La recerca bàsica i traslacional en malalties rares és fonamental per entendre la fisiologia humana i per desenvolupar teràpies innovadores sovint útils també per malalties molt més prevalents. L’anèmia de Fanconi, caracteritzada per disfunció de la medul·la òssia i predisposició tumoral, n’és un exemple edificant. El primer transplantament de cordó umbilical de la història de la medicina fou en un pacient Fanconi. El primer nen medicament va néixer per curar un pacient Fanconi. El primer cop que s’han generat teixits sans per auto-transplantament curant, desprogramant i re-diferenciant cèl·lules de la pell d’un malalt ha estat en anèmia de Fanconi. I els primers assajos clínics de teràpia gènica s’estan desenvolupat també en malalties de la sang com l’anèmia de Fanconi. Aquests són alguns exemples de com l’estudi de malalties rares por transcendir més enllà del pacient afecte en benefici de tota la societat.
A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. Most genetic disorders are quite rare and affect one person in every several thousands or millions.
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.
La recerca bàsica i traslacional en malalties rares és fonamental per entendre la fisiologia humana i per desenvolupar teràpies innovadores sovint útils també per malalties molt més prevalents. L’anèmia de Fanconi, caracteritzada per disfunció de la medul·la òssia i predisposició tumoral, n’és un exemple edificant. El primer transplantament de cordó umbilical de la història de la medicina fou en un pacient Fanconi. El primer nen medicament va néixer per curar un pacient Fanconi. El primer cop que s’han generat teixits sans per auto-transplantament curant, desprogramant i re-diferenciant cèl·lules de la pell d’un malalt ha estat en anèmia de Fanconi. I els primers assajos clínics de teràpia gènica s’estan desenvolupat també en malalties de la sang com l’anèmia de Fanconi. Aquests són alguns exemples de com l’estudi de malalties rares por transcendir més enllà del pacient afecte en benefici de tota la societat.
A genetic disorder is a genetic problem caused by one or more abnormalities formed in the genome. Most genetic disorders are quite rare and affect one person in every several thousands or millions.
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.
The advances likes Next Generation Sequencing is more advanced than Microarray Compatability Genomic hybridization and it is 100% of sensitivity and specificity regarding aneuploidy sequencing from all biological samples.
These are diseases for which transplants of blood-forming stem cells (Hematopoietic Stem Cell Transplants, HSCT) are a standard treatment. For some diseases they are the only therapy, and in other diseases they are only employed when front-line therapies have failed or the disease is very aggressive. For more info visit: http://www.cryobanksindia.com/moms-corner/case-studies/
Trisomy 21 and other chromosomal abnormalitiesChiranzi Daudi
Downs, Edwards, Patau, Klinefelter, Turner, and other relevant Syndromes explained. The file includes their various mechanisms and clinical features. Together with their recommended management.
A genetic disease is any disease caused by an abnormality in the genetic makeup of an individual. The genetic abnormality can range from minuscule to major - from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some people inherit genetic disorders from the parents, while acquired changes or mutations in a preexisting gene or group of genes cause other genetic diseases. Genetic mutations can occur either randomly or due to some environmental exposure.
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
PRESENTATION IS COMPACT AND INFORMATIVE. HAS FLOWCHARTS AND DIAGRAMS. REFERENCE IS FROM LATEST ARTICLES AND STANDARD TEXTBOOKS. SERVES A GREAT DEAL TO BRUSH UP THE THEORETICAL KNOWLEDGE .
263778731218 Abortion Clinic /Pills In Harare ,sisternakatoto
263778731218 Abortion Clinic /Pills In Harare ,ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group ABORTION WOMEN’S CLINIC +27730423979 IN women clinic we believe that every woman should be able to make choices in her pregnancy. Our job is to provide compassionate care, safety,affordable and confidential services. That’s why we have won the trust from all generations of women all over the world. we use non surgical method(Abortion pills) to terminate…Dr.LISA +27730423979women Clinic is committed to providing the highest quality of obstetrical and gynecological care to women of all ages. Our dedicated staff aim to treat each patient and her health concerns with compassion and respect.Our dedicated group of receptionists, nurses, and physicians have worked together as a teamof receptionists, nurses, and physicians have worked together as a team wwww.lisywomensclinic.co.za/
Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Here is the updated list of Top Best Ayurvedic medicine for Gas and Indigestion and those are Gas-O-Go Syp for Dyspepsia | Lavizyme Syrup for Acidity | Yumzyme Hepatoprotective Capsules etc
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
Adv. biopharm. APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMSAkankshaAshtankar
MIP 201T & MPH 202T
ADVANCED BIOPHARMACEUTICS & PHARMACOKINETICS : UNIT 5
APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMS By - AKANKSHA ASHTANKAR
How STIs Influence the Development of Pelvic Inflammatory Disease.pptx
Chromosomes
1. vHL
3
Renal Cell carcinoma
3
Cri-du-Chat syn
5
FAP
5
Williams syndrome
chr 7
Elfin facies, intellectual disability, hypercalcemia (increased
sensistivity to VitD), loquaciousness and extreme friendliness,
cardiovascular problems.
Cystic fibrosis
2. AR, chr 7
Friedreich ataxi
aAR - Chr 9 - Frataxin protein -GAA repeat.
Impairment in mitochondrial functioning.
Posterior column degeneration and loss of sensory cells of DRG
(position and vibration sensation loss). Progressive ataxia of all 4
limbs caused by ascending and descending cerebellar
dysfunction
HCM in >50% causes cardiac arrhythmias and CHF; skeletal
deformities.
Presents in childhood with kyphoscoliosis. "Staggering gait"
frequently falling.
Wilms tumor
11
8. BRCA 2 (chromosome, Inheritance, type
of gene)
chromosome 13, autosomal dominant, tumor supressor)
BRCA2 , men breasts got cancer on the unlucky day # 13 and
on the same unlucky day13 # her baby had retinoblastoma
Prader-Willi Syndrome
(paternal or maternal deletion of what band on which
chromosome)
paternal deletion of q12 on chromosome 15
Angelman Syndrome
(deletion of what band on which chromosome)
maternal deletion of q12 on chromosome 15
Cri-du-chat syndrome
micro deletion of short arm of chromosome 5
9. O r iginalAlphabet ical
von Hippel-Lindau
3
renal cell carcinoma
3
AD polycystic kidney disease (PKD2)
4
achondriplasia
4
Huntington disease
4
15. velocardiofacial syndrome
22q11
fragile X syndrome
X
X-linked agammaglobulinemia
X
Klinefelter syndrome
X
Turner
45, XO - fertilization problems
Normally a defect in sperm gamete
16. Downs
Trisomy 21
Normally a defect in egg gamete
TPMT
Chromosome 6
Semi-Dominant
Achondroplasia
Chromosome 4
Dominant
Normally defect in sperm gamete
17. Osteogenesis Imperfecta
Chromosomes 17 and 7
Mostly dominant
De novo mutations
Blue schlera
Marfan
Chromosome 15
Dominant
Dominant Negative
Ehlers-Danlos
Chromosomes 17 and 7
Mostly dominant
Locus Heterogeneity
21. De novo
Hand wringing
Fragile X
X Chromosome
Dominant
Hypermethylation, Sherman paradox
Huntington's
Chromosome 4
Dominant
Worse is sperm
Box Car Ventricles
Retinoblastoma
Chromosome 13
Dominant
2 hit hypothesis
24. Niemann-Pick
Lysosomal storage disorder that presents with splenomegaly
Edwards
Trisomy18
Prominent occiput, Overlapping fingers
Patau
Trisomy 13
Microcephaly, Cleft lip and palate, Polydactyly
Please allow access to your computer’s microphone to use Voice Recording.
Turner
45, XO
Normally a defect in sperm gamete
25. Downs
Trisomy 21
Normally a defect in egg gamete
TPMT
Chromosome 6
Semi-Dominant
Achondroplasia
Chromosome 4
Dominant
Normally defect in sperm gamete
Osteogenesis Imperfecta
Chromosomes 17 and 7
Mostly dominant
26. De novo mutations
Blue schlera
Marfan
Chromosome 15
Dominant
Dominant Negative
Ehlers-Danlos
Chromosomes 17 and 7
Mostly dominant
Locus Heterogeneity
PKU
Chromosome 12
Recessive
Musty smell
27. Lesch-Nyhan
X Chromosome
Recessive
De novo mutations
OTC Deficiency
X Chromosome
Recessive
De novo mutation in sperm gamete
Cystinuria
Chromosome 2
Mostly recessive
Tay-Sachs
28. Chromosome 15
Recessive
Cherry red spot
Gaucher
Chromosome 1
Recessive
Splenomegaly
Duchenne MD
X Chromosome
Recessive
Gower's sign
Charcot-Marie-Tooth
29. Chromosome 17
Dominant
Gene dosage
Retts
X Chromosome
Dominant
De novo
Hand wringing
Fragile X
X Chromosome
Dominant
Hypermethylation, Sherman paradox
Huntington's
Chromosome 4
Dominant
Worse is sperm
Box Car Ventricles