Cardiomyopathy in fabry disease
Download as PPTX, PDF1 like215 views
Mr. B was diagnosed with Fabry disease at age 77 after genetic testing revealed a mutation on the GLA gene. He had a history of childhood asthma and abnormal EKGs showing left ventricular hypertrophy. While he declined enzyme replacement therapy initially due to mild symptoms, he started ERT in 2014 when he developed severe cardiac symptoms including dyspnea, fatigue, and arrhythmia. Within 3 months of starting ERT, his cardiac and other Fabry symptoms improved significantly. A family history revealed his mother died of congestive heart failure and both his mother and brother had left ventricular hypertrophy and received ICDs. Genetic testing showed one of his daughters also has Fabry disease.
1 of 4
Download to read offline
Recommended
Genetics of Congenital Heart Disease
Genetics of Congenital Heart DiseaseLaxmi Ghimire
油
This is presentation on the genetics of congenital heart diseases for any students interested in pediatric cardiology.Revis達o has 2011
Revis達o has 2011gisa_legal
油
Heart murmurs are common in children but may indicate structural heart disease. A thorough history and physical exam is necessary to evaluate murmurs. Historical elements suggesting pathology include family history of heart conditions, genetic disorders, or prenatal exposures. The exam should assess vital signs, exercise capacity, signs of heart failure, and characterize any murmurs heard. Red flags requiring pediatric cardiology referral include holosystolic, diastolic, or loud murmurs; abnormal heart sounds; or physical findings suggesting heart disease. Echocardiography can definitively diagnose structural issues.Case presentation-Chronic Myeloid Leukemia
Case presentation-Chronic Myeloid LeukemiaUniversity of Papua New Guinea
油
This document summarizes a medical case presentation involving a 25-year-old male patient who presented with dizziness, fatigue, and abdominal swelling. On examination, the patient was pale and wasted with massive splenomegaly. Laboratory tests found normocytic anemia and leukocytosis. A peripheral blood smear showed dysplastic granulocytes suggestive of chronic myeloid leukemia (CML). The patient was referred to the oncology unit for further treatment of CML.OCR GCSE Biology B1 Gateway - concept maps and summaries
OCR GCSE Biology B1 Gateway - concept maps and summariesdhmcmillan
油
This document discusses genetic variation and its causes. It explains that genetic variation is caused by gamete formation which results in male and female sex cells containing only 23 chromosomes that are all different. It also notes that fertilization, when the gametes from male and female combine randomly, leads to the 46 chromosomes of a new baby being formed randomly. Additionally, it states that mutations from spontaneous incorrect DNA division or environmental factors can cause genetic variation.Cardiac sarcoidosis
Cardiac sarcoidosisPiyush Bhardwaj
油
This document discusses cardiac sarcoidosis, which can present with vague symptoms like syncope, palpitations, or heart failure. Genetic factors may increase risk. Screening tests lack sensitivity and specificity. Complications include conduction abnormalities, arrhythmias like atrial fibrillation, and heart failure. Treatment involves immunosuppression with steroids. Prognosis depends on left ventricular function, with poorer outcomes when EF is below 30%.Digeorge syndrome
Digeorge syndromeHarshadKhan1
油
Elizabeth was born with low birth weight and dysmorphic features. She developed feeding issues, seizures, and hypocalcemia due to low parathyroid hormone levels. Genetic testing revealed a 22q11.2 deletion consistent with DiGeorge syndrome. She had low T cell counts and poor response to mitogens, indicating complete DiGeorge syndrome. At 6 months she received a thymus transplant, developing T cells and antibody responses over time. However, she later developed immune thrombocytopenia successfully treated with IV gamma globulin.Sudden cardiac death in structurally normal hearts
Sudden cardiac death in structurally normal heartsYasmeen Kamal
油
Potential causes of sudden cardiac death without structural heart disease include long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, early repolarization syndrome, idiopathic ventricular fibrillation, commotio cordis, and familial sudden cardiac death. These conditions are often genetic and can result in fatal arrhythmias. Evaluation of survivors and families of victims is important to determine the cause and provide appropriate treatment such as an implantable cardioverter-defibrillator.Nm
Nmguest4540e4
油
The document outlines various controllable and uncontrollable risk factors for cerebrovascular disease. Controllable risks include smoking, hypertension, artery disease, history of transient ischemic attacks, diabetes, high cholesterol, physical inactivity, obesity, pregnancy, alcohol/drug use, and brain injury. Uncontrollable risks include age, gender, heredity, race, and prior stroke or heart attack. Specific risk factors discussed further include hypertension, heart disease, transient ischemic attacks, hematocrit/fibrinogen levels, sickle cell disease, lifestyle factors like age, smoking, genetics, and being male, diabetes mellitus, migraines, and retinal emboli.Review Of Alport Syndrome Case.
Review Of Alport Syndrome Case.AR Muhamad Na'im
油
This case report describes a 17-year-old Malay student diagnosed with Alport syndrome. Alport syndrome is a rare inherited disorder that affects the basement membranes in the kidneys, eyes, and ears, caused by mutations in genes encoding type IV collagen. This patient presented with symptomatic anemia, respiratory infection, a family history of chronic kidney disease and deafness in his brother. He was diagnosed with Alport syndrome last year after developing kidney failure and hearing loss, and now receives hemodialysis. Alport syndrome can be inherited in X-linked, autosomal recessive, or dominant patterns and causes kidney disease and sensorineural deafness.Cardiovascular genetics
Cardiovascular geneticsToufiqur Rahman
油
Cardiovascular genetics, Mendelian disorders, Marfans syndrome, Dilated Cardiomyopathy, Hypertrophic cardiomyopathy, Long Qt syndrome, Brugada syndrome, clopidogrel resistance Images of Vascular Medicine Symposia - The CRUDEM Foundation
Images of Vascular Medicine Symposia - The CRUDEM FoundationThe CRUDEM Foundation
油
A 36-year-old male on ACE inhibitors presents with a sore throat and difficulty swallowing, likely experiencing uvular angioedema as a rare but potentially fatal side effect of ACE inhibitors. A 50-year-old woman presents with shortness of breath and fatigue, and her ECG demonstrates a malignant pericardial effusion. A 40-year-old male with a heart murmur presents with fever, weight loss, and chills, exhibiting signs of infective endocarditis.Gene abnormalities
Gene abnormalitiesNur Hidayah
油
Abnormalities and genetic disorders can be caused by hereditary factors including autosomal inheritance, X-linked inheritance, and defective chromosomes. They can also be produced by harmful genes or an uneven number of chromosomes. Gene mutations can be inherited from parents or acquired, and hereditary mutations exist in virtually all body cells and can be passed down between generations. Some examples of genetic disorders discussed include sickle cell anemia, hemophilia, Huntington's disease, phenylketonuria (PKU), Tay-Sachs disease, and diabetes.Von Willebrand Disease
Von Willebrand DiseaseAustin Fridrich
油
A newborn boy was experiencing nosebleeds, blood in his urine, and easy bruising. Initial tests were normal except for slightly viscous blood. A doctor suspected von Willebrand disease (VWD) and tested for the von Willebrand factor (VWF). The VWF test was negative, indicating a defect in the VWF protein. VWD is caused by defects in the VWF protein, which is important for platelet binding and clotting. It affects up to 1% of the population and treatment involves drugs like desmopressin to stimulate VWF release.Neuro radiology central press
Neuro radiology central pressBagadi Suneel
油
A 40-year-old male presented with headache, weakness in his right side, dizziness, and unsteady gait. On examination, he had increased tone and reduced strength on his right side with abnormal reflexes. Imaging showed edema in parietal and occipital regions consistent with posterior reversible encephalopathy syndrome (PRES). While PRES typically involves the parietal and occipital lobes, this patient presented with involvement of deeper structures like the basal ganglia and brainstem, known as the central variant of PRES.Hemophilia
Hemophiliafitango
油
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.Brugada syndrome
Brugada syndromeYogesh Shilimkar
油
Brugada Syndrome is a genetic cardiac condition characterized by an abnormal ECG pattern and increased risk of sudden cardiac death. It is caused by mutations that result in loss of function of cardiac ion channels, most commonly sodium channels encoded by SCN5A. The ECG typically shows ST segment elevation in leads V1-V3. Brugada Syndrome presents variably from asymptomatic to sudden cardiac death, usually during sleep. Drug challenges may help diagnose when the ECG is unclear. An ICD is recommended for those with symptoms or inducible arrhythmias on electrophysiological study to prevent sudden death.ERECTILE DYSFUNCTION
ERECTILE DYSFUNCTIONbausher willayat
油
Erectile dysfunction (ED) is the inability to achieve or maintain an erection sufficient for sexual performance. At least 12 million U.S. men ages 40 to 79 have ED. Metabolic syndrome is associated with ED through mechanisms like low testosterone and increased inflammatory cytokines from adipocytes. Diabetes and cardiovascular disease (CVD) are also strongly linked to ED, as ED often occurs years before coronary artery disease and peripheral vascular disease and is a predictive factor for developing CVD. Evaluation of ED involves history, physical exam, lab tests like glucose/lipids/TSH, and potentially morning total testosterone in some cases. Treatment options include phosphodiesterase-5 inhibitors, alprostadil injections or intraureVon Willebrand Disease Type III
Von Willebrand Disease Type IIIANUSHA RACHA
油
This document presents a case study of a 11-year old female patient with Von Willebrand Disease Type III who presented with epistaxis and bleeding from the scalp due to a head injury. Von Willebrand Disease is a genetic bleeding disorder caused by a deficiency of the Von Willebrand Factor, a clotting protein. The patient's lab work showed low levels of Von Willebrand Factor and Factor VIII. She was diagnosed with Von Willebrand Disease Type III and treated with tranexamic acid to reduce bleeding and Von Willebrand Factor replacement therapy.Von Willebrand Disease
Von Willebrand DiseaseLawchak Mhamad
油
Introduction of von Willebrand disease
Types of VWD
Symptoms of VWD
Diagnosis of VWD
Treatment of VWD
Congenital structural heart defects.
Congenital structural heart defects.Mohemet Khati
油
Seminar on classification of Congenital structural heart defects, presented by: Dr. Mohammed Hamadameen at Rapareen teaching hospital for board students.TOp secrets in pediatric 1
TOp secrets in pediatric 1Abeer Khalifah
油
After iron supplementation for iron deficiency anemia, the reticulocyte count should double in 1 to 2 weeks and hemoglobin should increase by 1 g/dL in 2 to 4 weeks. The most common reason for persistence of iron deficiency anemia is poor compliance with supplementation. While leukemias constitute the most common group of pediatric cancer diagnoses overall, neuroblastomas are the most commonly occurring cancer in children <1 year of age. The most common worldwide cause of chronic gastrointestinal (GI) blood loss is hookworm infection, which is often associated with iron deficiency anemia.The Physiology of Central Nervous System - Neurotransmitters and Neuromodulators
The Physiology of Central Nervous System - Neurotransmitters and NeuromodulatorsMedicoseAcademics
油
Learning Objectives:
1. Describe the characteristics of the transmitter substances
2. Classify the transmitter substances
3. Appreciate the actions initiated by binding of a neurotransmitter to an ionotropic (ligand-gated) versus metabotropic (G-protein-coupled, GPCR) receptor
4. Recognize the major distribution of the various types of receptors that mediate the functional responses of the common neurotransmitters
5. Provide examples of neurotransmitter dysfunction which contributes to some neuropathological disordersThe Physiology of Central Nervous System - Synapse
The Physiology of Central Nervous System - SynapseMedicoseAcademics
油
Learning Objectives:
1. Define and classify synapses
2. Distinguish between electrical and chemical transmissions at synapses
3. Describe excitatory and inhibitory postsynaptic potentials
4. Outline the ionic fluxes that underlie them
5. Explain how the excitatory and inhibitory potentials interact to generate action potentials
6. Recognise the functions of dendrites for exciting
7. Discuss the properties of synapses
8. Describe the effects of hypoxia, acidosis and alkalosis on synaptic transmission
9. Describe the effects of caffeine, tetanus and botulinum toxin, strychnine and anesthetics on the synaptic transmissionBiophysics Thermodynamics 1 Chapter Notes
Biophysics Thermodynamics 1 Chapter NotesPKLI-Institute of Nursing and Allied Health Sciences Lahore , Pakistan.
油
Biophysics Unit 01: Thermodynamics
This unit introduces the fundamental principles of thermodynamics and their application in biological and physiological systems. It explores how energy is exchanged and transformed in the human body, forming the basis of many critical clinical processes.
Key Concepts Covered:
System & Surroundings: Open, closed, and isolated systems relevant to physiological environments (e.g., respiratory system as an open system).
Zeroth Law: Basis for clinical thermometry and body temperature regulation.
First Law of Thermodynamics (Law of Energy Conservation): Application in calorimetry, metabolic rate calculation, and ATP energy balance.
Second Law of Thermodynamics: Directionality of biological processes, entropy, and energy efficiency in muscle contraction and enzymatic activity.
Third Law: Conceptual relevance in absolute zero and physiological limits.
Clinical Applications:
Energy transformations during cellular respiration
Thermal regulation and homeostasis in patients
Bioenergetics in critical care (e.g., post-operative energy needs, fever metabolism)
Use of thermodynamic principles in medical devices (ventilators, incubators, dialysis machines)NURSING MANAGEMENT OF PATIENT WITH KIDNEY AND URINARY SYSTEM DISORDERS
NURSING MANAGEMENT OF PATIENT WITH KIDNEY AND URINARY SYSTEM DISORDERSRekhanjali Gupta
油
Urethritis is an inflammation of the urethra, the tube that carries urine from the bladder out of the body. It's often caused by a bacterial infection, commonly a sexually transmitted infection (STI) like gonorrhea or chlamydia. Pain or burning during urination is a key symptom, along with other symptoms like urethral discharge and the frequent need油to油urinate.Emerging Therapies in Ovarian Cancer.pptx
Emerging Therapies in Ovarian Cancer.pptxNEIGRIHMS, SHILLONG
油
New Drug Development in the Treatment of Ovarian Cancer: Future Perspectives
Ovarian cancer remains a major challenge in gynecologic oncology due to its late diagnosis, high relapse rate, and limited long-term treatment success. While surgery and platinum-based chemotherapy remain the mainstays of therapy, advances in molecular biology and precision medicine are transforming the treatment landscape. The future of ovarian cancer management lies in the development of targeted therapies, immunotherapy, and innovative drug delivery systems, aiming for personalized and durable outcomes.
PARP inhibitors have been among the most significant breakthroughs, particularly in patients with BRCA mutations or homologous recombination deficiency (HRD). Agents like olaparib, niraparib, and rucaparib work by exploiting defects in DNA repair mechanisms, leading to synthetic lethality in tumor cells. Their use has expanded from treatment of recurrent disease to maintenance therapy in first-line settings. Current research focuses on overcoming resistance by combining PARP inhibitors with other agents, such as immune checkpoint inhibitors, anti-angiogenic drugs, or ATR inhibitors.
Immunotherapy has had modest results in ovarian cancer so far, likely due to the immunosuppressive tumor microenvironment. However, future strategies are exploring combinations of checkpoint inhibitors (like pembrolizumab or nivolumab) with chemotherapy, PARP inhibitors, or anti-VEGF agents to enhance tumor immunogenicity. Additionally, experimental approaches such as CAR-T cells, oncolytic viruses, and cancer vaccines are under investigation.
Angiogenesis inhibitors, such as bevacizumab, have shown clinical benefit and are approved in both first-line and recurrent disease settings. Novel anti-angiogenic agents and combination regimens aim to further exploit the tumors reliance on blood supply while improving drug delivery and immune cell access.
Emerging therapies like antibody-drug conjugates (ADCs) offer targeted cytotoxicity by linking monoclonal antibodies to chemotherapy agents. Mirvetuximab soravtansine, targeting folate receptor alpha (FR留), is a leading ADC showing promise in platinum-resistant ovarian cancer.
Epigenetic therapies are another exciting avenue. Agents that modify DNA methylation or histone acetylation may reverse chemoresistance and sensitize tumors to other treatments. Similarly, targeting hormonal pathways and metabolic dependencies (like glucose and lipid metabolism) offers potential in select subtypes.
Looking ahead, the integration of genomic profiling, biomarkers, and artificial intelligence is driving a shift toward precision oncology. Techniques like liquid biopsy allow real-time monitoring of tumor evolution and therapeutic response. Moreover, advances in nanotechnology and local drug delivery systems are improving the precision and tolerability of therapies.
In conclusion, the future of ovarian cancer treatment is bright, with a strong focus on indiPublic Health-Definition ,concept and development.pdf
Public Health-Definition ,concept and development.pdfMUSTAFA MOHAMMED
油
slides for presentation regarding Public Health
1. introduction to Biomechanics chap 1. onepptx.pptx
1. introduction to Biomechanics chap 1. onepptx.pptxBolan University of Medical and Health Sciences ,Quetta
油
The human body, move and interact with their environment, applying principles of physics and engineering. It's crucial for understanding movement, improving performance, preventing injuries, and developing treatments. By analyzing forces, motion, and energy transfer, biomechanics helps optimize training, rehabilitation, and even the design of medical devices and equipment.
Dr Aliya S.M
BUMHS , QtaAcetate mevalonate pathway (mevalonic acid pathway).pdf
Acetate mevalonate pathway (mevalonic acid pathway).pdfsamuelwadia
油
A vivid description of the acetate mevalonate pathway, a gateway for many secondary metabolites among which are volatile oils, saponins, and cardiac glycosides.
This particular document shows the origins of monoterpenes, diterpenes, sesquiterpenoids, triterpenoids and tetraterpenoids. More Related Content
What's hot (13)
Review Of Alport Syndrome Case.
Review Of Alport Syndrome Case.AR Muhamad Na'im
油
This case report describes a 17-year-old Malay student diagnosed with Alport syndrome. Alport syndrome is a rare inherited disorder that affects the basement membranes in the kidneys, eyes, and ears, caused by mutations in genes encoding type IV collagen. This patient presented with symptomatic anemia, respiratory infection, a family history of chronic kidney disease and deafness in his brother. He was diagnosed with Alport syndrome last year after developing kidney failure and hearing loss, and now receives hemodialysis. Alport syndrome can be inherited in X-linked, autosomal recessive, or dominant patterns and causes kidney disease and sensorineural deafness.Cardiovascular genetics
Cardiovascular geneticsToufiqur Rahman
油
Cardiovascular genetics, Mendelian disorders, Marfans syndrome, Dilated Cardiomyopathy, Hypertrophic cardiomyopathy, Long Qt syndrome, Brugada syndrome, clopidogrel resistance Images of Vascular Medicine Symposia - The CRUDEM Foundation
Images of Vascular Medicine Symposia - The CRUDEM FoundationThe CRUDEM Foundation
油
A 36-year-old male on ACE inhibitors presents with a sore throat and difficulty swallowing, likely experiencing uvular angioedema as a rare but potentially fatal side effect of ACE inhibitors. A 50-year-old woman presents with shortness of breath and fatigue, and her ECG demonstrates a malignant pericardial effusion. A 40-year-old male with a heart murmur presents with fever, weight loss, and chills, exhibiting signs of infective endocarditis.Gene abnormalities
Gene abnormalitiesNur Hidayah
油
Abnormalities and genetic disorders can be caused by hereditary factors including autosomal inheritance, X-linked inheritance, and defective chromosomes. They can also be produced by harmful genes or an uneven number of chromosomes. Gene mutations can be inherited from parents or acquired, and hereditary mutations exist in virtually all body cells and can be passed down between generations. Some examples of genetic disorders discussed include sickle cell anemia, hemophilia, Huntington's disease, phenylketonuria (PKU), Tay-Sachs disease, and diabetes.Von Willebrand Disease
Von Willebrand DiseaseAustin Fridrich
油
A newborn boy was experiencing nosebleeds, blood in his urine, and easy bruising. Initial tests were normal except for slightly viscous blood. A doctor suspected von Willebrand disease (VWD) and tested for the von Willebrand factor (VWF). The VWF test was negative, indicating a defect in the VWF protein. VWD is caused by defects in the VWF protein, which is important for platelet binding and clotting. It affects up to 1% of the population and treatment involves drugs like desmopressin to stimulate VWF release.Neuro radiology central press
Neuro radiology central pressBagadi Suneel
油
A 40-year-old male presented with headache, weakness in his right side, dizziness, and unsteady gait. On examination, he had increased tone and reduced strength on his right side with abnormal reflexes. Imaging showed edema in parietal and occipital regions consistent with posterior reversible encephalopathy syndrome (PRES). While PRES typically involves the parietal and occipital lobes, this patient presented with involvement of deeper structures like the basal ganglia and brainstem, known as the central variant of PRES.Hemophilia
Hemophiliafitango
油
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).
The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop
Hemophilia A is the most common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A. Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.Brugada syndrome
Brugada syndromeYogesh Shilimkar
油
Brugada Syndrome is a genetic cardiac condition characterized by an abnormal ECG pattern and increased risk of sudden cardiac death. It is caused by mutations that result in loss of function of cardiac ion channels, most commonly sodium channels encoded by SCN5A. The ECG typically shows ST segment elevation in leads V1-V3. Brugada Syndrome presents variably from asymptomatic to sudden cardiac death, usually during sleep. Drug challenges may help diagnose when the ECG is unclear. An ICD is recommended for those with symptoms or inducible arrhythmias on electrophysiological study to prevent sudden death.ERECTILE DYSFUNCTION
ERECTILE DYSFUNCTIONbausher willayat
油
Erectile dysfunction (ED) is the inability to achieve or maintain an erection sufficient for sexual performance. At least 12 million U.S. men ages 40 to 79 have ED. Metabolic syndrome is associated with ED through mechanisms like low testosterone and increased inflammatory cytokines from adipocytes. Diabetes and cardiovascular disease (CVD) are also strongly linked to ED, as ED often occurs years before coronary artery disease and peripheral vascular disease and is a predictive factor for developing CVD. Evaluation of ED involves history, physical exam, lab tests like glucose/lipids/TSH, and potentially morning total testosterone in some cases. Treatment options include phosphodiesterase-5 inhibitors, alprostadil injections or intraureVon Willebrand Disease Type III
Von Willebrand Disease Type IIIANUSHA RACHA
油
This document presents a case study of a 11-year old female patient with Von Willebrand Disease Type III who presented with epistaxis and bleeding from the scalp due to a head injury. Von Willebrand Disease is a genetic bleeding disorder caused by a deficiency of the Von Willebrand Factor, a clotting protein. The patient's lab work showed low levels of Von Willebrand Factor and Factor VIII. She was diagnosed with Von Willebrand Disease Type III and treated with tranexamic acid to reduce bleeding and Von Willebrand Factor replacement therapy.Von Willebrand Disease
Von Willebrand DiseaseLawchak Mhamad
油
Introduction of von Willebrand disease
Types of VWD
Symptoms of VWD
Diagnosis of VWD
Treatment of VWD
Congenital structural heart defects.
Congenital structural heart defects.Mohemet Khati
油
Seminar on classification of Congenital structural heart defects, presented by: Dr. Mohammed Hamadameen at Rapareen teaching hospital for board students.TOp secrets in pediatric 1
TOp secrets in pediatric 1Abeer Khalifah
油
After iron supplementation for iron deficiency anemia, the reticulocyte count should double in 1 to 2 weeks and hemoglobin should increase by 1 g/dL in 2 to 4 weeks. The most common reason for persistence of iron deficiency anemia is poor compliance with supplementation. While leukemias constitute the most common group of pediatric cancer diagnoses overall, neuroblastomas are the most commonly occurring cancer in children <1 year of age. The most common worldwide cause of chronic gastrointestinal (GI) blood loss is hookworm infection, which is often associated with iron deficiency anemia.Recently uploaded (20)
The Physiology of Central Nervous System - Neurotransmitters and Neuromodulators
The Physiology of Central Nervous System - Neurotransmitters and NeuromodulatorsMedicoseAcademics
油
Learning Objectives:
1. Describe the characteristics of the transmitter substances
2. Classify the transmitter substances
3. Appreciate the actions initiated by binding of a neurotransmitter to an ionotropic (ligand-gated) versus metabotropic (G-protein-coupled, GPCR) receptor
4. Recognize the major distribution of the various types of receptors that mediate the functional responses of the common neurotransmitters
5. Provide examples of neurotransmitter dysfunction which contributes to some neuropathological disordersThe Physiology of Central Nervous System - Synapse
The Physiology of Central Nervous System - SynapseMedicoseAcademics
油
Learning Objectives:
1. Define and classify synapses
2. Distinguish between electrical and chemical transmissions at synapses
3. Describe excitatory and inhibitory postsynaptic potentials
4. Outline the ionic fluxes that underlie them
5. Explain how the excitatory and inhibitory potentials interact to generate action potentials
6. Recognise the functions of dendrites for exciting
7. Discuss the properties of synapses
8. Describe the effects of hypoxia, acidosis and alkalosis on synaptic transmission
9. Describe the effects of caffeine, tetanus and botulinum toxin, strychnine and anesthetics on the synaptic transmissionBiophysics Thermodynamics 1 Chapter Notes
Biophysics Thermodynamics 1 Chapter NotesPKLI-Institute of Nursing and Allied Health Sciences Lahore , Pakistan.
油
Biophysics Unit 01: Thermodynamics
This unit introduces the fundamental principles of thermodynamics and their application in biological and physiological systems. It explores how energy is exchanged and transformed in the human body, forming the basis of many critical clinical processes.
Key Concepts Covered:
System & Surroundings: Open, closed, and isolated systems relevant to physiological environments (e.g., respiratory system as an open system).
Zeroth Law: Basis for clinical thermometry and body temperature regulation.
First Law of Thermodynamics (Law of Energy Conservation): Application in calorimetry, metabolic rate calculation, and ATP energy balance.
Second Law of Thermodynamics: Directionality of biological processes, entropy, and energy efficiency in muscle contraction and enzymatic activity.
Third Law: Conceptual relevance in absolute zero and physiological limits.
Clinical Applications:
Energy transformations during cellular respiration
Thermal regulation and homeostasis in patients
Bioenergetics in critical care (e.g., post-operative energy needs, fever metabolism)
Use of thermodynamic principles in medical devices (ventilators, incubators, dialysis machines)NURSING MANAGEMENT OF PATIENT WITH KIDNEY AND URINARY SYSTEM DISORDERS
NURSING MANAGEMENT OF PATIENT WITH KIDNEY AND URINARY SYSTEM DISORDERSRekhanjali Gupta
油
Urethritis is an inflammation of the urethra, the tube that carries urine from the bladder out of the body. It's often caused by a bacterial infection, commonly a sexually transmitted infection (STI) like gonorrhea or chlamydia. Pain or burning during urination is a key symptom, along with other symptoms like urethral discharge and the frequent need油to油urinate.Emerging Therapies in Ovarian Cancer.pptx
Emerging Therapies in Ovarian Cancer.pptxNEIGRIHMS, SHILLONG
油
New Drug Development in the Treatment of Ovarian Cancer: Future Perspectives
Ovarian cancer remains a major challenge in gynecologic oncology due to its late diagnosis, high relapse rate, and limited long-term treatment success. While surgery and platinum-based chemotherapy remain the mainstays of therapy, advances in molecular biology and precision medicine are transforming the treatment landscape. The future of ovarian cancer management lies in the development of targeted therapies, immunotherapy, and innovative drug delivery systems, aiming for personalized and durable outcomes.
PARP inhibitors have been among the most significant breakthroughs, particularly in patients with BRCA mutations or homologous recombination deficiency (HRD). Agents like olaparib, niraparib, and rucaparib work by exploiting defects in DNA repair mechanisms, leading to synthetic lethality in tumor cells. Their use has expanded from treatment of recurrent disease to maintenance therapy in first-line settings. Current research focuses on overcoming resistance by combining PARP inhibitors with other agents, such as immune checkpoint inhibitors, anti-angiogenic drugs, or ATR inhibitors.
Immunotherapy has had modest results in ovarian cancer so far, likely due to the immunosuppressive tumor microenvironment. However, future strategies are exploring combinations of checkpoint inhibitors (like pembrolizumab or nivolumab) with chemotherapy, PARP inhibitors, or anti-VEGF agents to enhance tumor immunogenicity. Additionally, experimental approaches such as CAR-T cells, oncolytic viruses, and cancer vaccines are under investigation.
Angiogenesis inhibitors, such as bevacizumab, have shown clinical benefit and are approved in both first-line and recurrent disease settings. Novel anti-angiogenic agents and combination regimens aim to further exploit the tumors reliance on blood supply while improving drug delivery and immune cell access.
Emerging therapies like antibody-drug conjugates (ADCs) offer targeted cytotoxicity by linking monoclonal antibodies to chemotherapy agents. Mirvetuximab soravtansine, targeting folate receptor alpha (FR留), is a leading ADC showing promise in platinum-resistant ovarian cancer.
Epigenetic therapies are another exciting avenue. Agents that modify DNA methylation or histone acetylation may reverse chemoresistance and sensitize tumors to other treatments. Similarly, targeting hormonal pathways and metabolic dependencies (like glucose and lipid metabolism) offers potential in select subtypes.
Looking ahead, the integration of genomic profiling, biomarkers, and artificial intelligence is driving a shift toward precision oncology. Techniques like liquid biopsy allow real-time monitoring of tumor evolution and therapeutic response. Moreover, advances in nanotechnology and local drug delivery systems are improving the precision and tolerability of therapies.
In conclusion, the future of ovarian cancer treatment is bright, with a strong focus on indiPublic Health-Definition ,concept and development.pdf
Public Health-Definition ,concept and development.pdfMUSTAFA MOHAMMED
油
slides for presentation regarding Public Health1. introduction to Biomechanics chap 1. onepptx.pptx
1. introduction to Biomechanics chap 1. onepptx.pptxBolan University of Medical and Health Sciences ,Quetta
油
The human body, move and interact with their environment, applying principles of physics and engineering. It's crucial for understanding movement, improving performance, preventing injuries, and developing treatments. By analyzing forces, motion, and energy transfer, biomechanics helps optimize training, rehabilitation, and even the design of medical devices and equipment.
Dr Aliya S.M
BUMHS , QtaAcetate mevalonate pathway (mevalonic acid pathway).pdf
Acetate mevalonate pathway (mevalonic acid pathway).pdfsamuelwadia
油
A vivid description of the acetate mevalonate pathway, a gateway for many secondary metabolites among which are volatile oils, saponins, and cardiac glycosides.
This particular document shows the origins of monoterpenes, diterpenes, sesquiterpenoids, triterpenoids and tetraterpenoids. From Established to Emerging Therapies: Expert Perspectives on the Latest Evi...
From Established to Emerging Therapies: Expert Perspectives on the Latest Evi...PeerVoice
油
Nicholas J. Silvestri, MD, FAAN, and Heinz Wiendl, MD, discuss generalised myasthenia gravis in this CE activity titled "From Established to Emerging Therapies: Expert Perspectives on the Latest Evidence Base on FcRn Inhibitors for gMG." For the full presentation, please visit us at www.peervoice.com/WWE870.
Nerve Physiology - Properties of Action Potential
Nerve Physiology - Properties of Action PotentialMedicoseAcademics
油
Learning Objectives:
1. Explain the concept of all or nothing principle in propagation of an action potential
2. Differentiate between absolute and relative refractory periods
3. Explain the effect of hypocalcemia on permeability of sodium channels
4. Distinguish the effects of hyperkalemia, hypercalcemia, and hypoxia on the resting membrane potential & action potential Ventricles and Cerebro Spinal Fluid notes
Ventricles and Cerebro Spinal Fluid notesAnurag Joseph
油
Cerebrospinal Fluid (CSF)
Clear, colorless fluid found in the brain and spinal cord
Produced by the choroid plexus in the ventricles
Functions:
Cushions the brain (protection)
Removes waste
Delivers nutrients
Maintains intracranial pressure
Normal volume: ~150 mL
Circulates through ventricles subarachnoid space absorbed by arachnoid villi into venous system
Ventricles of the Brain
4 interconnected cavities filled with CSF:
Lateral ventricles (2) one in each cerebral hemisphere
Third ventricle midline, between the thalamus
Fourth ventricle between brainstem and cerebellum
CSF flow:
Lateral ventricles Foramen of Monro Third ventricle Cerebral aqueduct Fourth ventricle Subarachnoid spaceADHD || Attention Deficit Hyperactivity Dissorder
ADHD || Attention Deficit Hyperactivity DissorderAnurag Joseph
油
ADHD Attention Deficit Hyperactivity Disorder
Presented by: Anurag Joseph
Course: M.Sc. Final Year (Mental Health Nursing)
Institution: SMT RD GARDI Nurses Training Centre
Case Study 1 Inattentive Type (Raju)
5th standard student
Trouble focusing in class; often daydreams
Misses deadlines; delays homework
Slow information processing; indecisive
Case Study 2 Hyperactive-Impulsive Type (Rahul)
3rd standard student
Cannot sit still; loud and aggressive
Talks fast; interrupts; impatient
Disruptive, energetic when unsupervised
Behavioral Problems in School
Inattention + Hyperactivity
Impacts learning, peer interaction, discipline
Introduction
ADHD is a developmental disorder marked by co-existing attention problems and hyperactivity, rarely found alone.
Definition (DSM-5 Inspired)
A neurodevelopmental disorder with persistent inattention and/or hyperactivity-impulsivity, interfering with functioning or development, starting in childhood.
Prevalence
5.1 million children diagnosed in the U.S.
6.8% (ages 410), 11.4% (ages 1114), 10.2% (ages 1517)
Symptoms may appear by age 4; diagnosable by 7
68% of affected children carry symptoms into adulthood
Causes of ADHD
Genetic Causes
Strong hereditary link
Runs in families
Biological Factors
Brain and neurotransmitter dysfunction
Abnormal brain region volumes
Environmental Factors
Exposure to toxins (e.g., microplastics)
Prenatal and perinatal risks
Unstable home or school environment
Psychological Contributions
Negative feedback from peers/teachers
Low self-esteem, peer rejection, isolation
Symptoms of ADHD
1. Inattention
Easily distracted, forgetful, daydreams
Avoids long tasks, misses details
Trouble completing homework and following instructions
Difficulty processing information
2. Hyperactivity
Fidgeting, inability to sit still
Excessive talking and movement
Constantly in motion, impulsive behavior
3. Impulsiveness
Acts without thinking, interrupts frequently
Instant gratification, inappropriate outbursts
Anxiety about future events
Why ADHD Children Are Different
Issues in executive functions, working memory, motor inhibition, time management, and emotional regulation
Problems with decision making, reward system, and risky behavior
Diagnosis of ADHD
Requires 6 symptoms (children) or 5 symptoms (adolescents/adults) over 6+ months in 2+ settings
Tools include:
Medical, neurological, vision, hearing exams
Psychiatric evaluation (IQ, academics)
Teacher/parent observations
Brain imaging (MRI), prenatal history
DSM-5 Key Diagnostic Points
Persistent inattention/hyperactivity
Symptoms must interfere with daily function
Inattention signs include careless mistakes, trouble focusing, forgetfulness, etc.
Management Goals & Strategies
1. Prevent Trauma
Provide structured environments
Maintain routine for predictability
2. Improve Thought Process
Use Cognitive Behavioral Therapy (CBT)
Consider medication if necessary
3. Boost Self-Esteem
Encourage positive Spondyloepiphyseal dysplasia is a mimicker of arthritis
Spondyloepiphyseal dysplasia is a mimicker of arthritisRitasman Baisya
油
Musculoskeletal involvement in children is often challenging, with a wide range of benign conditions, such as growing pain, to severe systemic diseases. Spondylo-epiphyseal dysplasia (SED) is an autosomal recessive disease of the skeletal system that often mimics juvenile idiopathic arthritis (JIA) with no response to anti-rheumatic therapy.
Case - A young male, 22 years of age, presented with a history of pain in his upper and lower back and multiple small and large joints since five years of age. He denied any morning stiffness or increased nocturnal pain. Previously, he was treated outside as juvenile idiopathic arthritis with methotrexate, sulfasalazine and injection Adalimumab. However, his mother denied any symptomatic improvement of his pain. On examination, his growth was stunted with significant kyphoscoliosis. (Figure 1 ) He had an antalgic gait with exaggerated lumbar lordosis. He had mild tenderness in both hips, knees and ankles with flexion contracture and bony swelling at bilateral proximal & distal interphalangeal joints (PIP and DIP), referred to as camptodactyly. (Figure 2 ) His cervical and lumbar movement was severely restricted, with bilateral hip movement restricted. Laboratory investigation showed normal ESR CRP. Rheumatoid factor was low titre positive, anti-CCP antibody and HLA-B27 by PCR were negative. His skeletal radiographic images showed platyspondyly in the thoracolumbar spine, epiphyseal widening in MCP and IP joints with ovoid carpal bones (Figure 3), platyspondyly in the thoracolumbar spine (Figure 4) , hip joint sclerosis . (Figure 5 ) His diagnosis was reconsidered as spondyloepiphyseal dysplasia (SED) . He was started with extensive physiotherapy and symptomatic pain relief treatment and noticed improvement in his pain and quality of life.
Brief discussion - SED predominantly involves articular cartilage, which results in joint stiffness and epiphyseal enlargement. Typically starting at 2-8 years of age, they manifest with pain, stiffness and swelling of extremity joints. (1) On examination, the swelling is predominantly bony without any evidence of inflammation. Over time, the large joints and the spine get involved, causing significant joint contractures, gait abnormality, kyphoscoliosis, abnormal posture and poor quality of life. There are reported cases where SED have been misdiagnosed as JIA with no response to immunomodulatory treatment. (1,2) SED's radiological features differ from JIA, with platyspondyly being an early finding in the skeletal image, epiphyseal enlargement, and lack of destructive joint erosions. Though SED is considered a rare entity, one large study by Dalal et al. (3) reported 35 cases of SED from 25 unrelated families with 11 different homozygous mutations and one instance of compound heterozygosity in the WISP3 gene. It proves that this entity is not very uncommon in India.
Nasal Vaccine and Therapeutics Development and Delivery.pptx
Nasal Vaccine and Therapeutics Development and Delivery.pptxProf. Dr. Basavaraj Nanjwade
油
Nasal Vaccine and Therapeutics Development and Delivery by Prof. Dr. Basavaraj K. NanjwadeComprehensive Overview of Jaundice, Hepatitis Types, and Alcoholic Liver Dise...
Comprehensive Overview of Jaundice, Hepatitis Types, and Alcoholic Liver Dise...Dr Aman Suresh Tharayil
油
This presentation provides a clear and detailed overview of liver-related disorders including jaundice, hepatitis (A to F), and alcoholic liver disease. It explores causes (pre-hepatic, hepatic, post-hepatic), signs and symptoms, pathogenesis, and treatment approaches. The slides also cover various types of hepatitis viruses, their modes of transmission, and public health relevance. Designed for pharmacy and healthcare students, this deck simplifies complex hepatic conditions for academic understanding and clinical awareness.VARIOUS CHILDBIRTH PRACTICES USED IN OBGpptx
VARIOUS CHILDBIRTH PRACTICES USED IN OBGpptxdaminipatel37
油
VARIOUS CHILDBIRTH PRACTICE USED IN SENARIO IN MIDWIFERY PORACTICE IS DESCRIBED HERE Streamlining Pharma Logistics A Guide to Good Distribution Practices (GDP).pptx
Streamlining Pharma Logistics A Guide to Good Distribution Practices (GDP).pptxDr. Smita Kumbhar
油
Good Distribution Practices (GDP) are a critical component of quality assurance in the pharmaceutical supply chain, ensuring that medicines are consistently stored, transported, and handled under suitable conditions. Adhering to GDP helps safeguard product quality and protect patients from ineffective or harmful pharmaceuticals. As global commerce expands, harmonized GDP regulations have emerged, supported by WHO, USP, CDSCO, and ISO frameworks. This article explores the legal landscape, principles, operational standards, personnel responsibilities, documentation protocols, premises and equipment norms, delivery and return procedures, self-inspection processes, and the role of stability testing, offering a comprehensive view of the global GDP ecosystem.
1. Introduction to Good Distribution Practices (GDP)
Good Distribution Practices refer to a set of guidelines ensuring that pharmaceutical products are consistently stored, transported, and handled under suitable conditions as required by the marketing authorization or product specification. The concept is closely related to Good Manufacturing Practices (GMP), with a focus on the post-manufacturing phase of the supply chain. GDP encompasses the entire logistical flow from the manufacturer to the final point of supply, ensuring integrity, traceability, and safety of medicinal products.
GDP is essential because any deviation in storage or transport conditions can compromise the product's efficacy and safety. Compliance with GDP minimizes the risks related to contamination, mix-ups, and product degradation, and helps in the identification and recall of defective products.
2. Legal GDP Requirements Worldwide
Various global bodies have established GDP guidelines. In the European Union, the most referenced document is the "Guidelines on Good Distribution Practice of medicinal products for human use" (2013/C 343/01). These guidelines outline specific requirements for personnel, premises, documentation, and transportation.
In the United States, the FDA and the United States Pharmacopeia (USP) provide detailed standards concerning the distribution of pharmaceutical products. USP Chapter <1079> focuses on good storage and shipping practices, particularly for temperature-sensitive products.
WHO provides GDP guidelines applicable to all member states, particularly focusing on developing nations to ensure consistent quality standards. Similarly, India's Central Drugs Standard Control Organization (CDSCO) issues GDP-related rules, focusing on wholesalers, distributors, and transportation services. These regional adaptations serve to align GDP globally while respecting local regulatory and infrastructural capacities.
3. Core Principles of GDP
The foundation of GDP lies in the following principles:
Ensuring the quality, safety, and efficacy of pharmaceutical products during distribution.
Full traceability of every product batch throughout the supply chain.
Preventing counterfeit or substandard medicines Introduction to ergonomics Lecturs 1(a).pptx
Introduction to ergonomics Lecturs 1(a).pptxBolan University of Medical and Health Sciences ,Quetta
油
The science of fitting jobs to people, and biomechanics, the study of human movement, are closely related and both important for workplace health and safety. Ergonomics aims to optimize the interaction between humans and their work environment to minimize stress and improve well-being. Biomechanics provides the scientific basis for understanding how human movements and forces affect the body, informing ergonomic interventions to prevent injuries and improve productivity.
Dr Aliya S.M
BUMHS,QtaBiophysics Thermodynamics 1 Chapter Notes
Biophysics Thermodynamics 1 Chapter NotesPKLI-Institute of Nursing and Allied Health Sciences Lahore , Pakistan.
油
1. introduction to Biomechanics chap 1. onepptx.pptx
1. introduction to Biomechanics chap 1. onepptx.pptxBolan University of Medical and Health Sciences ,Quetta
油
Comprehensive Overview of Jaundice, Hepatitis Types, and Alcoholic Liver Dise...
Comprehensive Overview of Jaundice, Hepatitis Types, and Alcoholic Liver Dise...Dr Aman Suresh Tharayil
油
Introduction to ergonomics Lecturs 1(a).pptx
Introduction to ergonomics Lecturs 1(a).pptxBolan University of Medical and Health Sciences ,Quetta
油
Cardiomyopathy in fabry disease
- 1. Cardiomyopathy in Fabry Disease The Case of Mr. B By Nancy Smith
- 2. Cardiomyopathy in Fabry Disease Mr. B 81 yo male, history of childhood asthma, had abnormality on annual EKG in 2003. Followed up with ECHO, which showed mild left ventricular hypertrophy. Stable annual ECHOs until 2011, when LVH increased. Referred to Hypertrophic Cardiomyopathy Clinic; genetic testing for HCM and Fabry with alpha-GAL enzyme activity was done.
- 3. Cardiomyopathy in Fabry Disease Mr. B Alpha-GAL level was < 1%, genetic testing showed N215S mutation on GLA gene, thus diagnosed with Fabry disease at age 77. Referred to genetics. Fabry history revealed lifelong hypohidrosis and 3-4 episodes per year of diarrhea/constipation and tinnitus. No other Fabry symptoms so Mr. B. declined ERT in 8/11. Continued routine genetics follow-ups. In 2014, Mr. B developed severe dyspnea on exertion, marked increase in fatigue, and increase in productive cough. Pulmonary work-up negative. Concomitant cardiac work-up showed supraventricular arrhythmia.
- 4. Cardiomyopathy in Fabry Disease Mr. B Since heart was determined to be cause of dyspnea and fatigue, ERT with Fabrazyme was initiated in 5/14 for LVH. Additionally in 9/14, ICD was placed for arrhythmia. Within 3 months of starting ERT, Mr. Bs energy level, dyspnea, cough and hypohidrosis were significantly improved. Family history at initial visit revealed mother who died of congestive heart failure, who had had an ICD placed and also had hypohidrosis. Brother also had ICD placed. Mr. Bs two daughters and grandson have had genetic testing: one daughter has Fabry disease, with renal Fabry symptoms and will be starting ERT.