This document discusses signs of virginity, pregnancy, and delivery. It describes genital and extragenital signs of virginity like an intact hymen. It outlines presumptive, probable, and positive signs of pregnancy like amenorrhea and a positive pregnancy test. Signs of recent and remote delivery are also provided, such as lochia discharge and breast changes. Legal implications of examining virginity, pregnancy, and delivery are mentioned.
The document discusses sexual offenses from a medicolegal perspective. It defines various types of sexual offenses according to Sri Lankan law, including rape, incest, unnatural offenses, gross indecency, grave sexual abuse, and sexual harassment. It then describes how victims of sexual offenses may present, with or without a complaint, noting various potential injuries and signs. It emphasizes the importance of obtaining informed consent and providing support when taking a thorough history from victims.
This document defines pre-pubertal bleeding and outlines its causes and approaches to management. It discusses the developmental anatomy and physiology of the genital tract in infants/toddlers, preschoolers, and older children. Common causes of pre-pubertal bleeding include vulvovaginitis, urethral prolapse, lichen sclerosus, foreign bodies, trauma, precocious puberty, and rare tumors. A thorough history, physical exam, and investigations are needed to evaluate the bleeding and identify its cause, which is often a local genital tract lesion but could occasionally be a serious condition like cancer. Careful diagnosis is important for successful treatment.
Infertilidad masculina español / Male´s infertility spanish version Miguel Maldonado-Avila
Actualidades en el diagnostico y tratamiento de la infertilidad masculina en español
Update in male´s infertility diagnosis and therapeutics. Spanish version
Este documento describe el desarrollo puberal normal y patológico. Explica las modificaciones somáticas que ocurren durante la pubertad como el aumento del crecimiento, la acumulación de grasa y el desarrollo de los caracteres sexuales secundarios. También describe las causas de la pubertad precoz, como tumores y trastornos endocrinos, y los métodos de diagnóstico e intervención médica para tratar este trastorno.
Avances en el servicio de ginecología del insn 2012Jorge Corimanya
El Servicio de Ginecología del INSN fue creado en 1995 para atender las afecciones ginecológicas de niñas y adolescentes. Desde entonces, ha experimentado un crecimiento en consultas externas, hospitalizaciones e intervenciones quirúrgicas. El servicio también ha adoptado nuevas tecnologías como la videocolposcopia y ecografía Doppler, y ha ampliado su capacitación en ginecología pediátrica y de la adolescencia.
Es un pequeño documento que realice para presentar un seminario de pediatría donde mi tema a presentar era la ambigüedad Sexual. Espero les sirva para algo
Sexual assault related laws and examination of survivourDr. FAIZ AHMAD
- The document discusses sexual offences and classifications such as natural, unnatural, and sexual perversions. It defines and provides examples of rape.
- Key legal provisions regarding rape in India are outlined, including definitions, punishments, and exceptions. Rape is defined as sexual intercourse without consent and several acts are described.
- Consent and will are distinguished, and circumstances invalidating consent are explained through examples. Statutory rape and inability to communicate consent are also addressed.
This document discusses signs of virginity, pregnancy, and delivery. It describes genital and extragenital signs of virginity like an intact hymen. It outlines presumptive, probable, and positive signs of pregnancy like amenorrhea and a positive pregnancy test. Signs of recent and remote delivery are also provided, such as lochia discharge and breast changes. Legal implications of examining virginity, pregnancy, and delivery are mentioned.
The document discusses sexual offenses from a medicolegal perspective. It defines various types of sexual offenses according to Sri Lankan law, including rape, incest, unnatural offenses, gross indecency, grave sexual abuse, and sexual harassment. It then describes how victims of sexual offenses may present, with or without a complaint, noting various potential injuries and signs. It emphasizes the importance of obtaining informed consent and providing support when taking a thorough history from victims.
This document defines pre-pubertal bleeding and outlines its causes and approaches to management. It discusses the developmental anatomy and physiology of the genital tract in infants/toddlers, preschoolers, and older children. Common causes of pre-pubertal bleeding include vulvovaginitis, urethral prolapse, lichen sclerosus, foreign bodies, trauma, precocious puberty, and rare tumors. A thorough history, physical exam, and investigations are needed to evaluate the bleeding and identify its cause, which is often a local genital tract lesion but could occasionally be a serious condition like cancer. Careful diagnosis is important for successful treatment.
Infertilidad masculina español / Male´s infertility spanish version Miguel Maldonado-Avila
Actualidades en el diagnostico y tratamiento de la infertilidad masculina en español
Update in male´s infertility diagnosis and therapeutics. Spanish version
Este documento describe el desarrollo puberal normal y patológico. Explica las modificaciones somáticas que ocurren durante la pubertad como el aumento del crecimiento, la acumulación de grasa y el desarrollo de los caracteres sexuales secundarios. También describe las causas de la pubertad precoz, como tumores y trastornos endocrinos, y los métodos de diagnóstico e intervención médica para tratar este trastorno.
Avances en el servicio de ginecología del insn 2012Jorge Corimanya
El Servicio de Ginecología del INSN fue creado en 1995 para atender las afecciones ginecológicas de niñas y adolescentes. Desde entonces, ha experimentado un crecimiento en consultas externas, hospitalizaciones e intervenciones quirúrgicas. El servicio también ha adoptado nuevas tecnologías como la videocolposcopia y ecografía Doppler, y ha ampliado su capacitación en ginecología pediátrica y de la adolescencia.
Es un pequeño documento que realice para presentar un seminario de pediatría donde mi tema a presentar era la ambigüedad Sexual. Espero les sirva para algo
Sexual assault related laws and examination of survivourDr. FAIZ AHMAD
- The document discusses sexual offences and classifications such as natural, unnatural, and sexual perversions. It defines and provides examples of rape.
- Key legal provisions regarding rape in India are outlined, including definitions, punishments, and exceptions. Rape is defined as sexual intercourse without consent and several acts are described.
- Consent and will are distinguished, and circumstances invalidating consent are explained through examples. Statutory rape and inability to communicate consent are also addressed.
Este documento resume la ginecología pediátrica en tres etapas: la infancia, la pubertad y la adolescencia. Durante la infancia, la patología ginecológica es infrecuente y generalmente banal, aunque es importante descartar malformaciones. En la pubertad hay un mayor número de consultas por una patología más compleja. En la adolescencia, las causas más comunes de consulta son las alteraciones menstruales, la dismenorrea, la patología mamaria, las ulceras vulvares, la anticoncepción, el embaraz
The cultivation theory proposes that television shapes viewers' perceptions of social reality. It suggests that heavy television viewers are more likely to see the real world as dangerous and violent due to the frequent depictions of crime and violence on television. However, critics argue that the theory has many flaws, as it fails to account for viewers' demographics and does not consider the influence of specific television shows versus television in general. There are also questions around whether surveys adequately assessed viewers' perceptions before television exposure. Overall, the document concludes the cultivation theory is not very promising due to its numerous weaknesses.
This document discusses various aspects of infanticide and determining whether a child was born alive or dead. It defines terms like infanticide, feticide, and filicide. It describes methods to investigate cases, including examining the mother and child. Signs of a live birth include changes in the lungs, stomach/intestines, and middle ear after respiration occurs. Tests like the hydrostatic test examine whether lungs float to determine if air was inhaled. The document discusses characteristics of stillborn and deadborn fetuses, maceration, and radiological signs of intrauterine death.
This presentation i have made to understand the approach to a kidney biopsy in depth. kidney biopsy is not done in all centers and that's why its difficult to understand it. i have put some cases also to understand it better.
This document provides an overview of amenorrhea, including:
1. Definitions of primary and secondary amenorrhea and classifications based on cause and presentation.
2. Requirements for normal menstruation including a coordinated neuroendocrine axis and patent reproductive tract.
3. Causes of pathological amenorrhea including hypothalamic-pituitary disorders, gonadal dysgenesis, weight changes, and structural abnormalities of the reproductive tract.
Este documento describe las etapas del desarrollo femenino desde la niñez hasta la madurez, incluyendo la pubertad y la menarquia. Explica los cambios anatómicos y hormonales que ocurren en cada etapa, así como los métodos para evaluar el desarrollo de los caracteres sexuales secundarios. La pubertad se inicia entre los 8-13 años cuando los ovarios comienzan a secretar estrógenos y andrógenos, dando lugar al desarrollo de los senos, vello púbico y otros cambios,
A POWER POINT PRESENTATION BY DR.SANGEETA CHOWDHRY & DR.SUNIL SHARMA, DEPARTMENT OF FORENSIC MEDICINE & TOXICOLOGY, GOVT. MEDICAL COLLEGE, JAMMU (JAMMU AND KASHMIR)
Virginity and Defloration and its medicolegal aspectsDr Vivek Kumar
1. The document discusses virginity, defloration, and their medicolegal importance. It describes the anatomy of the female reproductive system and signs of virginity such as an intact hymen.
2. Impotence in males is defined as the inability to achieve or maintain an erection sufficient for sexual intercourse. Causes can be congenital, inflammatory, endocrine, neoplastic, or psychiatric. Tests to evaluate male sterility are also outlined.
3. Female sterility and impotence have similar causes to males. Additional causes may include blockage of the fallopian tubes or vaginal atresia. Evaluation of female reproductive issues is also discussed.
Impotency a clinical and forensic perspectivebalaji singh
This document provides information on impotence, including its definition, causes, examinations, investigations, and treatments. It begins by defining impotence as the inability to perform or engage in sexual intercourse. It then discusses various clinical definitions and perspectives from medicine and law. The document outlines many potential causes of impotence including physical, psychological, drug-related factors and various medical conditions. It describes examinations, tests, and evaluations used to assess impotence involving medical history, physical exams, blood tests, imaging, and more. Finally, it discusses treatment options for impotence ranging from lifestyle changes and counseling to oral medications, injections, and other therapies.
This document outlines procedures for examining a victim of rape. It details obtaining informed consent, examining the victim for signs of struggle or injury, collecting forensic evidence like clothing, swabs, and specimens, and analyzing this evidence for signs of sexual assault like sperm, blood, semen, or STDs. The victim's statement is also recorded in detail regarding the assault. Genital and anal areas are examined closely, as well as other body parts, for injuries. Collected evidence is sent for analysis and DNA profiling to identify the perpetrator. The timeframe that sperm can be detected in vaginal samples is also outlined.
El documento resume los conceptos clave de la adolescencia y pubertad. Define la adolescencia como el periodo entre los 10-19 años marcado por cambios biológicos, psicológicos y sociales que transforman al niño en adulto. Explica las etapas de la pubertad y los cambios hormonales que ocurren, incluyendo la aparición de caracteres sexuales secundarios. También cubre temas como la pubertad precoz, sus causas y tratamientos.
Obstetricia forence terminado 04 de julio çGirasol Kenta
El documento trata sobre obstetricia forense, la cual analiza situaciones relacionadas con el embarazo y el parto desde una perspectiva legal. Incluye definiciones de términos como embarazo, gestación y signos de posibilidad, probabilidad y certeza del embarazo. También describe casos legales en los que es necesario determinar la existencia de un embarazo y clasifica diferentes tipos de aborto según el Código Penal.
The document discusses the history of railway spine and whiplash injuries. It describes how railway spine was first observed in the 1860s following train accidents in Britain. There was debate around whether injuries were physical or psychological. Eventually, it was recognized as traumatic neurosis (PTSD). The document also discusses whiplash injuries, their symptoms, causes from car accidents, and importance of proper headrest positioning to prevent whiplash.
A POWER POINT PRESENTATION BY DR.SANGEETA CHOWDHRY & DR.SUNIL SHARMA, DEPARTMENT OF FORENSIC MEDICINE & TOXICOLOGY, GOVT. MEDICAL COLLEGE, JAMMU (JAMMU AND KASHMIR)
The patient, an 18-year-old boy, presented with deafness and was found to have unilateral sensorineural hearing loss on examination. An MRI showed a vestibular schwannoma. A biopsy found Verocay bodies, indicating a schwannoma. The physician diagnosed neurofibromatosis type 2 based on the bilateral vestibular schwannomas and family history. NF2 is characterized by bilateral vestibular schwannomas and other nervous system tumors due to a genetic mutation. The patient was referred for surgical treatment of the tumors.
This document discusses postmenopausal bleeding and provides information about menopause. It defines key terms like menopause, pathophysiology of menopause, and risk factors. It then describes postmenopausal bleeding including potential causes, clinical features, diagnosis, and management. Investigations for postmenopausal bleeding may include ultrasound, hysteroscopy, laparoscopy, and biopsy. Treatment involves addressing the underlying cause and patients may need to be observed during treatment.
CNN was founded in 1980 and was the first 24-hour cable news network in the US. It gained a reputation for providing live breaking news coverage of major events like the Challenger explosion, Gulf War, and 9/11 attacks. This "CNN Effect" influenced public opinion and government diplomacy. However, CNN's definition of breaking news has expanded and its exclusivity in live coverage has declined with new competitors. CNN has faced criticism for lack of on-the-ground coverage of events like the Iran elections in 2009 and ratings have declined to their lowest levels since 2000.
This document discusses abortion from medical, legal, and forensic perspectives. It defines natural/spontaneous, induced/artificial, justifiable/legal, and illegal/criminal abortions. It outlines the Medical Termination of Pregnancy Act of 1971 and its provisions regarding gestation periods, qualifications of registered medical practitioners, and methods of abortion. It also discusses criminal abortion, methods used, complications, applicable sections of the Indian Penal Code, and medical evidence in cases of living and dead victims.
This document outlines guidelines for conducting a medical examination to evaluate male potency or impotence. It details the relevant medical, sexual, and trauma history to collect. The physical examination involves examining the penis, scrotum, and other systems. Relevant investigations like blood tests, imaging, and psychological evaluation may also be performed. The conclusion is that while physical examination cannot rule out psychogenic causes, an opinion on potency can be given in a double negative form stating whether there is any evidence of incapability.
Este documento resume la ginecología pediátrica en tres etapas: la infancia, la pubertad y la adolescencia. Durante la infancia, la patología ginecológica es infrecuente y generalmente banal, aunque es importante descartar malformaciones. En la pubertad hay un mayor número de consultas por una patología más compleja. En la adolescencia, las causas más comunes de consulta son las alteraciones menstruales, la dismenorrea, la patología mamaria, las ulceras vulvares, la anticoncepción, el embaraz
The cultivation theory proposes that television shapes viewers' perceptions of social reality. It suggests that heavy television viewers are more likely to see the real world as dangerous and violent due to the frequent depictions of crime and violence on television. However, critics argue that the theory has many flaws, as it fails to account for viewers' demographics and does not consider the influence of specific television shows versus television in general. There are also questions around whether surveys adequately assessed viewers' perceptions before television exposure. Overall, the document concludes the cultivation theory is not very promising due to its numerous weaknesses.
This document discusses various aspects of infanticide and determining whether a child was born alive or dead. It defines terms like infanticide, feticide, and filicide. It describes methods to investigate cases, including examining the mother and child. Signs of a live birth include changes in the lungs, stomach/intestines, and middle ear after respiration occurs. Tests like the hydrostatic test examine whether lungs float to determine if air was inhaled. The document discusses characteristics of stillborn and deadborn fetuses, maceration, and radiological signs of intrauterine death.
This presentation i have made to understand the approach to a kidney biopsy in depth. kidney biopsy is not done in all centers and that's why its difficult to understand it. i have put some cases also to understand it better.
This document provides an overview of amenorrhea, including:
1. Definitions of primary and secondary amenorrhea and classifications based on cause and presentation.
2. Requirements for normal menstruation including a coordinated neuroendocrine axis and patent reproductive tract.
3. Causes of pathological amenorrhea including hypothalamic-pituitary disorders, gonadal dysgenesis, weight changes, and structural abnormalities of the reproductive tract.
Este documento describe las etapas del desarrollo femenino desde la niñez hasta la madurez, incluyendo la pubertad y la menarquia. Explica los cambios anatómicos y hormonales que ocurren en cada etapa, así como los métodos para evaluar el desarrollo de los caracteres sexuales secundarios. La pubertad se inicia entre los 8-13 años cuando los ovarios comienzan a secretar estrógenos y andrógenos, dando lugar al desarrollo de los senos, vello púbico y otros cambios,
A POWER POINT PRESENTATION BY DR.SANGEETA CHOWDHRY & DR.SUNIL SHARMA, DEPARTMENT OF FORENSIC MEDICINE & TOXICOLOGY, GOVT. MEDICAL COLLEGE, JAMMU (JAMMU AND KASHMIR)
Virginity and Defloration and its medicolegal aspectsDr Vivek Kumar
1. The document discusses virginity, defloration, and their medicolegal importance. It describes the anatomy of the female reproductive system and signs of virginity such as an intact hymen.
2. Impotence in males is defined as the inability to achieve or maintain an erection sufficient for sexual intercourse. Causes can be congenital, inflammatory, endocrine, neoplastic, or psychiatric. Tests to evaluate male sterility are also outlined.
3. Female sterility and impotence have similar causes to males. Additional causes may include blockage of the fallopian tubes or vaginal atresia. Evaluation of female reproductive issues is also discussed.
Impotency a clinical and forensic perspectivebalaji singh
This document provides information on impotence, including its definition, causes, examinations, investigations, and treatments. It begins by defining impotence as the inability to perform or engage in sexual intercourse. It then discusses various clinical definitions and perspectives from medicine and law. The document outlines many potential causes of impotence including physical, psychological, drug-related factors and various medical conditions. It describes examinations, tests, and evaluations used to assess impotence involving medical history, physical exams, blood tests, imaging, and more. Finally, it discusses treatment options for impotence ranging from lifestyle changes and counseling to oral medications, injections, and other therapies.
This document outlines procedures for examining a victim of rape. It details obtaining informed consent, examining the victim for signs of struggle or injury, collecting forensic evidence like clothing, swabs, and specimens, and analyzing this evidence for signs of sexual assault like sperm, blood, semen, or STDs. The victim's statement is also recorded in detail regarding the assault. Genital and anal areas are examined closely, as well as other body parts, for injuries. Collected evidence is sent for analysis and DNA profiling to identify the perpetrator. The timeframe that sperm can be detected in vaginal samples is also outlined.
El documento resume los conceptos clave de la adolescencia y pubertad. Define la adolescencia como el periodo entre los 10-19 años marcado por cambios biológicos, psicológicos y sociales que transforman al niño en adulto. Explica las etapas de la pubertad y los cambios hormonales que ocurren, incluyendo la aparición de caracteres sexuales secundarios. También cubre temas como la pubertad precoz, sus causas y tratamientos.
Obstetricia forence terminado 04 de julio çGirasol Kenta
El documento trata sobre obstetricia forense, la cual analiza situaciones relacionadas con el embarazo y el parto desde una perspectiva legal. Incluye definiciones de términos como embarazo, gestación y signos de posibilidad, probabilidad y certeza del embarazo. También describe casos legales en los que es necesario determinar la existencia de un embarazo y clasifica diferentes tipos de aborto según el Código Penal.
The document discusses the history of railway spine and whiplash injuries. It describes how railway spine was first observed in the 1860s following train accidents in Britain. There was debate around whether injuries were physical or psychological. Eventually, it was recognized as traumatic neurosis (PTSD). The document also discusses whiplash injuries, their symptoms, causes from car accidents, and importance of proper headrest positioning to prevent whiplash.
A POWER POINT PRESENTATION BY DR.SANGEETA CHOWDHRY & DR.SUNIL SHARMA, DEPARTMENT OF FORENSIC MEDICINE & TOXICOLOGY, GOVT. MEDICAL COLLEGE, JAMMU (JAMMU AND KASHMIR)
The patient, an 18-year-old boy, presented with deafness and was found to have unilateral sensorineural hearing loss on examination. An MRI showed a vestibular schwannoma. A biopsy found Verocay bodies, indicating a schwannoma. The physician diagnosed neurofibromatosis type 2 based on the bilateral vestibular schwannomas and family history. NF2 is characterized by bilateral vestibular schwannomas and other nervous system tumors due to a genetic mutation. The patient was referred for surgical treatment of the tumors.
This document discusses postmenopausal bleeding and provides information about menopause. It defines key terms like menopause, pathophysiology of menopause, and risk factors. It then describes postmenopausal bleeding including potential causes, clinical features, diagnosis, and management. Investigations for postmenopausal bleeding may include ultrasound, hysteroscopy, laparoscopy, and biopsy. Treatment involves addressing the underlying cause and patients may need to be observed during treatment.
CNN was founded in 1980 and was the first 24-hour cable news network in the US. It gained a reputation for providing live breaking news coverage of major events like the Challenger explosion, Gulf War, and 9/11 attacks. This "CNN Effect" influenced public opinion and government diplomacy. However, CNN's definition of breaking news has expanded and its exclusivity in live coverage has declined with new competitors. CNN has faced criticism for lack of on-the-ground coverage of events like the Iran elections in 2009 and ratings have declined to their lowest levels since 2000.
This document discusses abortion from medical, legal, and forensic perspectives. It defines natural/spontaneous, induced/artificial, justifiable/legal, and illegal/criminal abortions. It outlines the Medical Termination of Pregnancy Act of 1971 and its provisions regarding gestation periods, qualifications of registered medical practitioners, and methods of abortion. It also discusses criminal abortion, methods used, complications, applicable sections of the Indian Penal Code, and medical evidence in cases of living and dead victims.
This document outlines guidelines for conducting a medical examination to evaluate male potency or impotence. It details the relevant medical, sexual, and trauma history to collect. The physical examination involves examining the penis, scrotum, and other systems. Relevant investigations like blood tests, imaging, and psychological evaluation may also be performed. The conclusion is that while physical examination cannot rule out psychogenic causes, an opinion on potency can be given in a double negative form stating whether there is any evidence of incapability.
Introduction to 16S rRNA gene multivariate analysisJosh Neufeld
Short introductory talk on multivariate statistics for 16S rRNA gene analysis given at the 2nd Soil Metagenomics conference in Braunschweig Germany, December 2013. A previous talk had discussed quality filtering, chimera detection, and clustering algorithms.
Principles of DNA isolation, PCR and LAMPPerez Eric
1. The document discusses principles of DNA isolation and purification as well as polymerase chain reaction (PCR). It describes how cells are broken to release DNA and the components of extraction buffers used to isolate DNA.
2. The three main steps of PCR - denaturation, annealing, and elongation - are explained. Denaturation separates DNA strands, annealing attaches primers, and elongation duplicates the DNA. Required PCR reagents and their roles are also outlined.
3. Loop-mediated isothermal amplification (LAMP) is introduced as an alternative to PCR that amplifies DNA at a constant temperature. LAMP uses multiple primers and has advantages like lower cost and faster results. The mechanism and applications of LAMP are summarized.
Biol2 Lecture 2 Dna Isolation And Agarose GelEricT1
The document discusses DNA isolation and agarose gel electrophoresis. It describes how DNA can be extracted from various biological sources and purified. The process involves lysing cells, removing proteins, and separating DNA from other molecules. Agarose gel electrophoresis is then used to separate DNA fragments by size, as smaller fragments move more quickly through the gel under an electric field. The document outlines the basic steps for preparing an agarose gel, loading samples mixed with dye, running the gel, and visualizing DNA bands under UV light.
The polymerase chain reaction (PCR) is a method used to rapidly amplify a specific region of DNA through repeated cycles of heating and cooling. It allows for the analysis and replication of short DNA or RNA sequences and is faster than using vectors, requiring only a small amount of target DNA. While useful for medical research, cloning, and forensic analysis, it is limited to short fragments under 5kb and requires prior knowledge of flanking sequences to design primers.
This document discusses the use of 16S ribosomal RNA (rRNA) gene sequencing for bacterial identification and phylogenetic analysis. It explains that the 16S rRNA gene is highly conserved, making it useful for comparing distantly related organisms. The document outlines the process of 16S rRNA gene sequencing, including PCR amplification using conserved primer regions and sequencing of variable regions. It also discusses various methods that have been developed using 16S rRNA, such as TRFLP profiling and ribotyping, to study microbial communities.
Bacterial Identification by 16s rRNA Sequencing.pptRakesh Kumar
Bacteria are the most abundant life forms on Earth, with a single gram of soil containing 40 million bacterial cells. Most bacterial species have yet to be identified due to their abundance. DNA sequencing of the 16s rRNA gene is a common technique used to identify bacterial species. The process involves isolating bacteria from a sample, extracting DNA, amplifying and sequencing the 16s rRNA gene, and comparing the sequence to databases to identify matches. 16s rRNA gene sequencing provides a more accurate identification of bacteria than phenotypic methods.
Poly acrylamide gel electrophoresis (page)Dharmesh Gol
This document provides an overview of polyacrylamide gel electrophoresis (PAGE). It describes how PAGE uses an electric field to separate charged biomolecules like proteins and nucleic acids based on their size and charge. The document discusses the principles and instrumentation of electrophoresis. It explains how polyacrylamide gels are made and the procedures for PAGE. Different types of PAGE like SDS-PAGE and native PAGE are also summarized.
PCR is a technique for amplifying DNA sequences. It requires template DNA, reaction buffer, magnesium ions, dNTPs, primers, and DNA polymerase. Variations include colony PCR, nested PCR, and real-time PCR, which uses fluorescent probes to detect amplification in real time. Common probe types are SYBR Green dyes, TaqMan probes, molecular beacons, and hybridization probes, which use FRET between donor and acceptor dyes. Real-time PCR instruments contain excitation sources and fluorometers to detect fluorescence levels during thermal cycling.
This document provides information about electrophoresis. It discusses different types of electrophoretic techniques including slab electrophoresis, capillary electrophoresis, capillary zone electrophoresis, capillary gel electrophoresis, capillary isotachophoresis, and micellar electrokinetic chromatography. It also covers principles, instrumentation, applications in areas like DNA analysis and vaccine analysis.
This document provides an overview of electrophoresis techniques presented by Miss Sayanti Sau. It discusses the basic principles of electrophoresis and defines different types including zone electrophoresis techniques like paper, gel, thin layer, and cellulose acetate electrophoresis. It also covers moving boundary electrophoresis techniques such as capillary electrophoresis, isotachophoresis, and isoelectric focusing. Details are provided on gel electrophoresis methods including agarose, polyacrylamide, and SDS-PAGE. Applications and advantages of various electrophoresis techniques are highlighted.
Polymerase chain reaction (PCR) is a technique used to amplify a specific DNA sequence. It involves repeated cycles of heating and cooling of the DNA sample to separate and copy the DNA strands. PCR requires DNA polymerase, primers, nucleotides, buffer, and thermal cycling. It has many applications including detecting pathogens, DNA fingerprinting, and genetic testing.
Obsahem prezentace je 11 bioptických a nekroptických případů, které byly diagnostikovány na oddělení patologie Nemocnice Na Bulovce. Případy byly demonstrovány na XVI. sklíčkovém semináři 29.11.2013. Prezentace je určena především patologům, event. lékařům jiných oborů a studentům medicíny.
Vzestup a pád genové terapie (Josef "Faskal" Novák)Maelström
Genová terapie byla ve svých počátcích vnímána jako zázračná léčba, kterou lze vyléčit všechny neduhy. Při úvodních experimentech však došlo k řadě neštěstí, a byla dlouho vnímána jako špatná cesta. Může znovu vstát z popela? Jaká jsou rizika, naděje a co se doteď povedlo na poli genové terapie?
Přednáška MUDr. Bronislavy Korsové na I. Celostátní konferenci ADHD.
Porucha ADHD a její diagnostika bude pojednána z pohledu neurologa. Dozvíte se, kdy je zapotřebí neurologické vyšetření a kdy je nutná spolupráce neurologa s dalšími odborníky. Získáte přehled o tom, jak mezioborová spolupráce funguje. Přednášející také nastíní současné možnosti léčby ADHD a představí i své zkušenost s léčbou a nejčastěji se vyskytující obtíže.
Více na www.raabe.cz/adhd
Prezentace obsahují zajímavé bioptické případy z tradičního XIX. sklíčkového semináře oddělení patologie Nemocnice Na Bulovce, který proběhl 24.11.2017 v prostorách nemocnice. Celkem bylo demonstrováno devět případů z Nemocnice Na Bulovce a dva z jiných pražských pracovišť patologie (AeskuLab, Thomayerova nemocnice).
4. Klasifikace geneticky
podmíněných chorob
• Rozlišujeme 3 hlavní typy onemocnění, které
jsou zcela nebo částečně podmíněny genetickými
faktory:
1. monogenní onemocnění
2. chromozomální poruchy
3. multifaktoriální onemocnění
5. Monogenní onemocnění
• způsobena mutacemi jednotlivých genů
• známo více než 10 000 chorob
• dělíme je na:
– autosomálně dominantní - př. Marfanův syndrom, familiární
hypercholesterolémie
– autosomálně recesivní - cystická fibróza, polycystóza ledvin,
deficit střevní laktázy, fenylketonurie
– X vázané - hemofilie A a B, Duchenneova a Beckerova
svalová dystrofie
6. Chromozomální poruchy
• jedná se o nadbytek nebo nedostatek genů
obsažených v celých chromozomech nebo
v chromozomálních segmentech
• př. Downův syndrom (trizomie chromosomu 21),
Edwardsův syndrom (trizomie chromosomu 18),
Turnerův syndrom (monozomie chromosomu X)
7. Multifaktoriální dědičnost
• znak je podmíněný kombinací genetických
i negenetických faktorů, kdy každý sám o sobě
má jen malý účinek
• př. orofaciální rozštěpy, vrozené vývojové vady
srdce, schizofrenie, hypertenze, ICHS, diabetes
mellitus II. typu, alergie
8. Downův syndrom
• trizomie 21. chromozomu
• nejčastější z chromozomálních syndromů
• incidence - závisí na věku matky
Věk matky Incidence
> 20 let 1: 1925
> 25 let 1: 1205
> 30 let 1: 885
> 35 let 1: 365
> 40 let 1: 110
> 45 let 1 : 32
> 49 let 1 : 12
15. Klinefelterův syndrom
• gonozomální aberace
• 47, XXY
• incidence 1:1000, ovlivněno věkem rodičů
• v časném dětství chudá symptomatologie
• diagnóza často až během puberty
• Příznaky:
– mentální retardace
– úzkostlivost, stydlivost, agresivita
– eunuchoidní habitus - vysoký vzrůst, dlouhé dolní končetiny, hypoplastická
varlata, malý penis
- gynekomastie, infertilita
16.
17. Syndrom fragilního X
• gonozomální aberace
• incidence 1:1500 u chlapců a 1:5000 u dívek
• fragilita X chromozomu
• Příznaky:
– velké ušní boltce
– protáhlý obličej
– zvětšená varlata
– hyperaktivita
– mentální retardace - průměrné IQ 50
18.
19. Super-žena
• 47 XXX
• incidence 1:1000
• Příznaky:
– nenápadný fenotyp
– klidné, pasivní, snadno vychovatelné
– obvykle vysoké postavy
– poruchy vývoje řeči
– opožděné emocionální vyzrávání
– normální pohlavní vývoj
20. Super-muž
• 47 XYY
• incidence 1:1000
• Příznaky:
– nenápadný fenotyp
– vysoký vzrůst
– kriminalistické sklony
– pasivita, nestálost, agresivita někdy zvýšena, psychická labilita
– nižší IQ
21. Pravý hermafroditismus
• přítomny oba typy pohlavních žláz (ovárium a varle)
• karyotyp normální nebo mozaika (46 XX, 46 XY)
• velice vzácné
• nejdůležitější je určení matričního
(legislativního pohlaví) - max. do 2 let