DOCSLIB.ORG

Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842. 4301 Connecticut Avenue NW 2) Meldrum C, et al. Spinal muscular Suite 404 atrophy genetic counseling access I do not want SMA carrier testing. and genetic knowledge: Parents’ Washington, D.C. 20008-2369 Perspectives. J Child Neurol 2007; 22:1019-1026. (202) 966-5557 3) Sugarman EA, et al. Pan-ethnic carrier www.geneticalliance.org screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; Patient Signature 20:27-32. Date The most common inherited cause of early childhood death Thanks to the Claire Altman Heine Foundation for Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, providing content for this spinal muscular atrophy a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Obtained by patient guide. ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-065-v4-0112 This model informed consent form is provided by Integrated Genetics as a courtesy to physicians and their patients. Integrated Genetics Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, Client Services (800) 848-4436 a wholly-owned subsidiary of Laboratory Corporation of America Holdings. www.integratedgenetics.com www.integratedgenetics.com Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842. 4301 Connecticut Avenue NW 2) Meldrum C, et al. Spinal muscular Suite 404 atrophy genetic counseling access I do not want SMA carrier testing. and genetic knowledge: Parents’ Washington, D.C. 20008-2369 Perspectives. J Child Neurol 2007; 22:1019-1026. (202) 966-5557 3) Sugarman EA, et al. Pan-ethnic carrier www.geneticalliance.org screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; Patient Signature 20:27-32. Date The most common inherited cause of early childhood death Thanks to the Claire Altman Heine Foundation for Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, providing content for this spinal muscular atrophy a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Obtained by patient guide. ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-065-v4-0112 This model informed consent form is provided by Integrated Genetics as a courtesy to physicians and their patients. Integrated Genetics Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, Client Services (800) 848-4436 a wholly-owned subsidiary of Laboratory Corporation of America Holdings. www.integratedgenetics.com www.integratedgenetics.com Spinal Muscular Informed Consent/Decline for Spinal Muscular Atrophy Resources About Integrated Genetics Atrophy SMA Carrier Screening (Continued from other side) Claire Altman Heine Foundation Integrated Genetics has been 1112 Montana Avenue a leader in genetic testing My signature below indicates that I have read, Suite 372 and counseling services for or had read to me, the above information and I Santa Monica, CA 90403 over 25 years. understand it. I have also read or had explained to (310) 260-3262 me the specific disease(s) or condition(s) tested www.clairealtmanheinefoundation.org This brochure is provided for, and the specific test(s) I am having, including by Integrated Genetics as the test descriptions, principles and limitations. Families of Spinal Muscular Atrophy an educational service for 925 Busse Road physicians and their patients. Elk Grove Village, IL 60007 For more information on I have had the opportunity to discuss the purposes (800) 886-1762 our genetic testing and and possible risks of this testing with my doctor or www.fsma.org someone my doctor has designated. I know that counseling services, genetic counseling is available to me before and National Society of Genetic Counselors please visit our web sites: after the testing. I have all the information I want, 401 N. Michigan Avenue www.mytestingoptions.com and all my questions have been answered. Chicago, IL 60611 www.integratedgenetics.com (312) 321-6834 I have decided that: www.nsgc.org References: 1) Prior TW. ACMG Practice Guidelines: Carrier screening for spinal muscular I want SMA carrier testing. Genetic Alliance atrophy. Genet Med 2008; 10:840-842. 4301 Connecticut Avenue NW 2) Meldrum C, et al. Spinal muscular Suite 404 atrophy genetic counseling access I do not want SMA carrier testing. and genetic knowledge: Parents’ Washington, D.C. 20008-2369 Perspectives. J Child Neurol 2007; 22:1019-1026. (202) 966-5557 3) Sugarman EA, et al. Pan-ethnic carrier www.geneticalliance.org screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. Eur J Hum Genet 2012; Patient Signature 20:27-32. Date The most common inherited cause of early childhood death Thanks to the Claire Altman Heine Foundation for Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, providing content for this spinal muscular atrophy a wholly-owned subsidiary of Laboratory Corporation of America Holdings. Obtained by patient guide. ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-065-v4-0112 This model informed consent form is provided by Integrated Genetics as a courtesy to physicians and their patients. Integrated Genetics Integrated Genetics is a business unit of Esoterix Genetic Laboratories, LLC, Client Services (800) 848-4436 a wholly-owned subsidiary of Laboratory Corporation of America Holdings. www.integratedgenetics.com www.integratedgenetics.com Spinal Muscular 50% (2 out of 4) chance that the child will inherit If my test is negative, Informed Consent/Decline for one normal and one abnormal SMA gene, and will could I still be a carrier? Spinal Muscular Atrophy (SMA) Atrophy (SMA) be a carrier of SMA (but not affected) Carrier Screening A negative result significantly lowers, but does not 25% (1 out of 4) chance that the child will inherit completely eliminate, the risk of being a carrier of two abnormal SMA genes – one from each You should be certain you understand the SMA. Carrier screening does not detect less common This brochure contains general information parent – and will be affected with the disease following points: abnormalities (mutations) that cause SMA. about Spinal Muscular Atrophy (SMA) carrier 1. The purpose of my genetic testing is to determine screening and how SMA is inherited. It is our Could I be a carrier of SMA? whether I, or my baby, have mutation(s) known to be If the test shows I am a carrier, hope that you find this information helpful, but associated with SMA. You could be a carrier of SMA even if no one in what should I do? 2. This testing is done on a small sample of blood. For if you have any additional questions please the baby, testing is done on amniotic fluid, CVS, or your family has SMA and even if you already have contact your doctor or a genetics professional.
Load more

Recommended publications
  • Efficacy of Texture and Color Enhancement Imaging In
    www.nature.com/scientificreports OPEN Efcacy of Texture and Color Enhancement Imaging in visualizing gastric mucosal atrophy and gastric neoplasms Tsubasa Ishikawa1, Tomoaki Matsumura1*, Kenichiro Okimoto1, Ariki Nagashima1, Wataru Shiratori1, Tatsuya Kaneko1, Hirotaka Oura1, Mamoru Tokunaga1, Naoki Akizue1, Yuki Ohta1, Keiko Saito1, Makoto Arai1,2, Jun Kato1 & Naoya Kato1 In 2020, Olympus Medical Systems Corporation introduced the Texture and Color Enhancement Imaging (TXI) as a new image-enhanced endoscopy. This study aimed to evaluate the visibility of neoplasms and mucosal atrophy in the upper gastrointestinal tract through TXI. We evaluated 72 and 60 images of 12 gastric neoplasms and 20 gastric atrophic/nonatrophic mucosa, respectively. The visibility of gastric mucosal atrophy and gastric neoplasm was assessed by six endoscopists using a previously reported visibility scale (1 = poor to 4 = excellent). Color diferences between gastric mucosal atrophy and nonatrophic mucosa and between gastric neoplasm and adjacent areas were assessed using the International Commission on Illumination L*a*b* color space system. The visibility of mucosal atrophy and gastric neoplasm was signifcantly improved in TXI mode 1 compared with that in white-light imaging (WLI) (visibility score: 3.8 ± 0.5 vs. 2.8 ± 0.9, p < 0.01 for mucosal atrophy; visibility score: 2.8 ± 1.0 vs. 2.0 ± 0.9, p < 0.01 for gastric neoplasm). Regarding gastric atrophic and nonatrophic mucosae, TXI mode 1 had a signifcantly greater color diference than WLI (color diferences: 14.2 ± 8.0 vs. 8.7 ± 4.2, respectively, p < 0.01). TXI may be a useful observation modality in the endoscopic screening of the upper gastrointestinal tract.
    [Show full text]
  • Gas Gangrene Infection of the Eyes and Orbits
    Br J Ophthalmol: first published as 10.1136/bjo.69.2.143 on 1 February 1985. Downloaded from British Journal of Ophthalmology, 1985, 69, 143-148 Gas gangrene infection of the eyes and orbits GERARD W CROCK,' WILSON J HERIOT,' PATTABIRAMAN JANAKIRAMAN,' AND JOHN M WEINER2 From the 'Department of Ophthalmology, University ofMelbourne, and the2C H Greer Pathology Laboratory, the Royal Victorian Eye and Ear Hospital, East Melbourne, Australia SUMMARY The literature on Clostridium perfringens infections is reviewed up to 1983. An additional case is reported with bilateral clostridial infections of the eye and orbit. One eye followed the classical course of relentless panophthalmitis, amaurosis, and orbital cellulitis ending in enucleation. The second eye contained intracameral mud and gas bubbles that were removed by vitrectomy instrumentation. Subsequent removal of the toxic cataract resulted in a final aided visual acuity of 6/18, N8. This is the third report of a retained globe, and we believe the only known case where the patient was left with useful vision. Clostridium perfringens is a ubiquitous Gram- arms, chest, and abdomen. He was admitted to a positive bacillus found in soil and bowel flora. It is the general hospital, where he was examined under most common of four clostridia species identified in anaesthesia, and his injuries were attended to. copyright. cases of gas gangrene in man.' All species are obligate Ocular findings. The right cornea and anterior anaerobes and are usually saprophytic rather than chamber were intact. There was a scleral laceration pathogenic. Clostridium perfringens is a feared con- over the superonasal area of the pars plana with taminant of limb injuries and may result in death due vitreous prolapse.
    [Show full text]
  • Voice of the Patient Report for Spinal Muscular Atrophy
    V OICE OF THE PATIENT REPORT A summary report resulting from an Externally-Led Patient Focused Drug Development Meeting reflecting the U.S. Food and Drug Administration (FDA) Patient-Focused Drug Development Initiative Spinal Muscular Atrophy (SMA) Externally Led Public Meeting: April 18, 2017 Report Date: January 10, 2018 Title of Resource: The Voice of the Patient Report for Spinal Muscular Atrophy Authors: Contributors to the collection of the information and development of the document are: Cure SMA: Rosangel Cruz, Megan Lenz, Lisa Belter, Kenneth Hobby, Jill Jarecki Medical Writer: Theo Smart Cruz, Lenz, Belter, Hobby, and Jarecki are all employees of Cure SMA and have no disclosures. Cure SMA has received funding from certain companies for work on projects unrelated to the Patient-Focused Drug Development meeting. Funding Received: The report was funded by grants received from the SMA Industry Collaboration to support Cure SMA’s production and execution of the Externally-Led Patient-Focused Drug Development initiative for SMA and the engagement of an outside medical writing professional to assist in the development, editing, and production of The Voice of the Patient report for SMA. The members of the SMA Industry Collaboration are Astellas Pharmaceuticals, AveXis, Inc., Biogen, Genentech/Roche Pharmaceuticals, Cytokinetics Inc., Novartis Pharmaceuticals, and Ionis Pharmaceuticals, Inc. Version Date: January 10, 2018 Revision Statement: This resource document has not been revised and/or modified in any way after January 10, 2018. Statement of Use: Cure SMA has the necessary permissions to submit the “The Voice of the Patient for SMA” report to the U.S. FDA.
    [Show full text]
  • Spinal Muscular Atrophy Testing
    Lab Management Guidelines v2.0.2019 Spinal Muscular Atrophy Testing MOL.TS.225.B v2.0.2019 Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline SMN1 Gene Analysis; Dosage/Deletion 81329 Analysis (eg, carrier testing), includes SMN2 Analysis, if performed SMN1 Full Gene Sequencing 81336 SMN1 Known Familial Mutation Analysis 81337 What is spinal muscular atrophy Definition Spinal muscular atrophy (SMA) is a severe, autosomal recessive neuromuscular disease that affects 1 in 8000 to 1 in 10,000 people.1,2 SMA is caused by loss of lower motor neurons (anterior horn cells) in the spinal cord, resulting in progressive symmetrical muscle weakness and atrophy.1-3 SMA has historically been divided into three to five clinical subtypes based on age of onset and clinical course. While genetic testing has shown these clinical subtypes are not completely distinct, they are still widely used, and include:1-3 o Prenatal onset form (“Type 0” proposed) is characterized by polyhydramnios, decreased fetal movements, breech presentation, arthrogryposis multiplex congenita, respiratory failure at birth, and life span less than 6 months. o Type I (infantile or Werdnig-Hoffmann type) is the most common form (60-70% of cases). It presents before 6 months of age with death often before age 2 due to respiratory failure. Affected children have severe, generalized weakness and do not ever sit without support.
    [Show full text]
  • Short Course 10 Metaplasia in The
    0 3: 436-446 Rev Esp Patot 1999; Vol. 32, N © Prous Science, SA. © Sociedad Espajiola de Anatomia Patot6gica Short Course 10 © Sociedad Espafiola de Citologia Metaplasia in the gut Chairperson: NA. Wright, UK. Co-chairpersons: G. Coggi, Italy and C. Cuvelier, Belgium. Overview of gastrointestinal metaplasias only in esophagus but also in the duodenum, intestine, gallbladder and even in the pancreas. Well established is columnar metaplasia J. Stachura of esophageal squamous epithelium. Its association with increased risk of esophageal cancer is widely recognized. Recent develop- Dept. of Pathomorphology, Jagiellonian University ments have suggested, however, that only the intestinal type of Faculty of Medicine, Krakdw, Poland. metaplastic epithelium (classic Barrett’s esophagus) predisposes to cancer. Another field of studies is metaplasia in the short seg- ment at the esophago-cardiac junction, its association with Metaplasia is a reversible change in which one aduit cell type is Helicobacter pylon infection and/or reflux disease and intestinal replaced by another. It is always associated with some abnormal metaplasia in the cardiac and fundic areas. stimulation of tissue growth, tissue regeneration or excessive hor- Studies on gastric mucosa metaplasia could be divided into monal stimulation. Heterotopia, on the other hand, takes place dur- those concerned with pathogenesis and detailed structural/func- ing embryogenesis and is usually supposed not to be associated tional features and those concerned with clinical significance. with tissue damage. Pancreatic acinar cell clusters in pediatric gas- We know now that gastric mucosa may show not only complete tric mucosa form another example of aberrant cell differentiation. and incomplete intestinal metaplasia but also others such as ciliary Metaplasia is usually divided into epithelial and connective tis- and pancreatic metaplasia.
    [Show full text]
  • Hyperplasia (Growth Factors
    Adaptations Robbins Basic Pathology Robbins Basic Pathology Robbins Basic Pathology Coagulation Robbins Basic Pathology Robbins Basic Pathology Homeostasis • Maintenance of a steady state Adaptations • Reversible functional and structural responses to physiologic stress and some pathogenic stimuli • New altered “steady state” is achieved Adaptive responses • Hypertrophy • Altered demand (muscle . hyper = above, more activity) . trophe = nourishment, food • Altered stimulation • Hyperplasia (growth factors, . plastein = (v.) to form, to shape; hormones) (n.) growth, development • Altered nutrition • Dysplasia (including gas exchange) . dys = bad or disordered • Metaplasia . meta = change or beyond • Hypoplasia . hypo = below, less • Atrophy, Aplasia, Agenesis . a = without . nourishment, form, begining Robbins Basic Pathology Cell death, the end result of progressive cell injury, is one of the most crucial events in the evolution of disease in any tissue or organ. It results from diverse causes, including ischemia (reduced blood flow), infection, and toxins. Cell death is also a normal and essential process in embryogenesis, the development of organs, and the maintenance of homeostasis. Two principal pathways of cell death, necrosis and apoptosis. Nutrient deprivation triggers an adaptive cellular response called autophagy that may also culminate in cell death. Adaptations • Hypertrophy • Hyperplasia • Atrophy • Metaplasia HYPERTROPHY Hypertrophy refers to an increase in the size of cells, resulting in an increase in the size of the organ No new cells, just larger cells. The increased size of the cells is due to the synthesis of more structural components of the cells usually proteins. Cells capable of division may respond to stress by undergoing both hyperrtophy and hyperplasia Non-dividing cell increased tissue mass is due to hypertrophy.
    [Show full text]
  • Ghasemi Gh. Comparison of Laparoscopic Ovarian Drilling
    Archive of SID Original Article Comparison of Laparoscopic Ovarian Drilling Success between Two Standard and Dose-Adjusted Methods in Polycystic Ovary Syndrome: A Randomized Clinical Trial Leili Hafizi, M.D.1, Maliheh Amirian, M.D.2, Yasmin Davoudi, M.D.3, Mona Jaafari, M.D.1, Ghazal Ghasemi, M.D.1* 1. Department of Obstetrics and Gynaecology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran 2. Department of IVF and Infertility, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran 3. Department of Radiology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran Abstract Background: One of the treatment methods for increasing the ovarian response to ovulation induction in polycystic ovary syndrome (PCOS) is laparoscopic ovarian drilling (LOD). The optimal amount of the electrosurgical energy discharged in the ovaries to achieve maximum treatment response with minimal follicle injury is unknown. This study was performed to compare the success level of LOD by means of standard and dose-adjusted treatment methods among infertile clomiphene-resistant PCOS women. Materials and Methods: This randomized clinical trial was conducted on infertile clomiphene citrate-resistant PCOS women in the Gynaecology Department of Imam Reza Hospital between 2016 and 2017. The patients were randomly di- vided into two groups based on the ovarian cautery method. The two groups were examined and compared regarding the antral follicles, the serum levels of anti-Müllerian hormone (AMH), androgens, and mid-luteal progesterone one month after surgery. The regularity of cycles, ovulation, and pregnancy were examined monthly up to six months after surgery. Results: In total, 60 women received bilateral LOD (n=30 per group).
    [Show full text]
  • Cellular Adaptation
    Cellular Adaptation Dr. Adeboye OO (MBBS, Cert. LMIH, FMCPath) Dept of Anatomic Pathology Bowen University Cellular adaptation • Cell death is not the only consequence of cellular injury or stress • Cells can respond to excessive physiologic or pathologic stimuli by undergoing both functional and morphologic change in which a new steady state is achieved that preserves the viability of the cell(Adaptation) . • The adaptive response include- • Adaptation of growth and differentiation • Intracellular accumulation • Pathologic calcification • Hyaline change • Cellular aging Adaptation of growth and differentiation • Adaptations are reversible changes in the size, number,phenotype, metabolic activity, or functions of cells in response to changes in their environment. Such adaptations may take several distinct forms : • 1. hyperplasia • 2. hypertrophy • 3. atrophy • 4. metaplasia hypertrophy • Increase in the size of cells that result in the increase in size of the affected organ. • No new cells just larger cells • May coexist with hyperplasia in cells capable of division( eg epithelial, hematopoesis etc), in non dividing cells (eg the nerve ,cardiac and skeletal muscle) increase tissue mass is due to hypertrophy • Can be physiologic or pathologic Physiologic hypertrophy • Caused by- (a) increased functional demand eg hypertrophy of striated muscle in muscle builder.(b) stimulation by hormones or growth factors eg physiologic hypertrophy of the uterus during pregnancy Hypertrophy of uterus during pregnancy Micrograph showing smooth muscle
    [Show full text]
  • Brain-Derived Circulating Cell-Free DNA Defines the Brain Region and Cell Specific Origins Associated with Neuronal Atrophy
    bioRxiv preprint doi: https://doi.org/10.1101/538827; this version posted February 2, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Brain-derived circulating cell-free DNA defines the brain region and cell specific origins associated with neuronal atrophy Chatterton. Zac1,2,4,6,9*, Mendelev. Natalia1,2,4,6, Chen. Sean1,2,4,6, Raj. Towfique1,2, Walker. Ruth1,2,6,7, Carr. Walter10,11, Kamimori. Gary10, Beeri. Michal8, Ge. Yongchao4, Dwork. Andrew5, Haghighi. Fatemeh1,2,4,6* *Corresponding author. Email: [email protected] & [email protected] 1Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, 2Department of Neuroscience, 3Department of Psychiatry, 4Department of Neurology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029. 5Department of Pathology and Cell Biology, Columbia University, New York, USA. 6Medical Epigenetics, James J. Peters VA Medical Center, Bronx, USA. 7Department of Neurology, James J. Peters VA Medical Center, Bronx, USA 8The Joseph Sagol Neuroscience Center, Sheba Medical Center, Ramat Gan, Israel 9Brain and Mind Centre, The University of Sydney, Camperdown, Australia 10Walter Reed Army Institute of Research, Silver Spring, MD, USA 11Oak Ridge Institute for Science and Education, Oak Ridge, TN, USA Liquid biopsies are revolutionizing the fields non-invasive prenatal testing (NIPT). The of prenatal non-invasive testing and cancer technological advancements in NGS have diagnosis by leveraging the genetic differences increased the limits of detection of these between mother and fetus, and, host and techniques [4] to ~0.02%, which hold the cancer.
    [Show full text]
  • Spinal Muscular Atrophy
    Spinal Muscular Atrophy U.S. DEPARTMENT OF HEALTHAND HUMAN SERVICES National Institutes of Health Spinal Muscular Atrophy What is spinal muscular atrophy? pinal muscular atrophy (SMA) is a group Sof hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy. Motor neurons control movement in the arms, legs, chest, face, throat, and tongue. When there are disruptions in the signals between motor neurons and muscles, the muscles gradually weaken, begin wasting away and develop twitching (called fasciculations). What causes SMA? he most common form of SMA is caused by Tdefects in both copies of the survival motor neuron 1 gene (SMN1) on chromosome 5q. This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neurons. Individuals with SMA have insufficient levels of the SMN protein, which leads to loss of motor neurons in the spinal cord, producing weakness and wasting of the skeletal muscles. This weakness is often more severe in the trunk and upper leg and arm muscles than in muscles of the hands and feet. 1 There are many types of spinal muscular atrophy that are caused by changes in the same genes. Less common forms of SMA are caused by mutations in other genes including the VAPB gene located on chromosome 20, the DYNC1H1 gene on chromosome 14, the BICD2 gene on chromosome 9, and the UBA1 gene on the X chromosome. The types differ in age of onset and severity of muscle weakness; however, there is overlap between the types.
    [Show full text]
  • Cellular Adaptation
    ALTERATIONS IN CELLULAR AND TISSUE FUNCTION Lois E. Brenneman, MSN, APN, CELLULAR ADAPTATION Atrophy - decrease or shrinkage in cell size - Can (if sufficient numbers) result in shrinkage of entire organ Example: muscular atrophy after cast is removed Example: sports steroid abuse causes atrophy of penis - Physiologic atrophy - normal process Example: atrophy of thymus during childhood - Pathologic atrophy - disease process Example: Addison’s disease -> atrophy adrenal glands - Disuse Atrophy Example: Prolonged bed rest causes muscle atrophy Example: Casting limb causes atrophy Atrophic cells have fewer mitochondria and myofilaments Autophagic vacuoles occurs with malnutrition Lipofuscin - yellow-brown age pigment (may resist destruction) - Persists as membrane-bound residue bodies - Accumulates w age: liver, myocardial and atrophic cells - Results in “age spots” to skin “Age spots” Lipofuscin accumulation to skin © 2004 Lois E. Brenneman, MSN, CS, ANP, FNP all rights reserved - www.npceu.com 1 Hypertrophy - increase in cell size (vs cell number with hyperplasia) Results in increased size of organ Cardiac and kidney esp prone to hypertrophy Increased size -> increased cellular protein and not increased fluid Physiologic hypertrophy - normal process Example: muscle increase with exercise Example: genital size increase with hormones of puberty Pathologic hypertrophy - disease process Example - Left ventricular hypertrophy from hypertension -> congestive heart failure Triggers for hypertrophy Mechanical: stretch, exercise Trophic: growth factors, hormones, vasoactive agents CELLULAR HYPERTROPY Left: dependent edema in CHF Right: dilated cardiomyopathy Left ventricular hypertrophy (bottom) vs normal (top) © 2004 Lois E. Brenneman, MSN, CS, ANP, FNP all rights reserved - www.npceu.com 2 Hyperplasia - increase in number of cells (increased rate of cell division) - Can occur in response to injury esp with cell death - Can occur together with hypertrophy note: if organ with non-dividing cells (e.g.
    [Show full text]
  • Cutaneous Neonatal Lupus Erythematosus with Unusual Features
    Case Report CCutaneousutaneous neonatalneonatal lupuslupus erythematosuserythematosus withwith unusualunusual featuresfeatures SShankarhankar SSawant,awant, SS.. TT.. AAmladi,mladi, SS.. LL.. WWadhawa,adhawa, CC.. SS.. NNayak,ayak, BB.. PP.. NNikamikam Department of Dermatology, T. N. Medical College and BYL Nair Charitable Hospital, Mumbai, India. AAddressddress fforor ccorrespondence:orrespondence: Dr. Shankar Sawant, Department of Dermatology, TN Medical College and BYL Nair Charitable Hospital, Mumbai - 400008. India. E-mail: [email protected] ABSTRACT A three month-old boy was brought by his mother with complaints of multiple reddish lesions on his trunk and face since birth. The patient had erythematous annular plaques with scaling on his extremities, palms and soles with periorbital erythema and edema giving the characteristic “eye mask” or “owl’s eye” appearance. His mother did not have history of any illness. Hemogram, liver and renal function tests were within normal limits. A skin biopsy was suggestive of subacute cutaneous lupus erythematosus. Immunological work-up was positive for antinuclear antibodies (ANA) (1:40) with anti-Ro titers of 3.4 and 3.47 (>1.1 = clinically signifi cant titre) in the mother and child respectively, although negative for anti-La antibodies. The child’s electrocardiogram and 2D echocardiography were normal. We are presenting a case of anti-Ro- positive cutaneous lupus erythematosus with an uncommon skin manifestation. Key Words: Poikiloderma, Antinuclear antibodies, Anti-Ro antibody, ‘Owl’s eye’ appearance, Telangiectasias IINTRODUCTIONNTRODUCTION On physical examination, there were multiple hypopigmented and erythematous atrophic patches of varying sizes Neonatal lupus erythematosus (NLE) is an uncommon ranging from 0.5-5 cm, around the eyes [Figure 1], on the manifestation of lupus erythematosus that was first described retroauricular area, abdomen and back with prominent in 1954.[1,2] It is caused by transplacental transmission of telangiectasias mostly on the lesions on the back.
    [Show full text]