NOAH S. SCHEINFELD, JD, MD, FAAD 150 West 55 Street NYC NY 10019

Total Page:16

File Type:pdf, Size:1020Kb

NOAH S. SCHEINFELD, JD, MD, FAAD 150 West 55 Street NYC NY 10019 1 NOAH S. SCHEINFELD, JD, MD, FAAD 150 West 55th Street NYC NY 10019 (212) 991-6490 (Office) (646) 695-1011 (Fax) Employment/Academic & Hospital Appointments th 09/06-now PRIVATE DERMATOLOGY PRACTICE 150 West 55 Street, NYC NY 9/06-8/07 DEPT. OF DERMATOLOGY NEW YORK MEDICAL COLLEGE- METROPOLITIAN HOSPITAL, NYC, NY Attending-Dermatology (part time) 7/01-now DEPT. OF DERMATOLOGY, COLUMBIA UNIVERSITY, NYC, NY Ass’t Clinical Professor (non salaried). 7/01-8/06 full time DEPT. OF DERMATOLOGY, ST-LUKE’S-ROOSEVELT HOSPITAL CENTER 9/06-now voluntary / BETH ISRAEL MEDICAL CENTER, NYEEI. NYC, NY –Ass’t Attending/ Director Dermatology Consultation Service-Beth Israel Med Center/St Lukes Roosevelt Hosp Center. 7/98-6/01 DERM DIV., ALBERT EINSTEIN COL. MED., Bronx, NY-Dermatology Resident 7/97-6/98 SAINT VINCENTS MEDICAL CENTER, NYC, NY-Medical Intern 2/92-8/93 LAW FIRM OF DAVID SCHEINFELD, NYC, NY-Associate Attorney 9/89-1/92 JONES DAY REAVIS & POGUE, NYC, NY-Associate Attorney Education 9/03-08/04 ACKERMAN ACADEMY OF DERMATOPATHOLOGY. NYC NY-Fellowship (part time) 8/93-5/97 YALE SCHOOL OF MEDICINE, New Haven CT- M.D. 1997 Researched signal transduction in Yale Department of Dermatology; Member, Human Investigation Committee of Yale Medical School. Thesis-“The Legal Duties of Patients To Doctors” 9/86-6/89 HARVARD LAW SCHOOL, Cambridge MA-J.D. 1989 Book review editor, Journal of Law & Public Policy; Pre-law tutor & U.S. history teaching assistant, Harvard College; Mediator small claims court. Thesis-“Copyright Law and the Berne Convention” 9/85-5/86 COLUMBIA UNIVERSITY, NYC NY-M.A. history (pending) 1986 Thesis-“Organized Labor & Immigration 1945-65” 9/82-5/85 COLUMBIA COLLEGE, NYC NY-B.A. history 1985 magna cum laude (graduated in 3 years) Phi Beta Kappa, Harry J. Carman Fellow-(Columbia GSAS Fellowship), Lehman Fellow-(NYS Fellowship), Dean’s List (all semesters) Board Certification Dermatology (12/00), Pediatric Dermatology (11/06)-American Board of Dermatology Licensure N.Y.S Medical License # 211528 Assistant Editor:Skinmed, Emedicine, Skin & Aging, Amer J Clinical Derm, J Derm Therapy, Cortlandt Forum, Clinics in Dermatology Associate Editor: Cutis, Journal of Drugs in Dermatology, Dermatology Online Journal Columnist: Skin & Aging (Law), Skinmed (Medical Therapy), J of Drugs in Dermatology (Schools in Pharmacology) 2 Noah Scheinfeld MD JD, Peer Reviewed Journal Publications 1. Cheng A, Scheinfeld NS, McDowell B, Dokras AA. Warfarin skin necrosis in a postpartum woman. Obstetrics & Gynec. 1997;90:671-2 2. Scheinfeld NS, Cohen SR. Varicella causes skin pits and keloids Pediatrics. 2000;106:160. 3. Scheinfeld NS, Teplitz E, McClain SA. Crohn’s disease & lichen nitidus. Inflammatory Bowel Dis. 2001;7:314-8. 4. Scheinfeld NS, Libkind M, Freilich S. New onset ichthyosis and diabetes in a 14 year old. Ped Dermatol. 2001;18:501-3. 5. Scheinfeld NS, Tarlow MM, Burgin S. Blaschkoid eccrine spiradenomas. Cutis. 2002;70:73-5. 6. Tutrone WD, Scheinfeld NS, Weinberg JM. Cutaneous anthrax: Cutis. 2002;69:27-33. 7. Scheinfeld NS, Howe KL, DiCostanzo DP, Craig E, Cohen S. Pemphigus erythematosus with multiple autoantibodies. Cutis. 2003;71:303-6. 8. Scheinfeld NS. Evaluating Digital Photography to perform dermatology consultations. SkinMed. 2003;2;13-19. 9. Rahman Z, Scheinfeld N. Minocycline hypersensitivity syndrome with rhabdomyolysis.. Int J Dermatol. 2002:41:530-1. 10. Scheinfeld N. The new antihistamines-desloratadine and levocetirizine. J Drug Dermatol. 2002;1:311-14. 11. Scheinfeld N, Pollack MJ, McNiff JM, Imaeda S, Sinha AA. Two men with toxic shock syndrome. Acta Dermato- Venereol. 2002;82:449-452. 12. Scheinfeld NS et al. Macrolides in dermatology. Clin Dermatol. 2003;21:40-9. 13. Weinberg JM, Scheinfeld NS. Cutaneous infections in the elderly. Dermatol Ther. 2003;16:195-205. 14. Scheinfeld N. Dissecting Cellulitis: A Review. Dermatol Online J. 2003;9(1):8. 15. Scheinfeld N. Cimetidine: A review of the recent developments. Dermatol Online J. 2003;9(2):4. 16. Scheinfeld N, Ross B. Antibiotic prophylaxis guideline awareness. Dermatol Surg. 2002;28:841-4. 17. Scheinfeld N, Wesson K, Perry P, Weinberg J. Acute Generalized Pustulosis resembling TEN. Acta Dermato- Venereol. 2002;83:176. 18. Scheinfeld NS, Flanigan K, Moshiyakhov M, Weinberg JM. Trends in the use of cameras and computer technology among dermatologists in New York City 2001-2002. Dermatol Surg. 2003;29:822-6. 19. Kokoszka A, Scheinfeld N. Evidence-based review of the use of cryosurgery in treatment of basal cell carcinoma. Dermatol Surg. 2003;29:566-71. 20. Scheinfeld N. Adalimumab (HUMIRA): a review. J Drugs Dermatol. 2003;2:375-7. 21. Scheinfeld N. Getting started with evidence-based research. Dermatol Surg. 2003;29:572. 22. Rotunda A, Hirsch R, Scheinfeld N, Weinberg JM. Cutaneous HIV medication reactions. Acta Dermato-Venereol. 2003;83:1-9. 23. Scheinfeld N. Phenytoin in cutaneous medicine: its uses, mechanisms and side effects. Dermatol Online J. 2003;9(3):6. 24. Scheinfeld N, Hu G, Gill M, Austin C, Celebi JT. Identification of a recurrent mutation in the CYLD gene in Brooke-Spiegler syndrome. Clin Exp Dermatol. 2003;28:539-41. 25. Yu TC, Kelly S, Weinberg J, Scheinfeld NS. Isolated lichen planus of the lower lip. Cutis. 2003;7:210-2. 26. Scheinfeld N. Diffuse ulcerations due to histoplasmosis in a patient with HIV. J Drugs Dermatol. 2003;2:189-91. 27. Scheinfeld N. A case of co-incident PKU, Pemphigus and Tinea Amiantacea: J Drugs Dermatol. 2003;2:202-5. 28. Tutrone WD, Spann C, Scheinfeld N, Deleo VA. Polymorphic light eruption. Dermatol Ther. 2003;16:28-39. 29. Scheinfeld NS. Trachyonychia: a case report and review. Cutis. 2003;71:299-302. 30. Scheinfeld N. Superinfection of eczema with Acinetobacter. Acta Derm Venereol. 2003;83:143. 31. Scheinfeld N. The role of gabapentin in treating diseases with cutaneous manifestations. Int J Dermatol. 2003;42:491-5. 32. Spann CT, Weinberg JM, Scheinfeld N, Ross B. Topical antibacterial agents. Dermatol Surg. 2003;29:620-6. 33. Scheinfeld NS, Weinberg JM, DeLeo VA. Phototherapy of atopic dermatitis. Clin Dermatol. 2003;21:241-8. 34. Scheinfeld N. Fatal fulminant hypereosinophilic syndrome with a petechial rash in a 16-year-old girl. J Pediatr Hematol Oncol. 2003;25:827-30. 35. Weinberg JM, Scheinfeld NS. Cutaneous infections in the elderly: diagnosis and management. Dermatol Ther. 2003;16:195-205. 36. Schweiger ES, Scheinfeld NS, Tischler HR, Weinberg JM. Linezolid and quinupristin/dalfopristin: novel antibiotics for gram-positive infections of the skin. J Drugs Dermatol. 2003;2:378-83. 3 37. Scheinfeld NS. Isolated HSV-2 on the Helix Manifesting as a Single Large Vesicle in a Healthy Woman. Acta Dermato- Venereol. 2003:83;378-379. 38. Scheinfeld NS, Worth R, Mallea J, Shookster L, Weinberg JM. Subcorneal Pustular Dermatosis. Skinmed. 2003;2:258-9. 39. Scheinfeld N, Fisher M, Genis P, Long H. Evaluating Patient Acceptance of a Teledermatology Link. Skinmed. 2003;2:159-167. 40. Rosenberg J, Scheinfeld NS. Histoplasmosis: A Case Report & Review. Cutis. 2003;72:439-45. 41. Scheinfeld NS, DiCostanzo DD, Cohen SR. Reticulate and stellate acral pigmentation associated with systemic lupus erythematosus. J Drugs Dermatol. 2003;2:674-6. 42. Scheinfeld N. Delusions of parasitiosis. Skinmed. 2003;2:376-8. 43. Scheinfeld N. The law on failure to treat pain. Ostomy Wound Manage. 2004;50:9-10. 44. Scheinfeld N Syndromic albinism: A review of genetics and phenotypes. Dermatol Online J. 2003;9(5)5 45. Scheinfeld N, Deleo V. A review of studies that have utilized different combinations of psoralen and ultraviolet B phototherapy and ultraviolet A phototherapy. Dermatology Online Journal 2004;9(5)7. 46. Scheinfeld N, Yu T, Lee J. Verrucous hyperplasia of the great toe: a case and a review of the literature. Dermatol Surg. 2004;30:215-7. 47. Scheinfeld NS. Picaridin: A new insecticide. J Drug Dermatol. 2004;3:59-60. 48. Scheinfeld N. Controlling scabies in institutional settings: a review of medications, treatment models, and implementation. Am J Clin Dermatol. 2004;5:31-7. 49. Scheinfeld N. Kaposi's sarcoma mimicking a facial cyst as the presenting sign of human immunodeficiency virus. Skinmed. 2004;3:109-11. 50. Weinberg JM, Vafaie J, Scheinfeld NS. Skin infections in the elderly. Dermatol Clin North Am. 2004;22:51-61. 51. Scheinfeld N, Yu T, Weinberg J, Gordon M, Silapunt S, Norman RA, Alam M. Cutaneous oncologic and cosmetic surgery in geriatric patients. Dermatol Clin North Am. 2004;22:97-113. 52. Scheinfeld N. Photographic images, digital imaging, dermatology, & the law. Arch Dermatol. 2004;140:473-6. 53. Scheinfeld N, Rosenberg JD, Weinberg JM. Levamisole in dermatology: a review. Am J Clin Dermatol. 2004;5:97-104. 54. Scheinfeld N. Pseudofolliculitis barbae. Skinmed. 2004 ;3:165-6. 55. Scheinfeld N. HIPAA and wound care. Ostomy Wound Manage. 2004;50:28. 56. Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. The preauricular sinus: a review of its clinical presentation, treatment, and associations. Pediatr Dermatol. 2004;21:191-6. 57. Scheinfeld N. Off-label uses and side effects of infliximab. J Drugs Dermatol. 2004;3:273-84. 58. Scheinfeld N, Spahn C. Palmar erythema due to topiramate. J Drugs Dermatol. 2004;3:321-2. 59. Ellis E, Scheinfeld N. Eosinophilic pustular folliculitis: a comprehensive review of treatment options. Am J Clin Dermatol. 2004;5:189-97. 60. Scheinfeld N. HIPAA for the wound care team: penalties, enforcement, and plans for compliance. Ostomy Wound Manage. 2004;50:21. 61. Scheinfeld NS, Mikhail M. Common diseases/treatment options: treatment options for psoriasis part 1: topical treatments. Skinmed. 2004;3:225-7. 62. Weinberg JM, Scheinfeld N, Tishler HR. Granuloma annulare restricted to Becker's naevus.
Recommended publications
  • Orphanet Report Series Rare Diseases Collection
    Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic
    [Show full text]
  • Chediak‑Higashi Syndrome in Three Indian Siblings
    Case Report Silvery Hair with Speckled Dyspigmentation: Chediak‑Higashi Access this article online Website: Syndrome in Three Indian Siblings www.ijtrichology.com Chekuri Raghuveer, Sambasiviah Chidambara Murthy, DOI: Mallur N Mithuna, Tamraparni Suresh 10.4103/0974-7753.167462 Quick Response Code: Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India ABSTRACT Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent Address for correspondence: respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and Dr. Chekuri Raghuveer, silvery hair since early childhood. Clinical features, laboratory investigations, hair microscopy, Department of Dermatology and skin biopsy findings were consistent with CHS. Her younger sisters aged 4 and 2 years and Venereology, Vijayanagara had similar clinical, peripheral blood picture, and hair microscopy findings consistent with Institute of Medical Sciences, CHS. This case is reported for its rare occurrence in all the three siblings of the family, prominent pigmentary changes, and absent accelerated phase till date. Awareness, early Bellary ‑ 583 104, recognition, and management of the condition may prevent the preterm morbidity associated. Karnataka, India. E‑mail: c_raghuveer@ yahoo.com Key words: Partial albinism, primary immunodeficiency, silvery hair syndrome INTRODUCTION frontal scalp, eyebrows, eyelashes [Figure 1], and ocular pigmentary dilution was present. Other systems including hediak‑Higashi syndrome (CHS) is a rare, autosomal neurological findings were normal.
    [Show full text]
  • Blueprint Genetics Bone Marrow Failure Syndrome Panel
    Bone Marrow Failure Syndrome Panel Test code: HE0801 Is a 135 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of inherited bone marrow failure syndromes. The genes on this panel are included in the Comprehensive Hematology Panel. About Bone Marrow Failure Syndrome Inherited bone marrow failure syndromes (IBMFS) are a diverse set of genetic disorders characterized by the inability of the bone marrow to produce sufficient circulating blood cells. Bone marrow failure can affect all blood cell lineages causing clinical symptoms similar to aplastic anemia, or be restricted to one or two blood cell lineages. The clinical presentation may include thrombocytopenia or neutropenia. Hematological manifestations may be accompanied by physical features such as short stature and abnormal skin pigmentation in Fanconi anemia and dystrophic nails, lacy reticular pigmentation and oral leukoplakia in dyskeratosis congenita. Patients with IBMFS have an increased risk of developing cancer—either hematological or solid tumors. Early and correct disease recognition is important for management and surveillance of the diseases. Currently, accurate genetic diagnosis is essential to confirm the clinical diagnosis. The most common phenotypes that are covered by the panel are Fanconi anemia, Diamond-Blackfan anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and WAS-related disorders. Availability 4 weeks Gene Set Description Genes in the Bone Marrow Failure Syndrome Panel and their clinical significance
    [Show full text]
  • Moecular and Genetic Insights On
    MOECULAR AND GENETIC INSIGHTS ON OCULOCUTANEOUS ALBINISM A thesis submitted to Bahauddin Zakariya University In Partial Fulfillment of the Requirement for the Degree of DOCTOR OF PHILOSOPHY IN MOLECULAR BIOLOGY & BIOTECHNOLOGY By TASLEEM KAUSAR September 2013 INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY BAHAUDDIN ZAKARIYA UNIVERSITY MULTAN, PAKISTAN I lovingly Dedicate To My FAMILY For their endless support, love and encouragement TABLE OF CONTENTS Title Page No. Dedication i Certificate from the Supervisor ii Supervisory Board iii Contents vi List of Tables vii List of Figures vii Acknowledgements xi Summery xii CHAPTER: 1 LITERATURE REVIEW 01 Section 1: Brief overview of Albinism 01 1.1 Brief overview of albinism 01 1.2 Inheritance pattern 01 1.2.1 Dominant OCA 02 1.2.2 Recessive OCA 02 1.2.3 X-linked recessive inheritance 02 1.3 Types of Oculocutaneous Albinism 02 1.4 Risk Factors 07 1.5 Clinical description 07 1.6 Symptoms 08 1.6.1 General Signs and Symptoms 08 1.6.2 Clinical presentation of various types of OCA 09 1.7 Diagnostic methods 11 1.7.1 Prenatal DNA testing 11 1.8 Complications 12 1.9 Melanin 13 1.9.1 Melanin localization in the cell 14 1.9.2 Types of Melanin 14 1.9.3 Stages of melanin synthesis 14 1.9.4 Melanin physiology 15 1.9.5 Hormone regulation 16 1.9.6 Melanin synthesis pathway 16 1.9.7 Tyrosinase enzyme 17 Section 2: Molecular and genetic characterization of OCA 18 1.10 Historic Overview 18 1.11 Epidemiology 19 1.12 Molecular description of OCA types 20 1.13 Syndromes associated with OCA 23 1.13.1 Hermansky–Pudlak
    [Show full text]
  • Wo 2009/039966 A2
    (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date PCT (10) International Publication Number 2 April 2009 (02.04.2009) WO 2009/039966 A2 (51) International Patent Classification: (74) Agent: ARTH, Hans-Lothar; ABK Patent Attorneys, Jas- A61K 38/17 (2006.01) A61P 11/00 (2006.01) minweg 9, 14052 Berlin (DE). A61K 38/08 (2006.01) A61P 25/28 (2006.01) A61P 31/20 (2006.01) A61P 31/00 (2006.01) (81) Designated States (unless otherwise indicated, for every A61P 3/00 (2006.01) A61P 35/00 (2006.01) kind of national protection available): AE, AG, AL, AM, A61P 9/00 (2006.01) A61P 37/00 (2006.01) AO, AT,AU, AZ, BA, BB, BG, BH, BR, BW, BY,BZ, CA, CH, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, (21) International Application Number: EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, PCT/EP2008/007500 IL, IN, IS, JP, KE, KG, KM, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY,MA, MD, ME, MG, MK, MN, MW, (22) International Filing Date: MX, MY,MZ, NA, NG, NI, NO, NZ, OM, PG, PH, PL, PT, 9 September 2008 (09.09.2008) RO, RS, RU, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY,TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, (25) Filing Language: English ZW (26) Publication Language: English (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, (30) Priority Data: GM, KE, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, ZM, 07017754.8 11 September 2007 (11.09.2007) EP ZW), Eurasian (AM, AZ, BY, KG, KZ, MD, RU, TJ, TM), European (AT,BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, (71) Applicant (for all designated States except US): MONDO- FR, GB, GR, HR, HU, IE, IS, IT, LT,LU, LV,MC, MT, NL, BIOTECH LABORATORIES AG [LLLI]; Herrengasse NO, PL, PT, RO, SE, SI, SK, TR), OAPI (BF, BJ, CF, CG, 21, FL-9490 Vaduz (LI).
    [Show full text]
  • Refractory Seizure in a Patient with Griscelli Syndrome: a Unique Case with One Mutation and a Novel Deletion
    Open Access Case Report DOI: 10.7759/cureus.14402 Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion Juan Fernando Ortiz 1, 2 , Samir Ruxmohan 3 , Ivan Mateo Alzamora 4 , Amrapali Patel 5 , Ahmed Eissa- Garcés 1 1. Neurology, Universidad San Francisco de Quito, Quito, ECU 2. Neurology, Larkin Community Hospital, Miami, USA 3. Neurology, Larkin Community Hospital, Miami, Florida, USA 4. Medicine, Universidad San Francisco de Quito, Quito, ECU 5. Public Health, George Washington University, Washington, USA Corresponding author: Juan Fernando Ortiz, [email protected] Abstract Griscelli syndrome (GS) is a rare syndrome characterized by hypopigmentation, immunodeficiency, and neurological features. The genes Ras-related protein (RAB27A) and Myosin-Va (MYO5A) are involved in this condition's pathogenesis. We present a GS type 1 (GS1) case with developmental delay, hypotonia, and refractory seizures despite multiple medications, which included clobazam, cannabinol, zonisamide, and a ketogenic diet. Lacosamide and levetiracetam were added to the treatment regimen, which decreased the seizures' frequency from 10 per day to five per day. The patient had an MYO5A mutation and, remarkably, a deletion on 18p11.32p11.31. The deletion was previously reported in a patient with refractory seizures and developmental delay. We reviewed all cases of GS that presented with seizures. We reviewed other cases of GS and seizures described in the literature and explored possible seizure mechanisms in GS. Seizure in GS1 seems to be related directly to the MYO5A mutation. The neurological manifestations in GS2 seem to be caused indirectly by the accelerated phase of Hemophagocytic syndrome (HPS), which is characteristic of GS2.
    [Show full text]
  • 2019 NMWC TCT Materials
    Not for publication or presentation A G E N D A CIBMTR WORKING COMMITTEE FOR PRIMARY IMMUNE DEFICIENCIES, INBORN ERRORS OF METABOLISM AND OTHER NON-MALIGNANT MARROW DISORDERS Houston, Texas Friday, February 22, 2019, 12:15pm – 2:15pm Co-Chair: Christopher Dvorak, MD, University of California San Francisco Medical Center, San Francisco, CA; Telephone: 415-476-2188; E-mail: [email protected] Co-Chair: Jaap Jan Boelens, MD, PhD, Memorial Sloan Kettering Cancer Center, New York, NY; Telephone: 212-639-3641; E-mail: [email protected] Co-Chair: Vikram Mathews, MD, DM, MBBS, Christian Medical College Hospital, Vellore, India; Telephone: +011 91 416 228 2891; E-mail: [email protected] Scientific Director: Mary Eapen, MBBS, MS, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-805-0700; E-mail: [email protected] Statistical Director: Soyoung Kim, PhD, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-955-8271; E-mail: [email protected] Statistician: Kyle Hebert, MS, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-805-0673; E-mail: [email protected] 1. Introduction a. Minutes and Overview Plan from February 2018 meeting (Attachment 1) b. Introduction of incoming Co-Chair: Andrew Gennery, MD; Newcastle General Hospital / The Royal Victoria Infirmary; Email: [email protected] 2. Accrual summary (Attachment 2) 3. Presentations, published or submitted papers a. NM16-01 Rice C, Eikema DJ, Marsh JCW, Knol C, Hebert K, Putter H, Peterson E, Deeg HJ, Halkes S, Pidala J, Anderlini P, Tischer J, Kroger N, McDonald A, Antin JH, Schaap NP, Hallek M, Einsele H, Mathews V, Kapoor N, Boelens JJ, Mufti GJ, Potter V, Pefault de la Tour R, Eapen M, Dufour C.
    [Show full text]
  • Turkderm 45 Sup 2 122 1
    122 Sürekli Eğitim Continuing Medical Education DOI: 10.4274/turkderm.45.s21 Vitiligo Dışı Hipopigmentasyon Bozuklukları Hypopigmented Disorders Except Vitiligo Asena Çiğdem Doğramacı Mustafa Kemal Üniversitesi Tıp Fakültesi, Deri ve Zührevi Hastalıklar Anabilim Dalı, Hatay, Türkiye Özet Çocuklardaki hipopigmentasyon bozuklukları çeşitli konjenital ve edinsel hastalıklara bağlı olarak ortaya çıkabilir. Bu hipopigmente lezyonlar yaygınlıklarına göre generalize ve lokalize olmak üzere iki gruba ayrılabilir. Klinik bulgulardaki farklılıklar, pigment kaybının derecesi, ilişkili morfolojik bulgular hastalıkların ayrımında kullanılan önemli göstergelerdir. Bu derlemede çocuklarda hipopigmentasyon ile seyreden vitiligo dışındaki deri hastalıkları irdelenmektedir. (Türk derm 2011; 45 Özel Sayı 2: 122-6) Anah tar Ke li me ler: Hipopigmentasyon, çocuk, vitiligo dışı Sum mary Hypopigmentation disorders in children can be due to a wide variety of congenital and acquired diseases. They can be classified on the basis of lesion extent, and can generally be divided into disorders with localized or generalized lesions. Clinical findings, comprising the degree of pigment loss and associated morphological findings are used to further distinguish the disorders. This review deals with skin diseases with hypopigmentation other than vitiligo as the main clinical presenting feature in children. (Turk - derm 2011; 45 Suppl 2: 122-6) Key Words: Hypopigmentation, pediatric, other than vitiligo Gi rifl ise göz, deri ve saçın pigmentasyonunda yaygın bir azalmayla
    [Show full text]
  • Blueprint Genetics Comprehensive Hematology and Hereditary Cancer
    Comprehensive Hematology and Hereditary Cancer Panel Test code: HE1401 Is a 348 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of hematological disorder with genetic predisposition to malignancies. This panel is designed to detect heritable germline mutations and should not be used for the detection of somatic mutations in tumor tissue. Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). Is not recommended for patients with a suspicion of severe Hemophilia A if the common inversions are not excluded by previous testing. An intron 22 inversion of the F8 gene is identified in 43%-45% individuals with severe hemophilia A and intron 1 inversion in 2%-5% (GeneReviews NBK1404; PMID:8275087, 8490618, 29296726, 27292088, 22282501, 11756167). This test does not detect reliably these inversions. Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). About Comprehensive Hematology and Hereditary Cancer Inherited hematological diseases are a group of blood disorders with variable clinical presentation. Many of them predispose to malignancies and for example patients with inherited bone marrow failure syndromes (Fanconi anemia) have a high risk of developing cancer, either leukemia or solid tumors.
    [Show full text]
  • Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
    92 Pulkkinen, Ringpfeil, and Uitto JAM ACAD DERMATOL JULY 2002 Table I. Genodermatoses with known gene defects Reference Disease Mutated gene* Affected protein/function No.† Epidermal fragility disorders DEB COL7A1 Type VII collagen 6 Junctional EB LAMA3, LAMB3, ␣3, ␤3, and ␥2 chains of laminin 5, 6 LAMC2, COL17A1 type XVII collagen EB with pyloric atresia ITGA6, ITGB4 ␣6␤4 Integrin 6 EB with muscular dystrophy PLEC1 Plectin 6 EB simplex KRT5, KRT14 Keratins 5 and 14 46 Ectodermal dysplasia with skin fragility PKP1 Plakophilin 1 47 Hailey-Hailey disease ATP2C1 ATP-dependent calcium transporter 13 Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 Keratins 1 and 10 46 Ichthyosis hystrix KRT1 Keratin 1 48 Epidermolytic PPK KRT9 Keratin 9 46 Nonepidermolytic PPK KRT1, KRT16 Keratins 1 and 16 46 Ichthyosis bullosa of Siemens KRT2e Keratin 2e 46 Pachyonychia congenita, types 1 and 2 KRT6a, KRT6b, KRT16, Keratins 6a, 6b, 16, and 17 46 KRT17 White sponge naevus KRT4, KRT13 Keratins 4 and 13 46 X-linked recessive ichthyosis STS Steroid sulfatase 49 Lamellar ichthyosis TGM1 Transglutaminase 1 50 Mutilating keratoderma with ichthyosis LOR Loricrin 10 Vohwinkel’s syndrome GJB2 Connexin 26 12 PPK with deafness GJB2 Connexin 26 12 Erythrokeratodermia variabilis GJB3, GJB4 Connexins 31 and 30.3 12 Darier disease ATP2A2 ATP-dependent calcium 14 transporter Striate PPK DSP, DSG1 Desmoplakin, desmoglein 1 51, 52 Conradi-Hu¨nermann-Happle syndrome EBP Delta 8-delta 7 sterol isomerase 53 (emopamil binding protein) Mal de Meleda ARS SLURP-1
    [Show full text]
  • 1, Introduction Introduction
    1, Introduction Introduction History of research on human pigmentation although can be traced back to 2200 BC, the quest for understanding the mechanism of various aspects of pigmentation still continues. There is no doubt that the visual impressions of body form and color are important in the interactions within and between human communities. Further a number of diseases or malformations are known to be associated with various pigmentory disorders. Thus this area of research is of tremendous importance. In biology, a pigment is any material resulting in color of plant or animal cells, which is the result of selective color absorption. Many biological structures, such as skin, eyes, fur and hair contain pigments (such as melanin) in specialized cells called chromatophores. Study of pigmentation patterns provides a model system to study genetic as well as phenotypic variations as it provides a manifestation of the complex interplay between environmental cues, signal transduction pathways, several modifications at transcriptional- protein level. Thus pigment genes were "pioneers" for the exploration of mouse genetics leading to the identification of 127 different loci of which 63 different genes have been charaterised so far (Silvers 1979; Bennett and Lamourex, 2003; Getting 2005). A summary of the location and function of important genes in melanogenesis identified till date is presented in table 1. Introduction Mouse Coat Human Human Mutation/ Protein Function Colour Locus Chromosome Phenotype Melanosome proteins Oxidation of tyrosine,
    [Show full text]
  • NIH Public Access Author Manuscript Annu Rev Genomics Hum Genet
    NIH Public Access Author Manuscript Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2009 October 1. NIH-PA Author ManuscriptPublished NIH-PA Author Manuscript in final edited NIH-PA Author Manuscript form as: Annu Rev Genomics Hum Genet. 2008 ; 9: 359±386. doi:10.1146/annurev.genom.9.081307.164303. Disorders of Lysosome-related Organelle Biogenesis: Clinical and Molecular Genetics Marjan Huizing1, Amanda Helip-Wooley2, Wendy Westbroek2, Meral Gunay-Aygun2, and William A. Gahl2 Marjan Huizing: [email protected]; Amanda Helip-Wooley: [email protected]; Wendy Westbroek: [email protected]; Meral Gunay-Aygun: [email protected]; William A. Gahl: [email protected] 1 Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892 2 Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 Abstract Lysosome-related organelles (LROs) are a heterogeneous group of vesicles that share various features with lysosomes, but are distinct in function, morphology, and composition. The biogenesis of LROs employs a common machinery, and genetic defects in this machinery can affect all LROs or only an individual LRO, resulting in a variety of clinical features. In this review, we discuss the main components in LRO biogenesis. We also address the function, composition and resident cell type of the major LROs. Finally, we describe the clinical characteristics of the major human LRO disorders. Keywords Chediak-Higashi syndrome; Griscelli syndrome; Hermansky-Pudlak syndrome; melanosome; platelet INTRODUCTION Lysosomes are membrane-bound cytoplasmic organelles that serve as major degradative compartments in eukaryotic cells (65).
    [Show full text]