed in relief. Even
though he trusted his wife, it was reassuring to bear one of the world\'s leading experts on the
matter say that Ryan could be their son. Dr. Sturm went on to explain that, contrary to what is
taught in high school grnetics classes, there are many genes involved in the determination of eye
color. Two of them are most important it determining eye ooloE The first gene, called OCA2 (or
bo2or EYCL30, is on chromosome 15. Although the exact function of the OCA2 protein in the
cell is not known, it seems to be involved in the production of melanin COCA2 20oo).OCA2
exis allelic or The brown (B allele stimulates the production of high levels of melanin. The blue
allele (b does not produce the OCA2 Protein, leading to the loss of melanin production. The
brown allele is over the blue allele. The mutation dat produces the blue allele isa single point
mutation (from T to C) in the intron of a gene upstream from OCA2 called HERO2 (Eiberget al.
Color blindness, also known as color deficiency, occurs when someone has trouble distinguishing between certain colors, most commonly reds and greens. It is caused by mutations in genes responsible for the three types of cone cells in the retina that detect color. The most common types are red-green color blindness, which affects males more than females, and blue-yellow color blindness, which affects males and females equally. Color blindness can be inherited through X-linked recessive or autosomal dominant patterns or developed due to age, illness, chemicals, or eye trauma. It is detected using Ishihara color plate tests and in some cases treated with color filters.
This document provides information about various eye diseases from the National Eye Institute website. It begins with an overview of the anatomy of the eye and lists many common eye diseases. Separate articles then provide more detailed information about cataract, retinal detachment, and corneal disease. For each disease, it discusses symptoms, causes, risk factors and additional resources for more information available on the National Eye Institute website.
A team of scientists traced blue eyes to a single genetic mutation that occurred between 6,000-10,000 years ago in the OCA2 gene, which determines eye, hair, and skin color; this mutation reduced the production of brown melanin in the eyes, leading them to appear blue rather than brown as originally seen in all humans; now all blue-eyed individuals can trace the same gene change back to this single ancient mutation.
Shayla's project on Alzheimer's Diseasepsy101online
Alzheimer's disease is a progressive brain disorder that destroys memory and thinking skills. It starts with mild memory loss and worsens over time. The film Still Alice shows the progression of the main character Alice's early-onset Alzheimer's through its stages - early stage symptoms include memory lapses; middle stage brings dementia symptoms and mood changes; late stage leaves her unable to communicate and needing full care. The disease is caused by buildup of tau protein that damages brain cells, leading to tissue shrinkage and enlarged ventricles. It typically lasts 8-10 years from diagnosis but can range up to 20 years.
The document summarizes Alzheimer's disease. It discusses how AD involves shrinkage of brain tissue and deposits of tau proteins. Symptoms include changes in behavior and problems with memory. While aging is a risk factor, other factors may also play a role. Family caregivers take on a significant responsibility as the disease progresses. Managing AD care is challenging and often requires caregivers to sacrifice their jobs and free time.
Eye color is determined by two factors - the pigmentation of the iris and the scattering of light in the iris stroma. It is influenced by multiple genes, with the two main genes being OCA2 and HERC2 on chromosome 15. While eye color can potentially be changed by melanin production in melanocytes, most changes occur within the first few years of life as the child's melanocyte cells produce more pigment.
Students of high school inheritance often want to know more about how humans inherit eye color. This presentation goes into depth beyond what high school students typically need to know.
High School Blues Evan and Alexia had been happily married for seven.pdfeyezoneamritsar
High School Blues Evan and Alexia had been happily married for seven years and had a
delightful ve-year-old son named Ryan. One day, while going through his old high school
biology textbook, Evan stumbled on some troubling information. In the section on the genetics of
eye color, he read that two blue-eyed parents cannot produce a brown-eyed child. is was
disturbing to him because both he and Alexia had blue eyes, but Ryan had brown eyes. He and
Alexia were very much in love and Evan didn’t believe his wife had been unfaithful. Puzzled, he
questioned his wife, who con rmed she had been faithful to him. Evan had known Alexia long
enough to recognize when she was lying and detected nothing but honesty in her response. Part
II Their curiosity further piqued, Alexia and Evan contacted Dr. Rick Stu at the University of
Queensland, a leading expert on eye color. It used to be thought that eye colour was what we call
a simple Mendelian recessive trait--in other words, brown eye colour was dominant over blue, so
a person with two brown versions of the gene or a brown and a blue would have brown eyes, and
only two blues with no brown could produce blue eyes. But the model of eye colour inheritance
using a single gene is insufficient to explain the range of eye colours that appear in humans. We
believe instead that there se two major genes one that controls for brown or blue, and one that
controls for green or bazel and others that modify this trait. The mechanism that determines
whether an eye is brown or blue is like switching on a light, whereas an eye becoming green or
hazel is more like someone unscrewing the light bulb and putting in a different one, said Dr.
Sturm (Sturm, quoted fr Eyes Have it on Multiple Gene Quest nd) To answer Alexia and Evan\'s
question, he added \"So contrary to what used to be thought, it is possible for two blue-eyed
parents to have a brown-eyed child, although this is not common. (Sturm, quoted from \"Eyes
Have ir on Multiple Gene Question. n.d.) Hearing these words, Evan sighed in relief. Even
though he trusted his wife, it was reassuring to bear one of the world\'s leading experts on the
matter say that Ryan could be their son. Dr. Sturm went on to explain that, contrary to what is
taught in high school grnetics classes, there are many genes involved in the determination of eye
color. Two of them are most important it determining eye ooloE The first gene, called OCA2 (or
bo2or EYCL30, is on chromosome 15. Although the exact function of the OCA2 protein in the
cell is not known, it seems to be involved in the production of melanin COCA2 20oo).OCA2
exis allelic or The brown (B allele stimulates the production of high levels of melanin. The blue
allele (b does not produce the OCA2 Protein, leading to the loss of melanin production. The
brown allele is over the blue allele. The mutation dat produces the blue allele isa single point
mutation (from T to C) in the intron of a gene upstream from OCA2 called HERO2 (Eiberget al.
Color blindness, also known as color deficiency, occurs when someone has trouble distinguishing between certain colors, most commonly reds and greens. It is caused by mutations in genes responsible for the three types of cone cells in the retina that detect color. The most common types are red-green color blindness, which affects males more than females, and blue-yellow color blindness, which affects males and females equally. Color blindness can be inherited through X-linked recessive or autosomal dominant patterns or developed due to age, illness, chemicals, or eye trauma. It is detected using Ishihara color plate tests and in some cases treated with color filters.
This document provides information about various eye diseases from the National Eye Institute website. It begins with an overview of the anatomy of the eye and lists many common eye diseases. Separate articles then provide more detailed information about cataract, retinal detachment, and corneal disease. For each disease, it discusses symptoms, causes, risk factors and additional resources for more information available on the National Eye Institute website.
This document provides information about various eye diseases from the National Eye Institute website. It begins with an overview of the anatomy of the eye and lists many common eye diseases. Separate articles then provide more detailed information about cataract, retinal detachment, and corneal disease. For each disease, it discusses symptoms, causes, risk factors and additional resources for more information available on the National Eye Institute website.
This document discusses color blindness, including what it is, its causes, types, diagnosis, and treatment. Color blindness is the inability to see certain colors or distinguish between colors. It is most often a genetic condition caused by abnormalities in the cones of the eye. There are several types depending on which cones are affected, such as red-green color blindness. It is typically diagnosed using tests like the Ishihara Plate test. While there is no cure, tools like color filters can help some with color vision deficiencies see color more clearly. The document also outlines inheritance patterns and challenges people with color blindness may face.
Myopia, commonly known as nearsightedness, refers to a spectrum of eye disorders where the far point of vision is closer to the retina than infinity. It can be caused by a number of factors and is usually benign, though it increases the risk of serious retinal pathology. The prevalence of myopia varies greatly between populations, from around 25% in Western countries to over 75% in some Asian countries. Myopia is classified into physiological, intermediate, and pathological types based on clinical findings and prognosis. Physiological myopia is usually mild and stable, while pathological myopia often results in blindness from macular degeneration or retinal detachment.
This document discusses skin diversity and phenotypic variation between and within human races. It notes that people of the same race can look completely different from one another due to variations in skin color, eye color, and other physical traits. These differences are caused by differing amounts of melanin pigment in skin and eyes. The document explores how the author's understanding of skin tones and their associations with different parts of the world has evolved over time and with exposure to more diverse populations.
Humans originated in Africa with dark skin to protect against high UV radiation levels. As humans migrated to regions with lower UV levels, genetic mutations occurred leading to lighter skin tones that allowed more vitamin D production. Variations in melanin pigmentation across populations developed as an adaptation to local UV exposure levels and resulted in different skin, hair, and eye colors distributed globally according to UV maps. Today, genetic mutations continue to affect melanin levels and produce variations in human features.
This document summarizes genetic ophthalmic disorders including color blindness and glaucoma. It describes the normal eye structure and defines color blindness as a color vision deficiency making it difficult to perceive color differences. It discusses the types of color blindness including red-green, blue cone monochromacy, and blue-yellow deficiencies. Glaucoma is defined as abnormally high fluid pressure in the eye, most commonly caused by blockage of the drainage channel or pressure from the iris on the lens. The two main types are open-angle and angle-closure glaucoma. Causes, signs, diagnosis, and treatments are described for both conditions.
If you do not have healthy cones, then you will face difficulties in colour perception. This condition is called colour blindness. To know more about colour blindness, go through this presentation.
Disha Eye Care Hospital offers excellent eye care treatment in Kolkata. For booking an appointment call at: 9433311111.
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by oculocutaneous albinism which causes abnormal pigmentation of the skin, hair and eyes. It is caused by mutations in genes responsible for producing protein complexes that construct lysosome-related organelles important for pigment production. The condition is inherited in an autosomal recessive pattern and causes fair skin/hair color, visual impairment, and increased risk of skin damage from sun exposure. Diagnosis involves examining physical features and genetic testing. While there is no cure, treatment focuses on protecting the skin and eyes from sun exposure.
Albinism is a genetic disorder characterized by little or no production of melanin pigment. This results in white hair, pale skin, and vision problems. There are two main types - oculocutaneous albinism, which affects the eyes, skin, and hair, and ocular albinism, which only affects the eyes. The types are distinguished by their genetic cause and symptoms. Albinism is inherited through autosomal recessive or X-linked inheritance patterns. Diagnosis involves examining family history, vision, skin pigmentation, and sometimes genetic testing. There is no cure, but treatments focus on managing vision problems and protecting the skin from sun exposure.
This document discusses sensory impairment, deafblindness, hearing impairment, and blindness. It defines sensory impairment as when one of the senses is no longer normal, such as needing glasses or a hearing aid. Deafblindness occurs when a person has difficulties with both seeing and hearing. Hearing impairment is classified based on decibel levels and can be conductive, sensorineural, or mixed. Causes of hearing loss include genetic factors, infections, ear injuries, and age-related causes. Blindness can be near-sightedness, farsightedness, presbyopia, astigmatism, or color blindness. Causes of blindness include congenital factors and post-birth causes such as infections, glaucoma
Alzheimer's disease is a progressive brain disease that causes memory loss and cognitive decline. It is the most common cause of dementia among older adults. The disease is characterized by two hallmarks - neuritic plaques formed by amyloid-beta protein fragments, and neurofibrillary tangles made up of tau protein inside neurons. It gradually destroys brain cells in areas responsible for memory and cognition. While symptoms start out mild, the disease gets worse over time and can lead to severe brain damage. There are genetic and lifestyle risk factors associated with Alzheimer's but currently there is no cure.
Alzheimer's disease is a progressive brain disorder that destroys memory and thinking skills. It is the most common cause of dementia, which is a set of symptoms that may include memory loss and difficulties with thinking, problem-solving or language. Alzheimer's disease is caused by plaques and tangles that build up in the brain, which are made up of proteins called amyloid beta and tau. It usually affects those over 65 years of age and has no cure, eventually leading to severe brain damage and death. The first case was studied by Alois Alzheimer in 1906. Genetic factors like mutations in the amyloid precursor protein gene and the ApoE4 allele increase the risk of developing Alzheimer's disease.
A case of Alport syndrome presented with bilateral anterior lenticonusBIJCROO
Purpose: The aim of this study was to report a rare case of Alport syndrome presented with bilateral anterior
lenticonus in a 16-year-old boy.
Case report: A 16-year-old boy presented with decreased vision, a hearing defect, anemia, and proteinuria. His
best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both
eyes. He was managed by correction of refractive error and urgent referral to a nephrologist.
Conclusion: It is easy to diagnose Alport syndrome clinically, and close communication among ophthalmologists,
otorhinolaryngologists, and nephrologists is crucial for effective management of this syndrome.
Sex linkage and color blindness are discussed. Color blindness is a genetic condition where individuals have difficulty distinguishing between certain colors, particularly red and green. It is caused by genes on the X chromosome, so it occurs more often in males. There are several types of color blindness depending on which cone is affected - protanopia affects red cones, deuteranopia affects green cones, and tritanopia affects blue cones. Color blindness is detected using charts with colored dots arranged in patterns that color blind individuals see differently. Effects include problems distinguishing colors and difficulties in activities like cooking, gardening, sports and driving.
Color blindness, also known as color vision deficiency, is the inability to perceive differences between some colors that others can distinguish. It is often genetic but can also be caused by eye, nerve, or brain damage or chemical exposure. The most common types are red-green deficiencies but it is also possible to be deficient in blue perception or see only in black and white. Color blindness is diagnosed using tests that show numbers or patterns embedded in color plates that those with normal color vision can see but those who are color deficient may not be able to distinguish.
Blindness can be caused by several factors including diseases, abnormalities, injuries, and poisoning. The most common causes of blindness worldwide are cataracts, glaucoma, age-related macular degeneration, corneal opacity, and diabetic retinopathy. People in developing countries are more likely to experience visual impairment from treatable conditions like cataracts, trachoma, and river blindness due to limited access to medical care. While most blindness in developed nations is due to age-related causes, childhood blindness can be reduced by preventing conditions related to pregnancy complications.
Discovery of An Apparent Red, High-Velocity Type Ia Supernova at 𝐳 = 2.9 wi...Sérgio Sacani
We present the JWST discovery of SN 2023adsy, a transient object located in a host galaxy JADES-GS
+
53.13485
−
27.82088
with a host spectroscopic redshift of
2.903
±
0.007
. The transient was identified in deep James Webb Space Telescope (JWST)/NIRCam imaging from the JWST Advanced Deep Extragalactic Survey (JADES) program. Photometric and spectroscopic followup with NIRCam and NIRSpec, respectively, confirm the redshift and yield UV-NIR light-curve, NIR color, and spectroscopic information all consistent with a Type Ia classification. Despite its classification as a likely SN Ia, SN 2023adsy is both fairly red (
�
(
�
−
�
)
∼
0.9
) despite a host galaxy with low-extinction and has a high Ca II velocity (
19
,
000
±
2
,
000
km/s) compared to the general population of SNe Ia. While these characteristics are consistent with some Ca-rich SNe Ia, particularly SN 2016hnk, SN 2023adsy is intrinsically brighter than the low-
�
Ca-rich population. Although such an object is too red for any low-
�
cosmological sample, we apply a fiducial standardization approach to SN 2023adsy and find that the SN 2023adsy luminosity distance measurement is in excellent agreement (
≲
1
�
) with
Λ
CDM. Therefore unlike low-
�
Ca-rich SNe Ia, SN 2023adsy is standardizable and gives no indication that SN Ia standardized luminosities change significantly with redshift. A larger sample of distant SNe Ia is required to determine if SN Ia population characteristics at high-
�
truly diverge from their low-
�
counterparts, and to confirm that standardized luminosities nevertheless remain constant with redshift.
The cost of acquiring information by natural selectionCarl Bergstrom
This is a short talk that I gave at the Banff International Research Station workshop on Modeling and Theory in Population Biology. The idea is to try to understand how the burden of natural selection relates to the amount of information that selection puts into the genome.
It's based on the first part of this research paper:
The cost of information acquisition by natural selection
Ryan Seamus McGee, Olivia Kosterlitz, Artem Kaznatcheev, Benjamin Kerr, Carl T. Bergstrom
bioRxiv 2022.07.02.498577; doi: https://doi.org/10.1101/2022.07.02.498577
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...Leonel Morgado
Current descriptions of immersive learning cases are often difficult or impossible to compare. This is due to a myriad of different options on what details to include, which aspects are relevant, and on the descriptive approaches employed. Also, these aspects often combine very specific details with more general guidelines or indicate intents and rationales without clarifying their implementation. In this paper we provide a method to describe immersive learning cases that is structured to enable comparisons, yet flexible enough to allow researchers and practitioners to decide which aspects to include. This method leverages a taxonomy that classifies educational aspects at three levels (uses, practices, and strategies) and then utilizes two frameworks, the Immersive Learning Brain and the Immersion Cube, to enable a structured description and interpretation of immersive learning cases. The method is then demonstrated on a published immersive learning case on training for wind turbine maintenance using virtual reality. Applying the method results in a structured artifact, the Immersive Learning Case Sheet, that tags the case with its proximal uses, practices, and strategies, and refines the free text case description to ensure that matching details are included. This contribution is thus a case description method in support of future comparative research of immersive learning cases. We then discuss how the resulting description and interpretation can be leveraged to change immersion learning cases, by enriching them (considering low-effort changes or additions) or innovating (exploring more challenging avenues of transformation). The method holds significant promise to support better-grounded research in immersive learning.
This document provides information about various eye diseases from the National Eye Institute website. It begins with an overview of the anatomy of the eye and lists many common eye diseases. Separate articles then provide more detailed information about cataract, retinal detachment, and corneal disease. For each disease, it discusses symptoms, causes, risk factors and additional resources for more information available on the National Eye Institute website.
This document discusses color blindness, including what it is, its causes, types, diagnosis, and treatment. Color blindness is the inability to see certain colors or distinguish between colors. It is most often a genetic condition caused by abnormalities in the cones of the eye. There are several types depending on which cones are affected, such as red-green color blindness. It is typically diagnosed using tests like the Ishihara Plate test. While there is no cure, tools like color filters can help some with color vision deficiencies see color more clearly. The document also outlines inheritance patterns and challenges people with color blindness may face.
Myopia, commonly known as nearsightedness, refers to a spectrum of eye disorders where the far point of vision is closer to the retina than infinity. It can be caused by a number of factors and is usually benign, though it increases the risk of serious retinal pathology. The prevalence of myopia varies greatly between populations, from around 25% in Western countries to over 75% in some Asian countries. Myopia is classified into physiological, intermediate, and pathological types based on clinical findings and prognosis. Physiological myopia is usually mild and stable, while pathological myopia often results in blindness from macular degeneration or retinal detachment.
This document discusses skin diversity and phenotypic variation between and within human races. It notes that people of the same race can look completely different from one another due to variations in skin color, eye color, and other physical traits. These differences are caused by differing amounts of melanin pigment in skin and eyes. The document explores how the author's understanding of skin tones and their associations with different parts of the world has evolved over time and with exposure to more diverse populations.
Humans originated in Africa with dark skin to protect against high UV radiation levels. As humans migrated to regions with lower UV levels, genetic mutations occurred leading to lighter skin tones that allowed more vitamin D production. Variations in melanin pigmentation across populations developed as an adaptation to local UV exposure levels and resulted in different skin, hair, and eye colors distributed globally according to UV maps. Today, genetic mutations continue to affect melanin levels and produce variations in human features.
This document summarizes genetic ophthalmic disorders including color blindness and glaucoma. It describes the normal eye structure and defines color blindness as a color vision deficiency making it difficult to perceive color differences. It discusses the types of color blindness including red-green, blue cone monochromacy, and blue-yellow deficiencies. Glaucoma is defined as abnormally high fluid pressure in the eye, most commonly caused by blockage of the drainage channel or pressure from the iris on the lens. The two main types are open-angle and angle-closure glaucoma. Causes, signs, diagnosis, and treatments are described for both conditions.
If you do not have healthy cones, then you will face difficulties in colour perception. This condition is called colour blindness. To know more about colour blindness, go through this presentation.
Disha Eye Care Hospital offers excellent eye care treatment in Kolkata. For booking an appointment call at: 9433311111.
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by oculocutaneous albinism which causes abnormal pigmentation of the skin, hair and eyes. It is caused by mutations in genes responsible for producing protein complexes that construct lysosome-related organelles important for pigment production. The condition is inherited in an autosomal recessive pattern and causes fair skin/hair color, visual impairment, and increased risk of skin damage from sun exposure. Diagnosis involves examining physical features and genetic testing. While there is no cure, treatment focuses on protecting the skin and eyes from sun exposure.
Albinism is a genetic disorder characterized by little or no production of melanin pigment. This results in white hair, pale skin, and vision problems. There are two main types - oculocutaneous albinism, which affects the eyes, skin, and hair, and ocular albinism, which only affects the eyes. The types are distinguished by their genetic cause and symptoms. Albinism is inherited through autosomal recessive or X-linked inheritance patterns. Diagnosis involves examining family history, vision, skin pigmentation, and sometimes genetic testing. There is no cure, but treatments focus on managing vision problems and protecting the skin from sun exposure.
This document discusses sensory impairment, deafblindness, hearing impairment, and blindness. It defines sensory impairment as when one of the senses is no longer normal, such as needing glasses or a hearing aid. Deafblindness occurs when a person has difficulties with both seeing and hearing. Hearing impairment is classified based on decibel levels and can be conductive, sensorineural, or mixed. Causes of hearing loss include genetic factors, infections, ear injuries, and age-related causes. Blindness can be near-sightedness, farsightedness, presbyopia, astigmatism, or color blindness. Causes of blindness include congenital factors and post-birth causes such as infections, glaucoma
Alzheimer's disease is a progressive brain disease that causes memory loss and cognitive decline. It is the most common cause of dementia among older adults. The disease is characterized by two hallmarks - neuritic plaques formed by amyloid-beta protein fragments, and neurofibrillary tangles made up of tau protein inside neurons. It gradually destroys brain cells in areas responsible for memory and cognition. While symptoms start out mild, the disease gets worse over time and can lead to severe brain damage. There are genetic and lifestyle risk factors associated with Alzheimer's but currently there is no cure.
Alzheimer's disease is a progressive brain disorder that destroys memory and thinking skills. It is the most common cause of dementia, which is a set of symptoms that may include memory loss and difficulties with thinking, problem-solving or language. Alzheimer's disease is caused by plaques and tangles that build up in the brain, which are made up of proteins called amyloid beta and tau. It usually affects those over 65 years of age and has no cure, eventually leading to severe brain damage and death. The first case was studied by Alois Alzheimer in 1906. Genetic factors like mutations in the amyloid precursor protein gene and the ApoE4 allele increase the risk of developing Alzheimer's disease.
A case of Alport syndrome presented with bilateral anterior lenticonusBIJCROO
Purpose: The aim of this study was to report a rare case of Alport syndrome presented with bilateral anterior
lenticonus in a 16-year-old boy.
Case report: A 16-year-old boy presented with decreased vision, a hearing defect, anemia, and proteinuria. His
best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both
eyes. He was managed by correction of refractive error and urgent referral to a nephrologist.
Conclusion: It is easy to diagnose Alport syndrome clinically, and close communication among ophthalmologists,
otorhinolaryngologists, and nephrologists is crucial for effective management of this syndrome.
Sex linkage and color blindness are discussed. Color blindness is a genetic condition where individuals have difficulty distinguishing between certain colors, particularly red and green. It is caused by genes on the X chromosome, so it occurs more often in males. There are several types of color blindness depending on which cone is affected - protanopia affects red cones, deuteranopia affects green cones, and tritanopia affects blue cones. Color blindness is detected using charts with colored dots arranged in patterns that color blind individuals see differently. Effects include problems distinguishing colors and difficulties in activities like cooking, gardening, sports and driving.
Color blindness, also known as color vision deficiency, is the inability to perceive differences between some colors that others can distinguish. It is often genetic but can also be caused by eye, nerve, or brain damage or chemical exposure. The most common types are red-green deficiencies but it is also possible to be deficient in blue perception or see only in black and white. Color blindness is diagnosed using tests that show numbers or patterns embedded in color plates that those with normal color vision can see but those who are color deficient may not be able to distinguish.
Blindness can be caused by several factors including diseases, abnormalities, injuries, and poisoning. The most common causes of blindness worldwide are cataracts, glaucoma, age-related macular degeneration, corneal opacity, and diabetic retinopathy. People in developing countries are more likely to experience visual impairment from treatable conditions like cataracts, trachoma, and river blindness due to limited access to medical care. While most blindness in developed nations is due to age-related causes, childhood blindness can be reduced by preventing conditions related to pregnancy complications.
Discovery of An Apparent Red, High-Velocity Type Ia Supernova at 𝐳 = 2.9 wi...Sérgio Sacani
We present the JWST discovery of SN 2023adsy, a transient object located in a host galaxy JADES-GS
+
53.13485
−
27.82088
with a host spectroscopic redshift of
2.903
±
0.007
. The transient was identified in deep James Webb Space Telescope (JWST)/NIRCam imaging from the JWST Advanced Deep Extragalactic Survey (JADES) program. Photometric and spectroscopic followup with NIRCam and NIRSpec, respectively, confirm the redshift and yield UV-NIR light-curve, NIR color, and spectroscopic information all consistent with a Type Ia classification. Despite its classification as a likely SN Ia, SN 2023adsy is both fairly red (
�
(
�
−
�
)
∼
0.9
) despite a host galaxy with low-extinction and has a high Ca II velocity (
19
,
000
±
2
,
000
km/s) compared to the general population of SNe Ia. While these characteristics are consistent with some Ca-rich SNe Ia, particularly SN 2016hnk, SN 2023adsy is intrinsically brighter than the low-
�
Ca-rich population. Although such an object is too red for any low-
�
cosmological sample, we apply a fiducial standardization approach to SN 2023adsy and find that the SN 2023adsy luminosity distance measurement is in excellent agreement (
≲
1
�
) with
Λ
CDM. Therefore unlike low-
�
Ca-rich SNe Ia, SN 2023adsy is standardizable and gives no indication that SN Ia standardized luminosities change significantly with redshift. A larger sample of distant SNe Ia is required to determine if SN Ia population characteristics at high-
�
truly diverge from their low-
�
counterparts, and to confirm that standardized luminosities nevertheless remain constant with redshift.
The cost of acquiring information by natural selectionCarl Bergstrom
This is a short talk that I gave at the Banff International Research Station workshop on Modeling and Theory in Population Biology. The idea is to try to understand how the burden of natural selection relates to the amount of information that selection puts into the genome.
It's based on the first part of this research paper:
The cost of information acquisition by natural selection
Ryan Seamus McGee, Olivia Kosterlitz, Artem Kaznatcheev, Benjamin Kerr, Carl T. Bergstrom
bioRxiv 2022.07.02.498577; doi: https://doi.org/10.1101/2022.07.02.498577
Describing and Interpreting an Immersive Learning Case with the Immersion Cub...Leonel Morgado
Current descriptions of immersive learning cases are often difficult or impossible to compare. This is due to a myriad of different options on what details to include, which aspects are relevant, and on the descriptive approaches employed. Also, these aspects often combine very specific details with more general guidelines or indicate intents and rationales without clarifying their implementation. In this paper we provide a method to describe immersive learning cases that is structured to enable comparisons, yet flexible enough to allow researchers and practitioners to decide which aspects to include. This method leverages a taxonomy that classifies educational aspects at three levels (uses, practices, and strategies) and then utilizes two frameworks, the Immersive Learning Brain and the Immersion Cube, to enable a structured description and interpretation of immersive learning cases. The method is then demonstrated on a published immersive learning case on training for wind turbine maintenance using virtual reality. Applying the method results in a structured artifact, the Immersive Learning Case Sheet, that tags the case with its proximal uses, practices, and strategies, and refines the free text case description to ensure that matching details are included. This contribution is thus a case description method in support of future comparative research of immersive learning cases. We then discuss how the resulting description and interpretation can be leveraged to change immersion learning cases, by enriching them (considering low-effort changes or additions) or innovating (exploring more challenging avenues of transformation). The method holds significant promise to support better-grounded research in immersive learning.
ESA/ACT Science Coffee: Diego Blas - Gravitational wave detection with orbita...Advanced-Concepts-Team
Presentation in the Science Coffee of the Advanced Concepts Team of the European Space Agency on the 07.06.2024.
Speaker: Diego Blas (IFAE/ICREA)
Title: Gravitational wave detection with orbital motion of Moon and artificial
Abstract:
In this talk I will describe some recent ideas to find gravitational waves from supermassive black holes or of primordial origin by studying their secular effect on the orbital motion of the Moon or satellites that are laser ranged.
(June 12, 2024) Webinar: Development of PET theranostics targeting the molecu...Scintica Instrumentation
Targeting Hsp90 and its pathogen Orthologs with Tethered Inhibitors as a Diagnostic and Therapeutic Strategy for cancer and infectious diseases with Dr. Timothy Haystead.
Candidate young stellar objects in the S-cluster: Kinematic analysis of a sub...Sérgio Sacani
Context. The observation of several L-band emission sources in the S cluster has led to a rich discussion of their nature. However, a definitive answer to the classification of the dusty objects requires an explanation for the detection of compact Doppler-shifted Brγ emission. The ionized hydrogen in combination with the observation of mid-infrared L-band continuum emission suggests that most of these sources are embedded in a dusty envelope. These embedded sources are part of the S-cluster, and their relationship to the S-stars is still under debate. To date, the question of the origin of these two populations has been vague, although all explanations favor migration processes for the individual cluster members. Aims. This work revisits the S-cluster and its dusty members orbiting the supermassive black hole SgrA* on bound Keplerian orbits from a kinematic perspective. The aim is to explore the Keplerian parameters for patterns that might imply a nonrandom distribution of the sample. Additionally, various analytical aspects are considered to address the nature of the dusty sources. Methods. Based on the photometric analysis, we estimated the individual H−K and K−L colors for the source sample and compared the results to known cluster members. The classification revealed a noticeable contrast between the S-stars and the dusty sources. To fit the flux-density distribution, we utilized the radiative transfer code HYPERION and implemented a young stellar object Class I model. We obtained the position angle from the Keplerian fit results; additionally, we analyzed the distribution of the inclinations and the longitudes of the ascending node. Results. The colors of the dusty sources suggest a stellar nature consistent with the spectral energy distribution in the near and midinfrared domains. Furthermore, the evaporation timescales of dusty and gaseous clumps in the vicinity of SgrA* are much shorter ( 2yr) than the epochs covered by the observations (≈15yr). In addition to the strong evidence for the stellar classification of the D-sources, we also find a clear disk-like pattern following the arrangements of S-stars proposed in the literature. Furthermore, we find a global intrinsic inclination for all dusty sources of 60 ± 20◦, implying a common formation process. Conclusions. The pattern of the dusty sources manifested in the distribution of the position angles, inclinations, and longitudes of the ascending node strongly suggests two different scenarios: the main-sequence stars and the dusty stellar S-cluster sources share a common formation history or migrated with a similar formation channel in the vicinity of SgrA*. Alternatively, the gravitational influence of SgrA* in combination with a massive perturber, such as a putative intermediate mass black hole in the IRS 13 cluster, forces the dusty objects and S-stars to follow a particular orbital arrangement. Key words. stars: black holes– stars: formation– Galaxy: center– galaxies: star formation
Mechanisms and Applications of Antiviral Neutralizing Antibodies - Creative B...Creative-Biolabs
Neutralizing antibodies, pivotal in immune defense, specifically bind and inhibit viral pathogens, thereby playing a crucial role in protecting against and mitigating infectious diseases. In this slide, we will introduce what antibodies and neutralizing antibodies are, the production and regulation of neutralizing antibodies, their mechanisms of action, classification and applications, as well as the challenges they face.
Immersive Learning That Works: Research Grounding and Paths ForwardLeonel Morgado
We will metaverse into the essence of immersive learning, into its three dimensions and conceptual models. This approach encompasses elements from teaching methodologies to social involvement, through organizational concerns and technologies. Challenging the perception of learning as knowledge transfer, we introduce a 'Uses, Practices & Strategies' model operationalized by the 'Immersive Learning Brain' and ‘Immersion Cube’ frameworks. This approach offers a comprehensive guide through the intricacies of immersive educational experiences and spotlighting research frontiers, along the immersion dimensions of system, narrative, and agency. Our discourse extends to stakeholders beyond the academic sphere, addressing the interests of technologists, instructional designers, and policymakers. We span various contexts, from formal education to organizational transformation to the new horizon of an AI-pervasive society. This keynote aims to unite the iLRN community in a collaborative journey towards a future where immersive learning research and practice coalesce, paving the way for innovative educational research and practice landscapes.
1. The Mystery of the Blue Eye
hubpages.com/health/The-mystery-of-the-blue-eye
Blue eye mystery: Genetic mutation or any eye problem?
Although blue-eyed people are not commonly seen, it is not impossible to see them.
There is a strange resemblance of Caucasian descent with blue eyes. According to a
survey conducted on the basis of eye color in different parts of the world, two types of
human eye color can be blue.
Because of a genetic change from an ancestor in the distant past.
Due to pigment changes as a result of any eye disease (e.g., ocular albinism).
In the case of black people, the origin of blue eyes
For black people, blue eyes are no different from the history of mainstream eye color. In
this case, according to the information obtained from the survey-
At one time in the distant past, the color of the eyes of all the people of the world was
basically brown.
A study by the University of Copenhagen's Professor Hans Eiberg and his team of Danish
scientists found that-
The history of the existence of any bright color in the case of the eyes is basically about
10,000 years from now.
According to the study, Iberg and his team identified about 600 men and women from
different countries and conducted detailed research on the ‘eye type and species’ of
each of them. As a result, they found that people with blue eyes had almost identical eye
DNA sequences. In this case, they find a general relationship. According to their data-
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2. Everyone with blue eyes is a common feature among them, carrying the trait of a genetic
mutation that came from southeastern Europe 10,000 years ago.
According to this relationship, if someone has blue eyes, he or she may be related to
Hollywood star Matt Damon or Eliza Wood in some ancient genetic bond! Everyone with
blue eyes is associated with a past clan.
Like all other human beings, a black person is a product of genetic change. But in the
case of blacks, this evolution came from Europe, so it is very difficult to see blue eyes in a
child of this color. Again, if a black baby is born with an eye problem caused by 'ocular
albinism', then the baby's eye color maybe blue.
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Genetic changes
We have a kind of brown pigment called ‘melanin’ in our eyes. The change in the OCA2
gene of this melanin pigment is mainly due to a blue change in eye color.
Hans Iberg, professor of cell and molecular medicine at the University of Copenhagen,
said:
Every one of mankind once had brown eyes. But later on, the evolution of the OCA2 gene
on the chromosomes of many people caused a change in eye color and as a result, they
lost the ability to be born with brown eyes.
In this case, the issue of genetic mutation can be referred to as a defect in the process of
the creation of brown eyes. With evolution, there has been a ‘negative change’ in the
production process of melanin in the eyes of many of us. Too little melanin interferes
with the formation of brown eyes in many babies and as a result, some babies are born
with blue eyes.
Eye problems
In addition to normal genetic changes, blue eyes may be visible in children due to some
other eye problems. The two main problems that have come up in the study are-
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3. Wardenberg syndrome
Occular albinism
In the case of the eye, pigmentation changes if there is one of the two problems
mentioned above and the result is a change in the color of the eye due to six different
‘genes’. In the case of such health problems, the process of growth and development of
pigment production cells is hampered. As a result, the OCA2 gene produces much less
pigment and produces bright blue eyes instead of brown eyes.
In the case of Waardenburg syndrome, there is usually no pigment deficiency. But in this
case, the issue is related to ‘hearing problems and heterochromia’. In the case of ocular
albinism, like all other albinism problems, there are serious ‘vision problems’. Notable
among these problems are eye sensitivity to light and abnormal eye movement.
Why are most blue-eyed Europeans?
As mentioned earlier, the eyes of the majority of the world's population are usually
brown. Pink is the color of the eyes of most people, especially in Asia and Africa. But in
the case of Europe, the picture is a little different. Most of the variations in human eye
color in the world are in Europe. Most people with blue eyes are Europeans. In fact, 70
percent of the world's diverse eye color people live in European countries. Especially
residents of Estonia and Finland.
In the case of blue eyes, the source of mutation or evolution came from Europe. This is
exactly why most blue-eyed people in Europe are based on regionalism.
In this case, another proposal is not to be discarded
Generally speaking, the early Europeans were generally a little pickier in their personal
lives than in other parts of the world. When it comes to choosing a partner, they always
give priority to their 'history and tradition'. Again, any handsome blue-eyed man in
Europe is the center of interest for many girls around the world. On the one hand, this
explains the prevalence of blue eyes in early Europe, and on the other hand, it increases
the chances of having blue eyes in the next generation of men living in different parts of
the world from Europe.
Can blue eyes be omitted in the case of a generation?
Blue eyes can be excluded in the case of not just one generation but multiple
generations. If someone in the family has blue eyes, then there is no guarantee that
someone in the next generation will have blue eyes. If both parents have blue eyes, then
one of their future generations may also have blue or hazel eyes. However, blue eyes can
certainly be seen in later generations. The subject is entirely evolutionary and gene-
centric.
Which is the most uncommon eye color?
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4. A study of human eye color from different parts of the world has clearly shown that the
most uncommon color in the human eye is green. The color of the eyes of the majority
of people in the world is usually pink or black. On the other hand, about 2 percent of the
world's people have green eyes. In the case of blue eyes, the ratio is 6 percent.
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