MSUD, or maple syrup urine disease, is a rare autosomal recessive genetic disorder that prevents the breakdown of the branched-chain amino acids leucine, isoleucine, and valine. It can be life-threatening if not treated early through a very restricted diet that avoids these amino acids and intravenous therapy if amino acid levels rise too high. The disease causes a sweet-smelling urine due to high amino acid levels and, if untreated, can cause rapid brain damage in infants. Diagnosis is through newborn screening and treatment must begin immediately to prevent health issues.
When a woman consumes alcohol during pregnancy, her baby is at risk for fetal alcohol syndrome (FAS), characterized by facial abnormalities, stunted growth, and central nervous system problems. Alcohol exposure during any trimester can cause permanent damage, and the effects range from FAS to other disorders part of the fetal alcohol spectrum. While FAS cannot be treated, preventing alcohol consumption during pregnancy can eliminate the risk of this 100% preventable condition and give the child the best chance at a healthy life.
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a very rare, progressive and fatal autosomal recessive disease caused by mutations in the thymidine phosphorylase gene. It is characterized by gastrointestinal and neurological symptoms such as altered GI motility, cachexia, ptosis, and peripheral neuropathy. Diagnostic tests include brain MRI showing leukoencephalopathy and nerve conduction studies demonstrating demyelinating neuropathies. Treatment options include temporary measures like dialysis and encapsulated thymidine phosphorylase, as well as permanent treatments like hematopoietic stem cell transplantation and liver transplantation.
Children with Down syndrome displayed less problematic behaviors than expected in an observational study. The 10 children interacted well with each other and teachers, expressing emotions through facial expressions and body language rather than words. They enjoyed group activities and play. While they became upset if someone took their things or spoke aggressively, they calmed down easily with affection. The children's behaviors seemed linked more to environmental stimuli than their medical condition alone.
The document summarizes the regulation of glycolysis and the TCA cycle. For glycolysis, three key enzymes (hexokinase, phosphofructokinase, and pyruvate kinase) are regulated by hormones like insulin and glucagon. Their activity is also controlled by allosteric effectors and covalent modification. For the TCA cycle, the ratios of NADH/NAD+ and ATP/ADP provide feedback to regulate the cycle. Specifically, citrate synthase and isocitrate dehydrogenase are inhibited by accumulated products to regulate the entry and second reaction of the cycle.
This document discusses glycogen storage disorders (GSD), specifically GSD type 1a (von Gierke's disease). It begins with an overview and lists the different types of GSD. It then provides more details on the background, causes, signs and symptoms, diagnosis, and treatment of GSD type 1a. GSD type 1a is caused by a deficiency of the glucose-6-phosphatase enzyme and results in glycogen accumulation in the liver and kidneys. Patients experience hypoglycemia, lactic acidosis, ketosis, and hyperlipidemia. Diagnosis involves blood and urine tests and liver biopsy to check enzyme levels. Treatment focuses on dietary management to avoid low blood glucose.
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. Without treatment, high phenylalanine levels can cause intellectual disabilities and other neurological problems. Treatment involves a lifelong low-phenylalanine diet using phenylalanine-free medical foods and supplements. Tyrosinemia and Wilson's disease are also inherited disorders of amino acid or copper metabolism that can cause liver, neurological and other health issues if left untreated. Medical nutrition therapy and medication are used to manage symptoms and prevent complications.
MSUD, or maple syrup urine disease, is a rare autosomal recessive genetic disorder that prevents the breakdown of the branched-chain amino acids leucine, isoleucine, and valine. It can be life-threatening if not treated early through a very restricted diet that avoids these amino acids and intravenous therapy if amino acid levels rise too high. The disease causes a sweet-smelling urine due to high amino acid levels and, if untreated, can cause rapid brain damage in infants. Diagnosis is through newborn screening and treatment must begin immediately to prevent health issues.
When a woman consumes alcohol during pregnancy, her baby is at risk for fetal alcohol syndrome (FAS), characterized by facial abnormalities, stunted growth, and central nervous system problems. Alcohol exposure during any trimester can cause permanent damage, and the effects range from FAS to other disorders part of the fetal alcohol spectrum. While FAS cannot be treated, preventing alcohol consumption during pregnancy can eliminate the risk of this 100% preventable condition and give the child the best chance at a healthy life.
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a very rare, progressive and fatal autosomal recessive disease caused by mutations in the thymidine phosphorylase gene. It is characterized by gastrointestinal and neurological symptoms such as altered GI motility, cachexia, ptosis, and peripheral neuropathy. Diagnostic tests include brain MRI showing leukoencephalopathy and nerve conduction studies demonstrating demyelinating neuropathies. Treatment options include temporary measures like dialysis and encapsulated thymidine phosphorylase, as well as permanent treatments like hematopoietic stem cell transplantation and liver transplantation.
Children with Down syndrome displayed less problematic behaviors than expected in an observational study. The 10 children interacted well with each other and teachers, expressing emotions through facial expressions and body language rather than words. They enjoyed group activities and play. While they became upset if someone took their things or spoke aggressively, they calmed down easily with affection. The children's behaviors seemed linked more to environmental stimuli than their medical condition alone.
The document summarizes the regulation of glycolysis and the TCA cycle. For glycolysis, three key enzymes (hexokinase, phosphofructokinase, and pyruvate kinase) are regulated by hormones like insulin and glucagon. Their activity is also controlled by allosteric effectors and covalent modification. For the TCA cycle, the ratios of NADH/NAD+ and ATP/ADP provide feedback to regulate the cycle. Specifically, citrate synthase and isocitrate dehydrogenase are inhibited by accumulated products to regulate the entry and second reaction of the cycle.
This document discusses glycogen storage disorders (GSD), specifically GSD type 1a (von Gierke's disease). It begins with an overview and lists the different types of GSD. It then provides more details on the background, causes, signs and symptoms, diagnosis, and treatment of GSD type 1a. GSD type 1a is caused by a deficiency of the glucose-6-phosphatase enzyme and results in glycogen accumulation in the liver and kidneys. Patients experience hypoglycemia, lactic acidosis, ketosis, and hyperlipidemia. Diagnosis involves blood and urine tests and liver biopsy to check enzyme levels. Treatment focuses on dietary management to avoid low blood glucose.
Phenylketonuria (PKU) is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. Without treatment, high phenylalanine levels can cause intellectual disabilities and other neurological problems. Treatment involves a lifelong low-phenylalanine diet using phenylalanine-free medical foods and supplements. Tyrosinemia and Wilson's disease are also inherited disorders of amino acid or copper metabolism that can cause liver, neurological and other health issues if left untreated. Medical nutrition therapy and medication are used to manage symptoms and prevent complications.
The document discusses the use of tracer techniques in biogenetic studies of plants. Tracer techniques involve using radioactive isotopes or stable isotopes as tracers to follow metabolic pathways and identify intermediates. Common radioactive tracers used include carbon-14, hydrogen-3, sulfur-35, and phosphorus-32. The technique allows sensitive investigation of living systems and provides accurate results. Tracer studies have helped elucidate pathways for various plant secondary metabolites like terpenoids, alkaloids, and phenylpropanoids.
biochemistry slides for mbbs on metabolism of mono saccheridesVamshi Krishna
The document discusses fructose and galactose metabolism, including how fructose must be phosphorylated by fructokinase before entering metabolic pathways. It also describes disorders that can occur due to deficiencies in enzymes involved in fructose or galactose metabolism, such as hereditary fructose intolerance. Additionally, the roles of sorbitol and galactose in metabolism are covered, as well as disorders related to the sorbitol pathway and galactose metabolism.
Lesch-Nyhan syndrome is a rare, inherited disorder caused by a deficiency of the HPRT enzyme. It is characterized by overproduction of uric acid leading to physical issues like kidney stones and neurological effects such as cognitive impairment and self-mutilation. There is no cure, and treatment focuses on managing symptoms. Prognosis is generally poor due to the neurological disabilities associated with the condition.
1) Alcohol is absorbed in the stomach and intestine and metabolized primarily in the liver by alcohol dehydrogenase (ADH) and cytochrome P450 enzymes, converting it mainly to acetaldehyde and then acetate.
2) Some people have a mutated form of ADH that metabolizes alcohol more slowly, leading to more severe intoxication from smaller amounts of alcohol.
3) Chronic alcohol metabolism disrupts many metabolic pathways by altering the NADH/NAD+ ratio in the liver, which can cause issues like fatty liver, hypoglycemia, and lactic acidosis.
Prostaglandins are lipid compounds that have diverse physiological effects in the body. They are synthesized from membrane phospholipids containing arachidonic acid. The main prostaglandins produced in the body are prostaglandin D2, E2, F2, I2, and thromboxane A2. Prostaglandins function through G-protein coupled receptors and have very short half-lives. They are involved in processes like vasodilation, inhibition of platelet aggregation, smooth muscle contraction, inflammation, and modulation of uterine contractions and gastric acid secretion.
Alkaptonuria is a rare inherited disorder caused by a defect in the HGD gene, resulting in a build up of homogentisic acid (HGA) in the body. Symptoms include black urine when exposed to air, joint pain and arthritis, dark spots in the eyes, and discolored skin and earwax. The condition is diagnosed through urine and genetic tests. Treatment focuses on symptom management through medications, therapy, and surgery. A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression.
Glycogen is the storage from of glucose. The metabolism of glycogen both as glycogenolysis, breakdown of glycogen, and glycogenesis, formation of glycogen along with their regulation is briefed in the slides.
Fetal alcohol syndrome (FAS) is the most severe type of fetal alcohol spectrum disorder (FASD) caused by alcohol consumption during pregnancy. It causes intellectual disabilities and physical abnormalities that vary between individuals. The brain damage caused by FAS is permanent as alcohol exposure during pregnancy interferes with cell growth and development. Common signs include distinctive facial features, growth problems, and neurological issues like learning disabilities and hyperactivity. Diagnosis involves assessing prenatal alcohol exposure and identifying characteristic symptoms. Treatment focuses on managing symptoms through educational and behavioral programs. The prognosis depends on the severity of symptoms, with early diagnosis and intervention helping to improve outcomes.
Gout is a metabolic disease caused by elevated levels of uric acid in the blood that leads to painful inflammation in joints. It was first identified by Egyptians and was known as the "Disease of Kings" due to its association with rich diets and alcohol consumption. Gout occurs when uric acid crystallizes and deposits in joints, tendons and surrounding tissues, causing sudden and severe attacks of pain, swelling and redness in the joints. Diagnosis involves physical examination of affected joints along with laboratory tests of serum uric acid levels and microscopic examination of synovial fluid to detect urate crystals. Treatment focuses on reducing uric acid production through medications and dietary changes to limit purine intake and prevent future gout
This document provides information about the sales administrator job role, including typical duties, qualifications, and templates for writing a job description. It discusses key responsibilities like processing orders, updating customer information, and assisting the sales team. The job requires a bachelor's degree, 1-3 years of related work experience, proficiency with Microsoft Office, and experience using customer relationship management systems. The document also provides resources for career development, including ebooks, interview questions, and tips for writing effective job descriptions and negotiating salary.
The document summarizes lung ventilation in different reptile groups. It states that while most reptiles rely solely on lung ventilation, lizards lack a diaphragm and instead use chest muscles. Some lizard species can also use throat muscles in a process called buccal pumping to force air into their lungs. In contrast, crocodilians have a muscular diaphragm similar to mammals that pulls the pelvis back to allow lung expansion during breathing.
Galactosemia is a rare genetic metabolic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for galactose metabolism. There are three main types depending on the specific enzyme deficiency. It is inherited in an autosomal recessive pattern and causes an inability to properly break down and use the sugar galactose. If left untreated, it can cause serious issues such as liver damage, cataracts, intellectual disabilities and more. Treatment involves a strict lifelong galactose-restricted diet.
Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
This document outlines the topics covered in a lecture on prostaglandins. The lecture will discuss an overview of prostaglandins, the different types of prostaglandins, their biosynthesis from arachidonic acid, inhibition of their synthesis, their biochemical actions including effects on blood pressure, inflammation, reproduction, and more. The lecture will also cover the biomedical applications of prostaglandins such as induction of labor and treatment of peptic ulcers.
The document summarizes the regulation of glycogen metabolism. Key points include:
- Glycogen synthesis (glycogenesis) and breakdown (glycogenolysis) are reciprocally regulated through phosphorylation/dephosphorylation of glycogen synthase and glycogen phosphorylase enzymes by hormones like insulin and glucagon.
- Insulin promotes glycogenesis by stimulating dephosphorylation while glucagon promotes glycogenolysis by stimulating phosphorylation via the cAMP pathway.
- Regulation allows the storage of glucose as glycogen when blood glucose is high and the release of glucose from glycogen when blood glucose is low to maintain homeostasis.
This document summarizes the key characteristics of tunicates (urochordates). It describes their habitat and habits, physical features, organ systems, life cycles, classification, and major orders. Tunicates are exclusively marine animals found around the world in oceans and seas. They can be solitary, colonial, or form aggregates. Their adult bodies are sac-like and lack segments or appendages.
Pomps disease | genetic disorder |neuromuscular disease |GAA disorderNEHA MALIK
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
What Is Fetal Alcohol Syndrome?
1) When a pregnant person drinks alcohol, some of that alcohol easily passes across the placenta to the fetus.
2) People with this condition may have problems with their vision, hearing, memory, attention span, and abilities to learn and communicate.
3) You can prevent fetal alcohol syndrome by avoiding alcohol during pregnancy.
Mental retardation, also known as intellectual disability, is a developmental disability characterized by limitations in intellectual functioning (IQ under 70-75) and adaptive behaviors that are diagnosed before age 18. It occurs in approximately 2-3% of the population and can be caused by genetic, prenatal, childhood, and environmental factors. Mental retardation is classified by severity into four categories: mild, moderate, severe, and profound. Treatment focuses on education, life skills training, supportive living, and family therapy.
The document discusses the use of tracer techniques in biogenetic studies of plants. Tracer techniques involve using radioactive isotopes or stable isotopes as tracers to follow metabolic pathways and identify intermediates. Common radioactive tracers used include carbon-14, hydrogen-3, sulfur-35, and phosphorus-32. The technique allows sensitive investigation of living systems and provides accurate results. Tracer studies have helped elucidate pathways for various plant secondary metabolites like terpenoids, alkaloids, and phenylpropanoids.
biochemistry slides for mbbs on metabolism of mono saccheridesVamshi Krishna
The document discusses fructose and galactose metabolism, including how fructose must be phosphorylated by fructokinase before entering metabolic pathways. It also describes disorders that can occur due to deficiencies in enzymes involved in fructose or galactose metabolism, such as hereditary fructose intolerance. Additionally, the roles of sorbitol and galactose in metabolism are covered, as well as disorders related to the sorbitol pathway and galactose metabolism.
Lesch-Nyhan syndrome is a rare, inherited disorder caused by a deficiency of the HPRT enzyme. It is characterized by overproduction of uric acid leading to physical issues like kidney stones and neurological effects such as cognitive impairment and self-mutilation. There is no cure, and treatment focuses on managing symptoms. Prognosis is generally poor due to the neurological disabilities associated with the condition.
1) Alcohol is absorbed in the stomach and intestine and metabolized primarily in the liver by alcohol dehydrogenase (ADH) and cytochrome P450 enzymes, converting it mainly to acetaldehyde and then acetate.
2) Some people have a mutated form of ADH that metabolizes alcohol more slowly, leading to more severe intoxication from smaller amounts of alcohol.
3) Chronic alcohol metabolism disrupts many metabolic pathways by altering the NADH/NAD+ ratio in the liver, which can cause issues like fatty liver, hypoglycemia, and lactic acidosis.
Prostaglandins are lipid compounds that have diverse physiological effects in the body. They are synthesized from membrane phospholipids containing arachidonic acid. The main prostaglandins produced in the body are prostaglandin D2, E2, F2, I2, and thromboxane A2. Prostaglandins function through G-protein coupled receptors and have very short half-lives. They are involved in processes like vasodilation, inhibition of platelet aggregation, smooth muscle contraction, inflammation, and modulation of uterine contractions and gastric acid secretion.
Alkaptonuria is a rare inherited disorder caused by a defect in the HGD gene, resulting in a build up of homogentisic acid (HGA) in the body. Symptoms include black urine when exposed to air, joint pain and arthritis, dark spots in the eyes, and discolored skin and earwax. The condition is diagnosed through urine and genetic tests. Treatment focuses on symptom management through medications, therapy, and surgery. A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression.
Glycogen is the storage from of glucose. The metabolism of glycogen both as glycogenolysis, breakdown of glycogen, and glycogenesis, formation of glycogen along with their regulation is briefed in the slides.
Fetal alcohol syndrome (FAS) is the most severe type of fetal alcohol spectrum disorder (FASD) caused by alcohol consumption during pregnancy. It causes intellectual disabilities and physical abnormalities that vary between individuals. The brain damage caused by FAS is permanent as alcohol exposure during pregnancy interferes with cell growth and development. Common signs include distinctive facial features, growth problems, and neurological issues like learning disabilities and hyperactivity. Diagnosis involves assessing prenatal alcohol exposure and identifying characteristic symptoms. Treatment focuses on managing symptoms through educational and behavioral programs. The prognosis depends on the severity of symptoms, with early diagnosis and intervention helping to improve outcomes.
Gout is a metabolic disease caused by elevated levels of uric acid in the blood that leads to painful inflammation in joints. It was first identified by Egyptians and was known as the "Disease of Kings" due to its association with rich diets and alcohol consumption. Gout occurs when uric acid crystallizes and deposits in joints, tendons and surrounding tissues, causing sudden and severe attacks of pain, swelling and redness in the joints. Diagnosis involves physical examination of affected joints along with laboratory tests of serum uric acid levels and microscopic examination of synovial fluid to detect urate crystals. Treatment focuses on reducing uric acid production through medications and dietary changes to limit purine intake and prevent future gout
This document provides information about the sales administrator job role, including typical duties, qualifications, and templates for writing a job description. It discusses key responsibilities like processing orders, updating customer information, and assisting the sales team. The job requires a bachelor's degree, 1-3 years of related work experience, proficiency with Microsoft Office, and experience using customer relationship management systems. The document also provides resources for career development, including ebooks, interview questions, and tips for writing effective job descriptions and negotiating salary.
The document summarizes lung ventilation in different reptile groups. It states that while most reptiles rely solely on lung ventilation, lizards lack a diaphragm and instead use chest muscles. Some lizard species can also use throat muscles in a process called buccal pumping to force air into their lungs. In contrast, crocodilians have a muscular diaphragm similar to mammals that pulls the pelvis back to allow lung expansion during breathing.
Galactosemia is a rare genetic metabolic disorder caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, which is necessary for galactose metabolism. There are three main types depending on the specific enzyme deficiency. It is inherited in an autosomal recessive pattern and causes an inability to properly break down and use the sugar galactose. If left untreated, it can cause serious issues such as liver damage, cataracts, intellectual disabilities and more. Treatment involves a strict lifelong galactose-restricted diet.
Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.When you have Fabry disease, a certain type of fatty substance builds up in your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
This document outlines the topics covered in a lecture on prostaglandins. The lecture will discuss an overview of prostaglandins, the different types of prostaglandins, their biosynthesis from arachidonic acid, inhibition of their synthesis, their biochemical actions including effects on blood pressure, inflammation, reproduction, and more. The lecture will also cover the biomedical applications of prostaglandins such as induction of labor and treatment of peptic ulcers.
The document summarizes the regulation of glycogen metabolism. Key points include:
- Glycogen synthesis (glycogenesis) and breakdown (glycogenolysis) are reciprocally regulated through phosphorylation/dephosphorylation of glycogen synthase and glycogen phosphorylase enzymes by hormones like insulin and glucagon.
- Insulin promotes glycogenesis by stimulating dephosphorylation while glucagon promotes glycogenolysis by stimulating phosphorylation via the cAMP pathway.
- Regulation allows the storage of glucose as glycogen when blood glucose is high and the release of glucose from glycogen when blood glucose is low to maintain homeostasis.
This document summarizes the key characteristics of tunicates (urochordates). It describes their habitat and habits, physical features, organ systems, life cycles, classification, and major orders. Tunicates are exclusively marine animals found around the world in oceans and seas. They can be solitary, colonial, or form aggregates. Their adult bodies are sac-like and lack segments or appendages.
Pomps disease | genetic disorder |neuromuscular disease |GAA disorderNEHA MALIK
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
What Is Fetal Alcohol Syndrome?
1) When a pregnant person drinks alcohol, some of that alcohol easily passes across the placenta to the fetus.
2) People with this condition may have problems with their vision, hearing, memory, attention span, and abilities to learn and communicate.
3) You can prevent fetal alcohol syndrome by avoiding alcohol during pregnancy.
Mental retardation, also known as intellectual disability, is a developmental disability characterized by limitations in intellectual functioning (IQ under 70-75) and adaptive behaviors that are diagnosed before age 18. It occurs in approximately 2-3% of the population and can be caused by genetic, prenatal, childhood, and environmental factors. Mental retardation is classified by severity into four categories: mild, moderate, severe, and profound. Treatment focuses on education, life skills training, supportive living, and family therapy.
This document provides information on intellectual disability (ID), including definitions, levels of severity, comorbid disorders, risk factors, causes, and treatment with psychotropic medications. Key points include:
- ID is defined by deficits in both IQ (70 or below) and adaptive functioning. It ranges from mild to profound depending on IQ scores.
- The most common causes are Down syndrome, Fragile X syndrome, and fetal alcohol syndrome, together accounting for 30% of cases.
- Risk factors include heredity, early embryonic alterations, environmental influences, and pregnancy/birth complications.
- Common comorbid disorders are ADHD, mood disorders, and autism spectrum disorders. Stimulants and
PowerPoint presentation regarding many facets of Fetal Alcohol Spectrum Disorder. Feel free to share this with anyone who would benefit from this information. Some of the information is quite shocking. Included parenting and teaching strategies for those responsible for caring for a child with FASD.
Fetal Alcohol Syndrome and Characteristics PowerpointShantrellSam1
Fetal Alcohol Syndrome (FAS) is caused by a woman drinking alcohol during pregnancy. It is completely preventable but is also the leading cause of preventable mental retardation. FAS can cause growth delays, brain abnormalities, and facial features like a smooth philtrum and small eye openings. Children with FAS often experience developmental delays and need lifelong support services. Improving awareness of the dangers of drinking during pregnancy and consistency in diagnosis can help improve outcomes for children with FAS.
This document discusses Fetal Alcohol Spectrum Disorder (FASD). It begins by defining FASD and its subcategories (Fetal Alcohol Syndrome, Partial FAS, and Alcohol Related Neurodevelopmental Disorder). It then describes the primary disabilities caused by prenatal alcohol exposure, which include impaired learning and memory, behavioral issues, and sensory processing problems. It notes that secondary disabilities like disrupted education and trouble with the law can result from a person's primary disabilities. The document provides extensive details on assessing and diagnosing individuals for FASD.
Fas dbasics short version2 2010-warning-anne 2010maureenghali
The document discusses fetal alcohol spectrum disorders (FASD), which refers to the range of effects that can occur in individuals whose mothers drank alcohol during pregnancy. Key points include:
- FASD is 100% preventable but can affect up to 1 in 100 live births.
- The sole cause is prenatal alcohol exposure. Even small amounts can be harmful.
- Individuals with FASD may experience physical, cognitive, and behavioral impairments that last a lifetime, such as lower IQ and adaptive functioning. Early diagnosis and stable home environments can help reduce risks.
How much do we really understand about Schizophrenia and to what extent is so...Pırıl Erel
This essay analyses what the mental disorder Schizophrenia (SZ) is, examining in detail medical research such as; symptoms and behaviour of patients, how to identify this mental disorder what type of treatment is available. Furthermore it will explore society’s behaviour towards this disorder and scrutinising the question ‘To what extent are we responsible for the nurture and care of vulnerable individuals?’
This document discusses the etiology and treatment of psychiatric disorders in children. It covers prenatal causes like infections, radiation, and nutrition; perinatal causes such as prematurity and birth complications; and postnatal causes including illnesses, injuries, and psychosocial factors. Specific disorders discussed include depression, attention deficit hyperactivity disorder (ADHD), and anxiety disorders. Treatment involves therapy, medication, and addressing environmental stressors through family support and education programs. The causes of these disorders are thought to involve genetic, biological, and environmental factors interacting together.
This document discusses pharmacological therapies for individuals with fetal alcohol spectrum disorder (FASD). It notes that there is little research on psychotropic medications for FASD since FASD is rarely considered by physicians prescribing medications. The document outlines various mental health problems common in individuals with FASD, such as ADHD, depression, anxiety, bipolar disorder, and psychoses. It discusses challenges in treating these conditions, including issues with medication adherence and co-morbid diagnoses. The document provides details on various medication classes and their effectiveness for different symptoms, noting stimulants may worsen attention problems for some with FASD. It stresses the importance of an early FASD diagnosis to help guide appropriate medication treatment.
The document discusses research on the effects of prenatal alcohol exposure on brain structure and cognitive functions. It finds that alcohol exposure is linked to reductions in certain brain regions like the parietal lobes and abnormalities in structures like the corpus callosum. Prenatal alcohol exposure is also associated with cognitive deficits in areas like learning, memory, and attention. Neuroimaging techniques show differences in brain activity patterns in individuals with prenatal alcohol exposure. Further research on animal models aims to better understand the behavioral and neural mechanisms and implications for prevention and treatment.
Please enjoy Brain Health Bulletin #10! Please feel free to forward this to anyone who may find benefit in receiving it! The Brain Health Bulletin is designed to be your quick reference to the latest information about brain health, dementia research, technology, cultural awareness for effective, inclusive, and compassionate dementia treatment, care partner tools, and more!
Be sure to check out our new podcast called The Resilient Caregiver at The Resilient Caregiver: Empowering Those Who Serve People Diagnosed with Dementia • A podcast on Anchor
The document summarizes the generally accepted causes and origins of schizophrenia according to experts. It states that schizophrenia is believed to be caused by both genetic and environmental factors. Genetic vulnerabilities can interact with prenatal and childhood environmental exposures like social stress or drug abuse to increase the risk of developing the disorder. Brain abnormalities are also thought to play a role, including imbalances in neurotransmitters like dopamine and differences in brain structure and activity levels in areas involved in reasoning and decision making. More research is still needed to fully explain how schizophrenia develops.
Reply Prompt Reply to 2 others by offering 1 new piece of informati.docxmandygoatesxio0
Reply Prompt: Reply to 2 others by offering 1 new piece of information to add to their discussion of the different disorders
Prompt 1:
The two neurological conditions that I would like to discuss are Fetal Alcohol Syndrome and Down Syndrome. Both of these conditions occur in development and affect development as well. Both also lead to mental retardation, which Felder defines as a disability characterized by significant limitations, both in intellectual functioning and in adaptive behavior involving conceptual, social, and practical adaptive skills
(Feldman, 2011, p.308)
. In terms of Fetal Alcohol Syndrome, it is a neurological condition that can occur in the pregnancy stage of development and affect the child’s mental capacity. Felder defines this condition as a disorder that is caused by the pregnant mother consuming substantial quantities of alcohol during pregnancy, potentially resulting in mental retardation and delayed growth in the child
(Feldman, 2011, p.76)
. This is a result of neurons in the developmental stages of the infant’s brain being destroyed by the mother’s overconsumption of alcohol. This is even true for mothers who consume smaller amounts of alcohol. Some of these children eventually develop FAE or Fetal Alcohol Effects. Feldman defines this is “a condition in which display some, though not all, of the problems of those fetal alcohol syndrome”
(Feldman, 2011, p.76).
As it relates to Down Syndrome, It is recognized as the most frequent cause of mental retardation. Felder defines this neurological disorder as one produced by the presence of an extra chromosome on the 21
st
pair; once referred to as mongolism. It is common in a much greater rate in women who are notably younger or notably older respectively. It occurs in about 1 out of every 500 births
(Feldman, 2011, p.50). As mentioned with FAE, they are both a byproduct of damaged neurons. As stated by Dr. Gary Sibcy, we are all born with billions of neurons in the brain (Sibcy, 2014). Neurons are the metaphorical pistons to the brain—as they would be to the engine of a car. Neuronsthat fire together, wire together. Those neurons are essential for what Dr. Sibcy describes as “mature development” or “vertical integration” of the brain. This is where the brain is regulated from top to bottom and from the left to the right hemisphere (Sibcy, 2014). As it relates to the case of a child’s development being impacted by FAE, the right hemisphere, which controls the emotional, visual and spatial development, can be totally destroyed, thus rendering a child retarded.
As it relates to what research suggests about the effects of the spiritual disciplines on neurobiology, Katya Rubia, of the Institute of Psychiatry, Department of Child and Adolescent Psychiatry, states that the clinical application of meditation effects is still very much in its infancy (Rubia, 2009). However, there is growing evidence indicating that the spiritual discipline of meditation has shown po.
Neurobehavioral disorder associated with prenatal alcohol exposureBARRY STANLEY 2 fasd
Children and adolescents affected by prenatal exposure to alcohol who have brain damage that is manifested in functional impairments of neurocognition, self-regulation, and adaptive functioning may most appropriately be diagnosed with neurobehavioral disorder associated with prenatal exposure. This Special Article outlines clinical implications and guidelines for pediatric medical home clinicians to identify, diagnose, and refer children regarding neurobehavioral disorder associated with prenatal exposure. Emphasis is given to reported or observable behaviors that can be identified as part of care in
pediatric medical homes, differential diagnosis, and potential comorbidities. In addition, brief guidance is provided on the management of affected children in the pediatric medical home. Finally, suggestions are given for obtaining prenatal history of in utero exposure to alcohol for the pediatric patient.
Fetal alcohol spectrum disorders: an overview from the glia perspectiveBARRY STANLEY 2 fasd
Abstract
Alcohol consumption during pregnancy can produce a variety of central nervous system (CNS) abnormalities in the offspring resulting in a broad spectrum of cognitive and behavioral impairments that constitute the most severe and long-lasting effects observed in fetal alcohol spectrum disorders (FASD). Alcohol-induced abnormalities in glial cells have been suspected of contributing to the adverse effects of alcohol on the developing brain for several years, although much research still needs to be done to causally link the effects of alcohol on specific brain structures and behavior to alterations in glial cell development and function. Damage to radial glia due to prenatal alcohol exposure may underlie observations of abnormal neuronal and glial migration in humans with Fetal Alcohol Syndrome (FAS), as well as primate and rodent models of FAS. A reduction in cell number and altered
development has been reported for several glial cell types in animal models of FAS. In utero alcohol exposure can cause microencephaly when alcohol exposure occurs during the brain growth spurt a period characterized by rapid astrocyte proliferation and maturation; since astrocytes are the most abundant cells in the brain, microenchephaly may be caused by reduced astrocyte proliferation or survival, as observed in in vitro and in vivo studies. Delayed oligodendrocyte development and increased oligodendrocyte precursor apoptosis has also been reported in experimental models of FASD,
which may be linked to altered myelination/white matter integrity found in FASD children. Children with FAS exhibit hypoplasia of the corpus callosum and anterior commissure, two areas requiring guidance from glial cells and proper maturation of oligodendrocytes. Finally, developmental alcohol exposure disrupts microglial function and induces microglial apoptosis; given the role of microglia in synaptic pruning during brain development, the effects of alcohol on microglia may be involved in the abnormal brain plasticity reported in FASD. The consequences of prenatal alcohol exposure on glial
cells, including radial glia and other transient glial structures present in the developing brain, astrocytes, oligodendrocytes and their precursors, and microglia contributes to abnormal neuronal development, reduced neuron survival and disrupted brain architecture and connectivity. This review highlights the CNS structural abnormalities caused by in utero alcohol exposure and outlines which abnormalities are likely mediated by alcohol effects on glial cell development and function.
Keywords: astrocyte, microglia, oligodendrocyte, fetal alcohol syndrome, fetal alcohol spectrum disorder.
This document discusses several topics related to psychopharmacology in children and adolescents. It notes that there has been a large increase in the prescription of psychiatric medications for children in recent decades. It outlines some of the ethical issues and debates surrounding the diagnosis and treatment of mental health conditions in children, including concerns about overdiagnosis and the influence of parents and legal/business factors. The document also provides information on several classes of psychiatric medications commonly prescribed to children, including antidepressants, stimulants for ADHD, atypical antipsychotics, and mood stabilizers for bipolar disorder. It discusses the mechanisms of action, efficacy evidence, side effects and special considerations for use of these medications in developing populations.
Fetal Alcohol Syndrome is caused by a mother's consumption of alcohol during pregnancy. It can result in permanent birth defects and is one of the most common causes of mental retardation. The diagnosis requires confirmed prenatal alcohol exposure as well as characteristic facial features, growth problems, and central nervous system abnormalities. While any alcohol use during pregnancy can potentially harm the fetus, the risks are greater with frequent or binge drinking. There is no known safe amount of alcohol, and effects can range from subtle learning disabilities to full Fetal Alcohol Syndrome.
The development of human brain will be completed only by the age of 25 yrs. The centre for reasoning and higher level of thinking are the last to mature. The persons of age below 25 exhibit unpredictable and risky behaviour only because of the immature brain.
1) The document discusses Attention Deficit Hyperactivity Disorder (ADHD) from a homeopathic perspective, covering etiology, pathogenesis, clinical features, diagnosis and case studies.
2) It suggests that factors like genetic predisposition, prenatal influences like stress, smoking and ultrasound exposure, and birth trauma can predispose children to developing ADHD.
3) Two case studies are presented where homeopathic remedies Thyroidinum and Arnica Montana helped address the symptoms of ADHD in children based on their medical histories and constitutional make-ups.
Similar to Understanding the brain final project - fas (20)
2. A number of years ago, our neighbours elected to take care
of a foster child.
The young boy was prone to screaming fits, making
inappropriate comments and had the habit of repeating the
same question over and over, even when his question was
answered.
I was told that his birth mother was an alcoholic and he had
fetal alcohol syndrome (FAS). It was mentioned that the FAS
left “holes”in his brain and this affected his behaviour.
This presentation will examine FAS and its effect on the
brain.
3. Alcohol is a toxin to the developing brains of fetuses.
The fetus brain is the most sensitive organ to alcohol damage.
Fetal Alcohol Spectrum Disorders (FASD) is a condition which
describes a continuum of permanent birth defects caused by
maternal consumption of alcohol during pregnancy.
Fetal Alcohol Syndrome (FAS) and Alcohol Related
Neurodevelopmental Disorder (ARND) represent different
degrees of FASD.
FAS is the most severe and is characterized by growth deficiency,
central nervous system disorders, and a pattern of distinct facial
features.
4. 1. In the first trimester, alcohol interferes with the migration
and organization of brain cells, which can create structural
deformities or deficits in the brain.
[Journal of Pediatrics, 92(1):64-67]
2. Heavy drinking during the second trimester, (the 10th to 20th
week after conception), causes more clinical features of FAS
than at other times during pregnancy.
[Early-Human-Development; 1983 Jul Vol. 8(2) 99-111]
3. During the third trimester, the hippocampus is significantly
affected.This leads to problems with encoding visual and
auditory information (reading and math).
[Neurotoxicology And Teratology, 13:357-367, 1991]
From the College of Cognitive and Linguistic Sciences at Brown University, Providence, RI.
5. Palpebral Fissures: Eyelid openings Microcephaly: Small head
Philtrum: Groove on upper lip Epicanthal Folds: Upper eyelid folds
Vermillion: Upper lip Micrognathia: Undersized jaw
FAS facial features: smooth philtrum, thin vermilion and small
palpebral fissures
6. The brain of an FAS-affected individual has an overall
smaller and less-developed brain.
The FAS-affected brain has fewer gyri and sulci and
appears smoother.
In some brain scans of FAS-affected individual show
actual holes in the brain.
Alcohol exposure appears to damage some parts of the
brain, while leaving other parts unaffected.
Not all damage from alcohol is seen on brain scans, as
the lesions can be too small to be detected with current
technology.
(Examples on next 3 slides)
8. The cerebrum (telencephalon) is ~6% smaller for an
individual who has had prenatal exposure to alcohol (PEA)
and ~13% smaller for someone with FAS.
The cerebellum is ~4% smaller for PEA and ~17% for FAS.
9. Gray Matter = Density Increase White Matter = Density Decrease
Sowell et al., 2001
• White matter (contains the axons that connect nerve cells with each
other) decreases in density.
• Gray matter (contains the nerve cell bodies) increases in density.
• The parietal lobe (involved in visual-spatial processing and in the
integration of sensory information) is especially susceptible to
alcohol: Its white matter is significantly reduced and its gray matter
density is significantly increased.
10. Frontal Lobes - This area controls impulses and
judgment.The most obvious damage to the brain
occurs in the prefrontal cortex, which controls the
Executive Functions.
Hippocampus - Plays a fundamental role in
memory, learning, and emotion.
Hypothalamus - Controls appetite, emotions,
temperature, and pain sensation.
- Location in the brain
11. Corpus Callosum - Passes information from
the left brain (rules, logic) to the right brain
(impulse, feelings) and vice versa.The Corpus
Callosum in an individual with FAS might be
smaller than normal, and in some cases it is
almost nonexistent.
Cerebellum - Controls coordination and
movement, behavior and memory.
- Location in the brain
12. Basal Ganglia - Affects spatial memory and
behaviors like perseveration and the inability to
switch modes, work toward goals, and predict
behavioral outcomes, and the perception of time.
Amygdala –Central part of emotional circuitry,
senses danger, fear and anxiety; plays major role
in recognizing faces and facial expressions,
social behavior, aggression, and emotional
memory; critical for stimulus-reinforcement
association learning.
The hypothalamus, amygdala, and hippocampus are part of the limbic
system, which regulates emotions, social and sexual behavior, the
“fight or flight”response, and empathy, all areas of concern for
individuals with prenatal alcohol exposure.
- Location in the brain
13. Normally developing “brain
circuits” (symbolically shown
as the six arrows on the left)
Drinking during pregnancy
causes the “brain circuits”
to become pruned, garbled,
impaired or missing.www.fasdwheel.com
15. Socially inappropriate behavior (as if inebriated)
Inability to control sexual impulses,
esp. in social situations
Inability to learn from past actions
Storing and/or retrieving information
Diminished sense of remorse, inability
to understand others
Needs frequent cues, requires policing by others
Needs to talk to self out loud; needs feedback
Moody and exaggerated roller-coaster emotions
Inability to weigh pros and cons when making
decisions Artist: Moriz89
16. Mental health problems prevalent among 90% of the group;
Disrupted schooling for 60% of the clients (suspension or
expulsion from school or dropping out of school)
Trouble with the law by ~ 50% of the group (having been in
trouble with authorities, charged, or convicted of a crime)
Confinement was experienced by about 50% of the clients;
(includes treatment for mental health problems, alcohol
/drug problems or incarceration for a crime)
Inappropriate sexual behavior noted by 50% of the group;
Alcohol/drug problems registered by ~30% of the clients;
Problems with employment experienced by 80% of group.
17. An FAS-affected individual often looks
normal, but the permanent brain injury
results in unexpected, inconsistent, and
unpredictable behaviors.
Too frequently it is assumed that someone with FASD is not trying
hard enough or does not want to cooperate.These children
disproportionately receive diagnoses of
• Attention Deficit Hyperactivity Disorder (ADHD),
• Oppositional Defiant Disorder,
• Pervasive Developmental Disorder, or
• Conduct Disorder (Coles, 2001).
It is the brain damage that is creating problems and their
behavior problems is organic in origin.To better understand FAS
behavior issues, shift the perspective from thinking the child
“won't”to “can't”.
18. In 1987, fetal alcohol exposure was the leading
known cause of intellectual disability in the
Western world
FAS prevalence in the US and Europe is
estimated to be between 0.2-2 in every 1,000 live
births
The lifetime medical and social costs of FAS are
about US$800,000 per child
Surveys in the US report that 10-15% of pregnant
women having recently drunk alcohol and up to
30% drink alcohol sometime during pregnancy
Wikipedia
19. There is no cure for FAS, because the
central nervous system damage creates a
permanent disability, but treatment is
possible.
As the damage can vary
from individual to
individual, there is no
one treatment type that
works for everyone.
Photo: www.iamsleep.com
20. The only certain way to prevent FAS is to simply
avoid drinking alcohol during pregnancy.
Photo: www.mommyish.com
In the United States, the Surgeon
General recommended in 1981,
and again in 2005, that women
abstain from alcohol use while
pregnant or while planning a
pregnancy, the latter to avoid
damage in the earliest stages of
a pregnancy, as the woman may
not be aware that she has
conceived.
21. Alaska Republican State Senator Pete Kelly
proposed putting
pregnancy tests in
bars as a solution to
the state’s fetal alcohol
syndrome epidemic.
www.msnbc.com/the-last-word/birth-control-irresponsible-people
22. Fetal Alcohol Syndrome is a preventable medical
condition that is caused by the excessive consumption
of alcohol by pregnant women.
The resulting brain damage affects many different
parts of the brain and resulting in children that:
Have attachment issues,
Display inappropriate sexual behaviours,
Show poor judgment,
Have difficulty controlling their impulses,
Are emotionally immature, and
Need frequent reminders of rules.
As a result, many will require the protection of close
supervision for the rest of their lives.