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PGD: a Celebration of 20 Years
PGD: A Celebration of 20 years: What is Reality and What is Not? Roma June 30, 2010 Mark Hughes, M.D., Ph.D . Professor of Genetics, Internal Medicine, Pathology Director, Genesis Genetics Institute Director, State of Michigan Genomic Technology Center Reality – (Three obvious ones) PGD • Has led to the birth of thousands of healthy children to very desperate, genetically at-risk couples. • Remains at the very limit of medical diagnostic testing • The technology continues to improve - – but it is not reality to think PGD will ever have a 0% false positive or false negative rate Reality: We still do not know What is best to biopsy, and when? Polar Body Blastomere Trophoectoderm Variation in Biopsy Skill Clinic Biopsies +HCG / ET 1 314 17% 2 427 26% 3 181 12% 4 712 31% Reality: We all are controversial • PGD has raised international controversy – How is it bioethically different from Prenatal Testing? – Who should control the use of these technologies? – Should there be government PGD testing standards? • What is the difference between a Disease and a Trait - and who decides? PGD Disorders (A, B, C) • ACHONDROPLASIA (FGFR) • BARTH DILIATED CARDIOMYOPATHY • ACTIN-NEMALIN MYOPATHY (ACTA) • BETA THALASSEMIA (HBB) • ADRENOLEUKODYSTROPHY (ABCD) • BLOOM SYNDROME • AGAMMAGLOBULINEMIA-BRUTON (TYKNS) • BREAST CANCER (BRCA1 & 2) • ALAGILLE SYNDROME (JAG) • CACH-ATAXIA (EIFB) • ALDOLASE A, FRUCTOSE-BISPHOSPHATE • CADASIL (NOTCH) • ALPHA THALASSEMIA (HBA) • CANAVAN DISEASE (ASPA) • ALPHA-ANTITRYPSIN (AAT) • CARNITINE-ACYLCARN TRANSLOCASE • ALPORT SYNDROME -
Hypertrichosis Terminalis
97297 Med Genet 1996;33:972-974 An autosomal dominant syndrome of acromegaloid facial appearance and generalised J Med Genet: first published as 10.1136/jmg.33.11.972 on 1 November 1996. Downloaded from Department of hypertrichosis terminalis Medical Genetics, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland Alan D Irvine, Olivia M Dolan, David R Hadden, Fiona J Stewart, E Ann Bingham, A D Irvine Norman C Nevin F J Stewart N C Nevin Department of Dermatology, Royal Abstract A family with four affected subjects in three Group of Hospitals, Belfast BT12 6BA, We report a family in which a phenotype generations is reported. Affected subjects show Northern Ireland of acromegaloid facial appearance (AFA) a characteristic acromegaloid facial appearance 0 M Dolan and generalised hypertrichosis terminalis (AFA) and generalised hypertrichosis ter- E A Bingham segregates through three generations. minalis. The syndrome is inherited as an auto- Sir George E Clark Congenital hypertrichosis terminalis and somal dominant trait and appears to be fully Metabolic Unit, Royal AFA have been previously reported as in- penetrant. Acromegaloid facial appearance and Group of Hospitals, dependent autosomal dominant traits. hypertrichosis terminalis have been described Belfast BT12 6BA, Northern Ireland This is the first report to delineate an auto- in association with thickened oral mucosa and D R Hadden somal dominant transmission of the com- gingival hyperplasia.'"2 Affected patients in our Correspondence to: bined phenotype. family did not have intraoral lesions. The Dr Irvine. (JtMed Genet 1996;33:972-974) syndrome in our family appears to be discrete Received 14 May 1996 from the acromegaloid facial appearance syn- Revised version accepted for Key words: terminal hypertrichosis; acromegaloid drome,3 Gorlin-Chaudhry-Moss syndrome,4 publication 28 June 1996 facies; autosomal dominant. -
Associated Palmoplantar Keratoderma
DR ABIGAIL ZIEMAN (Orcid ID : 0000-0001-8236-207X) Article type : Review Article Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: New insight into skin epithelial homeostasis and avenues for treatment Authors: A. G. Zieman1 and P. A. Coulombe1,2 # Affiliations: 1Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109, USA; 2Department of Dermatology, University of Michigan Medical School, Ann Arbor, MI 48109, USA #Corresponding author: Pierre A. Coulombe, PhD, 3071 Biomedical Sciences Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109, USA. Tel: 734-615-7509. Email: [email protected]. Funding Sources: These studies were supported by grant AR044232 issued to P.A.C. from the National Institute of Arthritis, Musculoskeletal and Skin Disease (NIAMS). A.G.Z. received support from grant T32 CA009110 from the National Cancer Institute. Author Manuscript This is the author manuscript accepted for publication and has undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/BJD.18033 This article is protected by copyright. All rights reserved Conflict of interest disclosures: None declared. Bulleted statements: What’s already known about this topic? Pachyonychia congenita is a rare genodermatosis caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, KRT17, which are normally expressed in skin appendages and induced following injury. Individuals with PC present with multiple clinical symptoms that usually include thickened and dystrophic nails, palmoplantar keratoderma (PPK), glandular cysts, and oral leukokeratosis. -
Clinical Spectrum of Nail Disorders Derma 2020; 3(2): 48-54 Received: 19-05-2020 Accepted: 22-07-2020 Dr
International Journal of Dermatology, Venereology and Leprosy Sciences. 2020; 3(2): 48-54 E-ISSN: 2664-942X P-ISSN: 2664-9411 www.dermatologypaper.com/ Clinical spectrum of nail disorders Derma 2020; 3(2): 48-54 Received: 19-05-2020 Accepted: 22-07-2020 Dr. Kotha Raghupathi Reddy, Dr. Munnaluri Mohan Rao and Dr. Dr. Kotha Raghupathi Reddy Chittla Sravan Associate Professor, Department of DVL, Gandhi DOI: https://doi.org/10.33545/26649411.2020.v3.i2a.46 Medical College, Secunderabad, Telangana, Abstract India Background: The nail disorders comprise approximately 10% of all dermatological conditions. The nail unit may reflect dermatological disorder by its own and may show specific changes that are Dr. Munnaluri Mohan Rao Associate Professor, markers for a wide range of systemic disorders. Department of DVL, Great Aims: To study the clinical spectrums of nail disorders including congenital, developmental, Eastern Medical School and infectious, neoplastic, degenerative, dermatologic and systemic diseases affecting the nail unit. Hospital, Ragolu Srikakulam, Materials and Methods: 200 consecutive cases with nail disorders attending to the Dermatology. Andhra Pradesh, India Complete dermatologic and systemic examinations were carried out. Hematological investigations, including hemoglobin, total leukocyte count, differential leukocyte count and urine examination were Dr. Chittla Sravan carried out in all patients. Assistant Professor, Results: In this study, the involvement of nail was more common among males when compared to Department of DVL, MNR females. Onychomycosis was the commonest finding (27%) followed by psoriatic nail change (14.5%), Medical College and Hospital, Onycholysis (5.5%), Pitting (4.5%), Onychogryphosis (4.5%), Trachyonychia (4.5%), Chronic Sangareddy, Telangana, India Paronychia (4.5%), Clubbing (4%), Subungual Warts (3.5%), Clubbing with resorption of terminal fingers (2.5%) and Ingrowing toe nail (2%). -
Research Article
z Available online at http://www.journalcra.com INTERNATIONAL JOURNAL OF CURRENT RESEARCH International Journal of Current Research Vol. 11, Issue, 12, pp.8946-8949, December, 2019 DOI: https://doi.org/10.24941/ijcr.37495.12.2019 ISSN: 0975-833X RESEARCH ARTICLE SKIN: A WINDOW FOR THYROID DISEASE 1Neethu Mary George, 2,*Amruthavalli Potlapati and 3Narendra Gangaiah 1 Resident, Department of Dermatology, Sri Siddhartha Medical College, Karnataka 2Assistant Professor, Department of Dermatology, Sri Siddhartha Medical College, Karnataka 3Professor and HOD, Department of Dermatology, Sri Siddhartha Medical College, Karnataka ARTICLE INFO ABSTRACT Article History: Introduction: Endocrine conditions form a major bulk of those visiting physicians and most of the Received 24th September, 2019 conditions warrant immediate and long term treatment which otherwise can indirectly affect all the Received in revised form organ systems and adversely affect the ‘health’ of a person. Thyroid diseases are one of the most 28th October, 2019 common endocrinological conditions with varying skin and appandageal manifestations. Skin is an Accepted 15th November, 2019 organ that is visible to naked eyes and can at times show certain manifestations which point to an Published online 31st December, 2019 underlying disease. Unless the clinician has high index of suspicion, such conditions can go undetected. Hence it becomes imperative for clinicians and Dermatologists to have an idea about the Key Words: cutaneous manifestations of endocrinological conditions and hence the study assess the skin Hyperthyroid, Hypothyroid, Cutaneous manifestations in recently detected hyper and hypothyroid patients. Objectives: To evaluate the cutaneous, hair and nail findings and associated conditions in acquired thyroid disorders. Manifestations, Pincer Nail. -
Digital Clubbing
Review Article Digital clubbing Malay Sarkar, D. M. Mahesh1, Irappa Madabhavi2 Department of Pulmonary Medicine, Indira Gandhi Medical College, Shimla, 1Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, 2Post Graduate Student (Medicine), Indira Gandhi Medical College, Shimla, India ABSTRACT Digital clubbing is an ancient and important clinical signs in medicine. Although clubbed fingers are mostly asymptomatic, it often predicts the presence of some dreaded underlying diseases. Its exact pathogenesis is not known, but platelet‑derived growth factor and vascular endothelial growth factor are recently incriminated in its causation. The association of digital clubbing with various disease processes and its clinical implications are discussed in this review. KEY WORDS: Cancer, digital clubbing, hypertrophic osteoarthropathy, megakaryocytes, vascular endothelial growth factor Address for correspondence: Dr. Malay Sarkar, Department of Pulmonary Medicine, Indira Gandhi Medical College, Shimla ‑ 171 001, India. E‑mail: [email protected] INTRODUCTION long bones and occasional painful joint enlargement. It was initially known as hypertrophic pulmonary Digital clubbing is characterized by a focal bulbous osteoarthropathy (HPOA) based on the fact that majority enlargement of the terminal segments of the fingers of cases of HOA are due to malignant thoracic tumors. and/or toes due to proliferation of connective tissue The term “pulmonary” was later abandoned as it was between nail matrix and the distal phalanx. It results in realized that the skeletal syndrome may occur in several increase in both anteroposterior and lateral diameter of non‑pulmonary diseases and even may occur without the nails.[1] Clubbed fingers are also known as watch‑glass any underlying illness. -
NAIL DISEASES and NAIL HEALTH Your Nails Can Tell You a Lot About Your Health
Dermatology Patient Education NAIL DISEASES AND NAIL HEALTH Your nails can tell you a lot about your health. Nail diseases and warning signs of other health problems appear on the nails. Your nails also reveal whether you are taking good care them. Good nail care is important because it can help prevent many common nail problems. NAIL DISEASES The skin around our nails and the tissue beneath are susceptible to many diseases. If you see any of the following, promptly see a dermatologist. Early diagnosis and proper treatment offer the best outcome. If allowed to progress, nail disease can be challenging to treat. Melanoma under the nail • Dark spot or streak Melanoma (skin cancer): Nail streaks are common in people of color. While many nail streaks are harmless, it is important to know that about 30% to 40% of melanomas that occur in people of color develop under a nail. While melanoma under the nail is more common in people of color, anyone can get melanoma under a nail. If your nail has a dark streak or spot and you do not remember injuring the nail, promptly see a dermatologist. When caught early, melanoma can be cured. • Growth Skin cancer: Many different types of skin cancer, including melanoma and Squamous cell carcinoma, can form under or around a nail. If you see a growth under or around your nail, promptly see a dermatologist. Your dermatologist can tell you whether the growth should be removed. Wart: A growth on the skin surrounding a nail is often a wart. Warts are common on the hands and feet. -
A RARE PRESENTATION of INGROWN TOE NAIL *Alagar Samy R
CIBTech Journal of Surgery ISSN: 2319-3875 (Online) An Open Access, Online International Journal Available at http://www.cibtech.org/cjs.htm 2015 Vol. 4 (1) January-April, pp.24-27/Samy Case Report A RARE PRESENTATION OF INGROWN TOE NAIL *Alagar Samy R. ESIC Medical College and Hospital, Coimbatore, Tamilnadu, India *Author for Correspondence ABSTRACT Onychocryptosis or ingrown toenail is a very common pathology of the toenail unit, chiefly affecting adolescents and young adults. The ingrown toenail is responsible for disabling complaints like pain and difficulty in walking. It is associated with significant morbidity, hampering the quality of life as it interferes with sporting activities, school, or work. It principally occurs in the hallux. It is ascribed to poor trimming of the nails in combination with local pressure due to ill-fitting footwear, hyperhidrosis, poor foot hygiene and nail abnormalities. Pain, swelling and discharge are the main clinical features. Four stages of the condition have been described. Diagnosis is usually evident, but it should be differentiated from subungual exostosis and tumors of the nail bed (James et al., 2006). I report a case of in grown toe nail involving right great toe with a swelling in the same toe with occasional pain. There was no history of trauma or any co morbid illness. Hence the right great toe nail with a swelling excised intoto. The Histopathological examination revealed only chronic inflammation. The post operative period was uneventful and discharged on third post operative period. It is being presented for its rarity. Keywords: Onychocryptosis, Hallux, Ingrown, Avulsion INTRODUCTION Onychocryptosis or ingrown toenail is a very common pathology of the toenail unit, chiefly affecting adolescents and young adults. -
Pseudomonas Skin Infection Clinical Features, Epidemiology, and Management
Am J Clin Dermatol 2011; 12 (3): 157-169 THERAPY IN PRACTICE 1175-0561/11/0003-0157/$49.95/0 ª 2011 Adis Data Information BV. All rights reserved. Pseudomonas Skin Infection Clinical Features, Epidemiology, and Management Douglas C. Wu,1 Wilson W. Chan,2 Andrei I. Metelitsa,1 Loretta Fiorillo1 and Andrew N. Lin1 1 Division of Dermatology, University of Alberta, Edmonton, Alberta, Canada 2 Department of Laboratory Medicine, Medical Microbiology, University of Alberta, Edmonton, Alberta, Canada Contents Abstract........................................................................................................... 158 1. Introduction . 158 1.1 Microbiology . 158 1.2 Pathogenesis . 158 1.3 Epidemiology: The Rise of Pseudomonas aeruginosa ............................................................. 158 2. Cutaneous Manifestations of P. aeruginosa Infection. 159 2.1 Primary P. aeruginosa Infections of the Skin . 159 2.1.1 Green Nail Syndrome. 159 2.1.2 Interdigital Infections . 159 2.1.3 Folliculitis . 159 2.1.4 Infections of the Ear . 160 2.2 P. aeruginosa Bacteremia . 160 2.2.1 Subcutaneous Nodules as a Sign of P. aeruginosa Bacteremia . 161 2.2.2 Ecthyma Gangrenosum . 161 2.2.3 Severe Skin and Soft Tissue Infection (SSTI): Gangrenous Cellulitis and Necrotizing Fasciitis. 161 2.2.4 Burn Wounds . 162 2.2.5 AIDS................................................................................................. 162 2.3 Other Cutaneous Manifestations . 162 3. Antimicrobial Therapy: General Principles . 163 3.1 The Development of Antibacterial Resistance . 163 3.2 Anti-Pseudomonal Agents . 163 3.3 Monotherapy versus Combination Therapy . 164 4. Antimicrobial Therapy: Specific Syndromes . 164 4.1 Primary P. aeruginosa Infections of the Skin . 164 4.1.1 Green Nail Syndrome. 164 4.1.2 Interdigital Infections . 165 4.1.3 Folliculitis . -
A Handbook for Practicing the Original Reiki of Usui and Hay Pdf, Epub, Ebook
LIGHT ON THE ORIGINS OF REIKI: A HANDBOOK FOR PRACTICING THE ORIGINAL REIKI OF USUI AND HAY PDF, EPUB, EBOOK Tadao Yamaguchi | 195 pages | 01 Jan 2008 | LOTUS PRESS | 9780914955658 | English | Wisconsin, United States Light on the Origins of Reiki: A Handbook for Practicing the Original Reiki of Usui and Hay PDF Book Transcriptions Revised Romanization yeonggi. Read an excerpt of this book! Parapsychology Death and culture Parapsychology Scientific literacy. Adrenal fatigue Aerotoxic syndrome Candida hypersensitivity Chronic Lyme disease Electromagnetic hypersensitivity Heavy legs Leaky gut syndrome Multiple chemical sensitivity Wilson's temperature syndrome. Learn the basics, get attuned, and develop a solid self-care and meditation practice. Reiki is a Spiritual Discipline. Melissa Fotheringham rated it it was amazing Feb 10, Invest in Yourself. Four Faces is an adventurous survey of a universe that is deeper than science can measure. Learn how to enable JavaScript on your browser. Reiki is a powerful healing energy. Level I and II required. None of these have any counterpart in the physical world. None of the studies in the review provided a rationale for the treatment duration and no study reported adverse effects. More filters. Jack Tips. By spreading the course over 8 or more lessons, you get the time to incorporate the Reiki energy into daily life. Members for A. Master Level. Pseudoscientific healing technique. To see what your friends thought of this book, please sign up. The existence of qi has not been established by medical research. Kathia Munoz rated it really liked it Jan 28, You can learn Reiki so that you can become a conduit for helping others, or you can learn it for your own spiritual development. -
Dr. Keesha Ewers Foreword by Dr
The Woman’s Guide to Reclaiming Emotional Freedom and Vibrant Health Dr. Keesha Ewers Foreword by Dr. Tom O’Bryan www.DrKeesha.com • Solving the Autoimmune Puzzle 1 Bestselling Author of The Autoimmune Fix and the Betrayal Docuseries Praise for Solving the Autoimmune Puzzle “Solving the Autoimmune Puzzle is functional medicine at its best. Dr. Keesha Ewers integrates her wealth of knowledge from behavioral science, Ayurve- dic medicine, and functional medicine to create an easy to use system that gets to the core of real healing. This book is full of practical information and tools that will free all who use it from pain and suffering of any kind, including autoimmune disease.” —Dr. Mark Hyman, New York Times bestselling author of Eat Fat, Get Thin. Director, Cleveland Clinic Center for Functional Medicine. “I applaud Dr. Ewers for bringing to light two very often overlooked root causes for those suffering with autoimmunity: stress and trauma. In her book, Solving the Autoimmune Puzzle: The Woman’s Guide to Reclaiming Emotional Freedom and Vibrant Health, Dr. Ewers dives deep into emotional aspects of those with autoimmunity and shows the reader how to come to peace with themselves and their trauma allowing them to heal from autoimmunity.” —Amy Myers, MD, New York Times bestselling author of The Autoimmune Solution and The Thyroid Connection. “Dr. Keesha Ewers lays out a clear, easy-to-follow roadmap to break free from inflammation and autoimmune disease. Her insightful, well-researched plan uncovers the missing pieces of the autoimmune puzzle and shows how to reverse this century’s greatest health challenge for women.” —JJ Virgin, CNS, CHFS, NYT bestselling author of The Virgin Diet & Sugar Impact Diet “Solving the Autoimmune Puzzle provides you with a straight forward way to understand the root causes of complex diseases of all kinds, including auto- immunity. -
Copyrighted Material
Part 1 General Dermatology GENERAL DERMATOLOGY COPYRIGHTED MATERIAL Handbook of Dermatology: A Practical Manual, Second Edition. Margaret W. Mann and Daniel L. Popkin. © 2020 John Wiley & Sons Ltd. Published 2020 by John Wiley & Sons Ltd. 0004285348.INDD 1 7/31/2019 6:12:02 PM 0004285348.INDD 2 7/31/2019 6:12:02 PM COMMON WORK-UPS, SIGNS, AND MANAGEMENT Dermatologic Differential Algorithm Courtesy of Dr. Neel Patel 1. Is it a rash or growth? AND MANAGEMENT 2. If it is a rash, is it mainly epidermal, dermal, subcutaneous, or a combination? 3. If the rash is epidermal or a combination, try to define the SIGNS, COMMON WORK-UPS, characteristics of the rash. Is it mainly papulosquamous? Papulopustular? Blistering? After defining the characteristics, then think about causes of that type of rash: CITES MVA PITA: Congenital, Infections, Tumor, Endocrinologic, Solar related, Metabolic, Vascular, Allergic, Psychiatric, Latrogenic, Trauma, Autoimmune. When generating the differential, take the history and location of the rash into account. 4. If the rash is dermal or subcutaneous, then think of cells and substances that infiltrate and associated diseases (histiocytes, lymphocytes, mast cells, neutrophils, metastatic tumors, mucin, amyloid, immunoglobulin, etc.). 5. If the lesion is a growth, is it benign or malignant in appearance? Think of cells in the skin and their associated diseases (keratinocytes, fibroblasts, neurons, adipocytes, melanocytes, histiocytes, pericytes, endothelial cells, smooth muscle cells, follicular cells, sebocytes, eccrine