Pili Torti: a Feature of Numerous Congenital and Acquired Conditions
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Turnedhead Adductedhip Truncal Curvature Syndrome
Archives ofDisease in Childhood 1994; 70: 515-519 515 Turned head adducted hip truncal curvature syndrome Arch Dis Child: first published as 10.1136/adc.70.6.515 on 1 June 1994. Downloaded from Chiaki Hamanishi, Seisuke Tanaka Abstract curvature. An epidemiological analysis was One hundred and eight neonates and carried out to determine whether the intra- infants who showed the clinical triad of a uterine environment of these asymmetrically head turned to one side, adduction con- deformed babies had been restricted. The tracture of the hip joint on the occipital clinical course of each feature of the clinical side of the turned head, and truncal cur- triad was also analysed to determine whether vature, which we named TAC syndrome, TAC syndrome is aetiologically related to any were studied. These cases included seven subsequent paediatric disorders. with congenital and five with late infantile dislocations of the hip joint and 14 who developed muscular torticollis. Forty one Patients and methods were among 7103 neonates examined by We studied a total of 108 cases with TAC one of the authors. An epidemiological syndrome. Of them, 41 were among a total analysis confirmed the aetiology of the number of 7103 neonates personally examined syndrome to be environmental. The side by one of the authors (CH) at newborn exami- to which the head was turned and that of nations conducted at hospitals in four cities the adducted hip contracture showed a since 1981. Thirteen were referred neonates. high correlation with the side of the The remaining 54 were among infants aged maternal spine on which the fetus had from 10 days to 3 months who were referred to been lying. -
The Inherited Metabolic Disorders News
The Inherited Metabolic Disorders News Summer 2011 Volume 8 Issue 2 From the Editor I hope everyone is enjoying their summer thus far! Our 8th annual Metabolic Family Day and 7th annual Low In this Issue Protein Cooking Demonstration were once again a huge success. See the section ”What’s New” on page 9 for a full report of the events, as well as pictures. ♦ From the Editor…1 As always, your suggestions and stories are welcome. Please contact me by email: [email protected] or telephone 519-685-8453 if you wish to contribute to the ♦ From Dr. Chitra Prasad…1 newsletter. I hope everyone has a safe and happy summer! ♦ Personal Stories… 2 Janice Little ♦ Featured This Issue … 4 From Dr Chitra Prasad ♦ Suzanne’s Corner… 6 Dear Friends, ♦ What’s New… 8 Hope you all are having a wonderful summer. We had a great metabolic family workshop with around 198 registrants this year. This was truly phenomenal. Thanks to all the team members and ♦ Research & Presentations … 13 the families in the planning committee for doing such a fantastic job. I was really touched when one of our young metabolic patients told her parents that she would like to attend the ♦ How to Make a Donation… 14 metabolic family workshop! Please see some of the highlights of the metabolic workshop in the newsletter for those who could not make it. The speeches by our youth (Sadiq, Leanna and Laura) ♦ Contact Information … 15 were appreciated by everyone. Big thanks to Jill Tosswill (our previous social worker) who coordinated their talks. -
The National Economic Burden of Rare Disease Study February 2021
Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc. -
Neonatal Dermatology Review
NEONATAL Advanced Desert DERMATOLOGY Dermatology Jennifer Peterson Kevin Svancara Jonathan Bellew DISCLOSURES No relevant financial relationships to disclose Off-label use of acitretin in ichthyoses will be discussed PHYSIOLOGIC Vernix caseosa . Creamy biofilm . Present at birth . Opsonizing, antibacterial, antifungal, antiparasitic activity Cutis marmorata . Reticular, blanchable vascular mottling on extremities > trunk/face . Response to cold . Disappears on re-warming . Associations (if persistent) . Down syndrome . Trisomy 18 . Cornelia de Lange syndrome PHYSIOLOGIC Milia . Hard palate – Bohn’s nodules . Oral mucosa – Epstein pearls . Associations . Bazex-Dupre-Christol syndrome (XLD) . BCCs, follicular atrophoderma, hypohidrosis, hypotrichosis . Rombo syndrome . BCCs, vermiculate atrophoderma, trichoepitheliomas . Oro-facial-digital syndrome (type 1, XLD) . Basal cell nevus (Gorlin) syndrome . Brooke-Spiegler syndrome . Pachyonychia congenita type II (Jackson-Lawler) . Atrichia with papular lesions . Down syndrome . Secondary . Porphyria cutanea tarda . Epidermolysis bullosa TRANSIENT, NON-INFECTIOUS Transient neonatal pustular melanosis . Birth . Pustules hyperpigmented macules with collarette of scale . Resolve within 4 weeks . Neutrophils Erythema toxicum neonatorum . Full term . 24-48 hours . Erythematous macules, papules, pustules, wheals . Eosinophils Neonatal acne (neonatal cephalic pustulosis) . First 30 days . Malassezia globosa & sympoidalis overgrowth TRANSIENT, NON-INFECTIOUS Miliaria . First weeks . Eccrine -
Diagnosis and Treatment of Multiple System Atrophy: an Update
ReviewSection Article Diagnosis and Treatment of Multiple System Atrophy: an Update Abstract the common parkinsonian variant (MSA-P) from PD. In his review provides an update on the diagnosis a clinicopathologic study1, primary neurologists (who Tand therapy of multiple system atrophy (MSA), a followed up the patients clinically) identified only 25% of sporadic neurodegenerative disorder characterised MSA patients at the first visit (42 months after disease clinically by any combination of parkinsonian, auto- onset) and even at their last neurological follow-up (74 nomic, cerebellar or pyramidal symptoms and signs months after disease onset), half of the patients were still and pathologically by cell loss, gliosis and glial cyto- misdiagnosed with the correct diagnosis in the other half plasmic inclusions in several brain and spinal cord being established on average 4 years after disease onset. structures. The term MSA was introduced in 1969 Mean rater sensitivity for movement disorder specialists although prior to this cases of MSA were reported was higher but still suboptimal at the first (56%) and last Gregor Wenning obtained an MD at the under the rubrics of striatonigral degeneration, olivo- (69%) visit. In 1998 an International Consensus University of Münster pontocerebellar atrophy, Shy-Drager syndrome and Conference promoted by the American Academy of (Germany) in 1991 and idiopathic orthostatic hypotension. In the late Neurology was convened to develop new and optimised a PhD at the University nineties, |-synuclein immunostaining was recognised criteria for a clinical diagnosis of MSA2, which are now of London in 1996. He received his neurology as the most sensitive marker of inclusion pathology in widely used by neurologists. -
Inherited Neuropathies
407 Inherited Neuropathies Vera Fridman, MD1 M. M. Reilly, MD, FRCP, FRCPI2 1 Department of Neurology, Neuromuscular Diagnostic Center, Address for correspondence Vera Fridman, MD, Neuromuscular Massachusetts General Hospital, Boston, Massachusetts Diagnostic Center, Massachusetts General Hospital, Boston, 2 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology Massachusetts, 165 Cambridge St. Boston, MA 02114 and The National Hospital for Neurology and Neurosurgery, Queen (e-mail: [email protected]). Square, London, United Kingdom Semin Neurol 2015;35:407–423. Abstract Hereditary neuropathies (HNs) are among the most common inherited neurologic Keywords disorders and are diverse both clinically and genetically. Recent genetic advances have ► hereditary contributed to a rapid expansion of identifiable causes of HN and have broadened the neuropathy phenotypic spectrum associated with many of the causative mutations. The underlying ► Charcot-Marie-Tooth molecular pathways of disease have also been better delineated, leading to the promise disease for potential treatments. This chapter reviews the clinical and biological aspects of the ► hereditary sensory common causes of HN and addresses the challenges of approaching the diagnostic and motor workup of these conditions in a rapidly evolving genetic landscape. neuropathy ► hereditary sensory and autonomic neuropathy Hereditary neuropathies (HN) are among the most common Select forms of HN also involve cranial nerves and respiratory inherited neurologic diseases, with a prevalence of 1 in 2,500 function. Nevertheless, in the majority of patients with HN individuals.1,2 They encompass a clinically heterogeneous set there is no shortening of life expectancy. of disorders and vary greatly in severity, spanning a spectrum Historically, hereditary neuropathies have been classified from mildly symptomatic forms to those resulting in severe based on the primary site of nerve pathology (myelin vs. -
Menkes Disease in 5 Siblings
Cu(e) the balancing act: Copper homeostasis explored in 5 siblings Poster with variable clinical course 595 Sonia A Varghese MD MPH MBA and Yael Shiloh-Malawsky MD Objective Methods Case Presentation Discussion v Present a unique variation of v Review literature describing v The graph below depicts the phenotypic spectrum seen in the 5 brothers v ATP7A mutations produce a clinical spectrum phenotype and course in siblings copper transport disorders v Mom is a known carrier of ATP7A mutation v Siblings 1, 2, and 5 follow a more classic with Menkes Disease (MD) v Apply findings to our case of five v There is limited information on the siblings who were not seen at UNC Menke’s course, while siblings 3 and 4 exhibit affected siblings v The 6th sibling is the youngest and is a healthy female infant (not included here) a phenotypic variation Sibling: v This variation is suggestive of a milder form of Background Treatment birth Presentation Exam Diagnostic testing Outcomes Copper Histidine Menkes such as occipital horn syndrome with v Mutations in ATP7A: copper deficiency order D: 16mos residual copper transport function (Menkes disease) O/AD: 1 Infancy/12mos N/A N/A No Brain v Siblings 3 and 4 had improvement with copper v Mutations in ATP7B: copper overload FTT, Seizures, DD hemorrhage supplementation, however declined when off (Wilson disease) O/AD: Infancy/NA D: 13mos supplementation -suggesting residual ATP7A v The amount of residual functioning 2 N/A N/A No FTT, FTT copper transport function copper transport influences disease Meningitis -
Compensation for Occupational Skin Diseases
ORIGINAL ARTICLE http://dx.doi.org/10.3346/jkms.2014.29.S.S52 • J Korean Med Sci 2014; 29: S52-58 Compensation for Occupational Skin Diseases Han-Soo Song1 and Hyun-chul Ryou2 The Korean list of occupational skin diseases was amended in July 2013. The past list was constructed according to the causative agent and the target organ, and the items of that 1 Department of Occupational and Environmental list had not been reviewed for a long period. The revised list was reconstructed to include Medicine, College of Medicine, Chosun University, Gwangju; 2Teo Center of Occupational and diseases classified by the International Classification of Diseases (10th version). Therefore, Environmental Medicine, Changwon, Korea the items of compensable occupational skin diseases in the amended list in Korea comprise contact dermatitis; chemical burns; Stevens-Johnson syndrome; tar-related skin diseases; Received: 19 December 2013 infectious skin diseases; skin injury-induced cellulitis; and skin conditions resulting from Accepted: 2 May 2014 physical factors such as heat, cold, sun exposure, and ionized radiation. This list will be Address for Correspondence: more practical and convenient for physicians and workers because it follows a disease- Han-Soo Song, MD based approach. The revised list is in accordance with the International Labor Organization Department of Occupational and Environmental Medicine, Chosun University Hospital, 365 Pilmun-daero, Dong-gu, list and is refined according to Korean worker’s compensation and the actual occurrence of Gwangju 501-717, Korea occupational skin diseases. However, this revised list does not perfectly reflect the actual Tel: +82.62-220-3689, Fax: +82.62-443-5035 E-mail: [email protected] status of skin diseases because of the few cases of occupational skin diseases, incomplete statistics of skin diseases, and insufficient scientific evidence. -
C.O.E. Continuing Education Curriculum Coordinator
CONTINUING EDUCATION All Rights Reserved. Materials may not be copied, edited, reproduced, distributed, imitated in any way without written permission from C.O. E. Continuing Education. The course provided was prepared by C.O.E. Continuing Education Curriculum Coordinator. It is not meant to provide medical, legal or C.O.E. professional services advice. If necessary, it is recommended that you consult a medical, legal or professional services expert licensed in your state. Page 1 of 199 Click Here To Take Test Now (Complete the Reading Material first then click on the Take Test Now Button to start the test. Test is at the bottom of this page) 5 hr. Nail Structure and Growth & TCSG Health and Safety Outline Why Study Nail Structure and Growth? • The Natural Nail • Nail Anatomy • Nail Growth • Know Your Nails Objectives After completing this section, you should be able to: C.O.E.• Describe CONTINUING the structure and composition of nails. EDUCATION • Discuss how nails grow. • Identify diseases and disorders of the nail All Rights Reserved. Materials may not be copied, edited, reproduced, distributed, imitated in any way without written permission from C.O. E. Continuing Education. The course provided was prepared by C.O.E. Continuing Education Curriculum Coordinator. It is not meant to provide medical, legal or professional services advice. If necessary, it is recommended that you consult a medical, legal or professional services expert licensed in your state. 1 CONTINUING EDUCATION All Rights Reserved. Materials may not be copied, edited, reproduced, distributed, imitated in any way without written permission from C.O. -
Orthopedic-Conditions-Treated.Pdf
Orthopedic and Orthopedic Surgery Conditions Treated Accessory navicular bone Achondroplasia ACL injury Acromioclavicular (AC) joint Acromioclavicular (AC) joint Adamantinoma arthritis sprain Aneurysmal bone cyst Angiosarcoma Ankle arthritis Apophysitis Arthrogryposis Aseptic necrosis Askin tumor Avascular necrosis Benign bone tumor Biceps tear Biceps tendinitis Blount’s disease Bone cancer Bone metastasis Bowlegged deformity Brachial plexus injury Brittle bone disease Broken ankle/broken foot Broken arm Broken collarbone Broken leg Broken wrist/broken hand Bunions Carpal tunnel syndrome Cavovarus foot deformity Cavus foot Cerebral palsy Cervical myelopathy Cervical radiculopathy Charcot-Marie-Tooth disease Chondrosarcoma Chordoma Chronic regional multifocal osteomyelitis Clubfoot Congenital hand deformities Congenital myasthenic syndromes Congenital pseudoarthrosis Contractures Desmoid tumors Discoid meniscus Dislocated elbow Dislocated shoulder Dislocation Dislocation – hip Dislocation – knee Dupuytren's contracture Early-onset scoliosis Ehlers-Danlos syndrome Elbow fracture Elbow impingement Elbow instability Elbow loose body Eosinophilic granuloma Epiphyseal dysplasia Ewing sarcoma Extra finger/toes Failed total hip replacement Failed total knee replacement Femoral nonunion Fibrosarcoma Fibrous dysplasia Fibular hemimelia Flatfeet Foot deformities Foot injuries Ganglion cyst Genu valgum Genu varum Giant cell tumor Golfer's elbow Gorham’s disease Growth plate arrest Growth plate fractures Hammertoe and mallet toe Heel cord contracture -
Abstract Book
Abstract Book First World Conference on Ichthyosis August 31 – September 2, 2007 Münster, Germany Organized by Network for Ichthyoses and related keratinization disorders (NIRK) together with Selbsthilfe Ichthyose e.V. and EU-Coordination Action GENESKIN Contacts: H. Traupe, Münster, Email: [email protected] B. Willis, Münster, Email: [email protected] Barbara Kleinow, Email: [email protected] Geske Wehr, Email: [email protected] Location: Lecture Hall Location:Department of Dermatology University Hospital Von Esmarch-Str. 58 48149 Münster Germany Friday, August 31, 2007 page Workshop on clinical diversity and diagnostic standardization D. Metze, Münster Histopathology of ichthyoses: Clues for diagnostic standardization ..................................... 19 I. Hausser, Heidelberg Ultrastructural characterization of lamellar ichthyosis: A tool for diagnostic standardization 13 H. Verst, Münster The data base behind the NIRK register: a secure tool for genotype/phenotype analysis 34 V. Oji, Münster Classification of congenital ichthyosis ................................................................................... 20 M. Raghunath, Singapore Congenital Ichthyosis in South East Asia ............................................................................. 25 Keratinization disorders and keratins I. Hausser, Heidelberg Ultrastructure of keratin disorders: What do they have in common? ................................... 12 M. Arin, Köln Recent advances in keratin disorders ................................................................................. -
Post-Typhoid Anhidrosis: a Clinical Curiosity
Post-typhoid anhidrosis 435 Postgrad Med J: first published as 10.1136/pgmj.71.837.435 on 1 July 1995. Downloaded from Post-typhoid anhidrosis: a clinical curiosity V Raveenthiran Summary family physician. Shortly after convalescence A 19-year-old girl developed generalised she felt vague discomfort and later recognised anhidrosis following typhoid fever. Elab- that she was not sweating as before. In the past orate investigations disclosed nothing seven years she never noticed sweating in any abnormal. A skin biopsy revealed the part ofher body. During the summer and after presence of atrophic as well as normal physical exercise she was disabled by an eccrine glands. This appears to be the episodic rise of body temperature (41.4°C was third case of its kind in the English recorded once). Such episodes were associated literature. It is postulated that typhoid with general malaise, headache, palpitations, fever might have damaged the efferent dyspnoea, chest pain, sore throat, dry mouth, pathway of sweating. muscular cramps, dizziness, syncope, inability to concentrate, and leucorrhoea. She attained Keywords: anhidrosis, hypohidrosis, sweat gland, menarche at the age of 12 and her menstrual typhoid fever cycles were normal. Hypothalamic functions such as hunger, thirst, emotions, libido, and sleep were normal. Two years before admission Anhidrosis is defined as the inability of the she had been investigated at another centre. A body to produce and/or deliver sweat to the skin biopsy performed there reported normal skin surface in the presence of an appropriate eccrine sweat glands. stimulus and environment' and has many forms An elaborate physical examination ofgeneral (box 1).