Skip to main content

Advertisement

Articles

Page 43 of 46

  1. Kaposi sarcoma is a low-grade mesenchymal tumor involving blood and lymphatic vessels. There are four variants of this disease, each presenting a different clinical manifestation: classic or sporadic, African ...

    Authors: Taisa Davaus Gasparetto, Edson Marchiori, Sílvia Lourenço, Gláucia Zanetti, Alberto Domingues Vianna, Alair ASMD Santos and Luiz Felipe Nobre

    Citation: Orphanet Journal of Rare Diseases 2009 4:18

    Content type: Review

    Published on:

  2. Patent arterial duct (PAD) is a congenital heart abnormality defined as persistent patency in term infants older than three months. Isolated PAD is found in around 1 in 2000 full term infants. A higher prevale...

    Authors: Jonathan T Forsey, Ola A Elmasry and Robin P Martin

    Citation: Orphanet Journal of Rare Diseases 2009 4:17

    Content type: Review

    Published on:

  3. This case report describes for the first time acute coronary syndrome in a 67-year old patient after oral intake of naratriptan for migraine. So far in the literature, only sumatriptan, zolmitriptan and frovat...

    Authors: Claudia R Weder and Markus Schneemann

    Citation: Orphanet Journal of Rare Diseases 2009 4:15

    Content type: Case Report

    Published on:

  4. We report a patient who presented with inflammatory back pain due to multisegmental spondylitis. Following a vertebral biopsy which failed to detect an infectious organism, the patient was treated with etanerc...

    Authors: David Spoerl, Diego Bär, Julian Cooper, Thomas Vogt, Alan Tyndall and Ulrich A Walker

    Citation: Orphanet Journal of Rare Diseases 2009 4:13

    Content type: Case Report

    Published on:

  5. AATD is one of the most common inherited disorders in the World. However, it is generally accepted that AATD in North African populations is not a risk factor for lung and/or liver disease, based on a number o...

    Authors: Sabri Denden, Michele Zorzetto, Fethi Amri, Jalel Knani, Stefania Ottaviani, Roberta Scabini, Marina Gorrini, Ilaria Ferrarotti, Ilaria Campo, Jemni Ben Chibani, Amel Haj Khelil and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2009 4:12

    Content type: Research

    Published on:

  6. Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, an...

    Authors: Reha M Toydemir and Michael J Bamshad

    Citation: Orphanet Journal of Rare Diseases 2009 4:11

    Content type: Review

    Published on:

  7. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, which rapidly leads to chronic respiratory failure requiring mechanical ventilation. Currently, forced vital capacity (FVC) < 50% is consider...

    Authors: Pierluigi Carratù, Lucia Spicuzza, Anna Cassano, Mauro Maniscalco, Felice Gadaleta, Donato Lacedonia, Cristina Scoditti, Ester Boniello, Giuseppe Di Maria and Onofrio Resta

    Citation: Orphanet Journal of Rare Diseases 2009 4:10

    Content type: Research

    Published on:

  8. Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 bi...

    Authors: Teresa Mattina, Concetta Simona Perrotta and Paul Grossfeld

    Citation: Orphanet Journal of Rare Diseases 2009 4:9

    Content type: Review

    Published on:

  9. Dengue hemorrhagic fever is an acute infectious disease caused by dengue virus. We described the high-resolution CT findings in a 70-year-old male with the disease, which was diagnosed by clinical examination ...

    Authors: Edson Marchiori, José LuizN Ferreira, Carolina N Bittencourt, César AdeAraújo Neto, Gláucia Zanetti, Cláudia M Mano, Alair ASD Santos and Alberto D Vianna

    Citation: Orphanet Journal of Rare Diseases 2009 4:8

    Content type: Case Report

    Published on:

  10. The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vog...

    Authors: Gordon K Klintworth

    Citation: Orphanet Journal of Rare Diseases 2009 4:7

    Content type: Review

    Published on:

  11. Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symp...

    Authors: Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet and Agnès Bloch-Zupan

    Citation: Orphanet Journal of Rare Diseases 2009 4:6

    Content type: Research

    Published on:

  12. Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of ...

    Authors: Zornitza Stark and Ravi Savarirayan

    Citation: Orphanet Journal of Rare Diseases 2009 4:5

    Content type: Review

    Published on:

  13. Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient and on the ...

    Authors: Damien Sanlaville, Caroline Schluth-Bolard and Catherine Turleau

    Citation: Orphanet Journal of Rare Diseases 2009 4:4

    Content type: Review

    Published on:

  14. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, b...

    Authors: Lokesh C Wijesekera and P Nigel Leigh

    Citation: Orphanet Journal of Rare Diseases 2009 4:3

    Content type: Review

    Published on:

  15. Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, overr...

    Authors: Frederique Bailliard and Robert H Anderson

    Citation: Orphanet Journal of Rare Diseases 2009 4:2

    Content type: Review

    Published on:

  16. Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origi...

    Authors: Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan and Emmanuel Jacquemin

    Citation: Orphanet Journal of Rare Diseases 2009 4:1

    Content type: Review

    Published on:

  17. Malignant mesothelioma is a fatal asbestos-associated malignancy originating from the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as the pericardium and the tunica vaginalis. The...

    Authors: Alastair J Moore, Robert J Parker and John Wiggins

    Citation: Orphanet Journal of Rare Diseases 2008 3:34

    Content type: Review

    Published on:

  18. The Orphan Drug Act (1983) established several incentives to encourage the development of orphan drugs (ODs) to treat rare diseases and conditions. This study analyzed the characteristics of OD designations, a...

    Authors: Enrique Seoane-Vazquez, Rosa Rodriguez-Monguio, Sheryl L Szeinbach and Jay Visaria

    Citation: Orphanet Journal of Rare Diseases 2008 3:33

    Content type: Research

    Published on:

  19. Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms.

    Authors: Lorenzo Lo Muzio

    Citation: Orphanet Journal of Rare Diseases 2008 3:32

    Content type: Review

    Published on:

  20. The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence ...

    Authors: Agatino Battaglia

    Citation: Orphanet Journal of Rare Diseases 2008 3:30

    Content type: Review

    Published on:

  21. Retroperitoneal fibrosis (RPF) is a rare fibroinflammatory disease that leads to hydronephrosis and renal failure. In a case-control study, we have recently shown that asbestos exposure was the most important ...

    Authors: Toomas Uibu, Ritva Järvenpää, Jari Hakomäki, Anssi Auvinen, Eero Honkanen, Kaj Metsärinne, Pekka Roto, Heikki Saha, Jukka Uitti and Panu Oksa

    Citation: Orphanet Journal of Rare Diseases 2008 3:29

    Content type: Research

    Published on:

  22. Transposition of the great arteries (TGA), also referred to as complete transposition, is a congenital cardiac malformation characterised by atrioventricular concordance and ventriculoarterial (VA) discordance...

    Authors: Paula Martins and Eduardo Castela

    Citation: Orphanet Journal of Rare Diseases 2008 3:27

    Content type: Review

    Published on:

  23. Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.

    Authors: Heinz Jungbluth, Carina Wallgren-Pettersson and Jocelyn Laporte

    Citation: Orphanet Journal of Rare Diseases 2008 3:26

    Content type: Review

    Published on:

  24. Mixed cryoglobulinemia (MC), type II and type III, refers to the presence of circulating cryoprecipitable immune complexes in the serum and manifests clinically by a classical triad of purpura, weakness and ar...

    Authors: Clodoveo Ferri

    Citation: Orphanet Journal of Rare Diseases 2008 3:25

    Content type: Review

    Published on:

  25. Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disease subdivided into three phenotypes of increasing severity: Scheie, Hurler-Scheie and Hurler. To gauge the effectiveness of treatments and ...

    Authors: David Moore, Martin J Connock, Ed Wraith and Christine Lavery

    Citation: Orphanet Journal of Rare Diseases 2008 3:24

    Content type: Research

    Published on:

  26. Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excre...

    Authors: Nine VAM Knoers and Elena N Levtchenko

    Citation: Orphanet Journal of Rare Diseases 2008 3:22

    Content type: Review

    Published on:

  27. Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately ...

    Authors: Dag Malm and Øivind Nilssen

    Citation: Orphanet Journal of Rare Diseases 2008 3:21

    Content type: Review

    Published on:

  28. Cluster headache (CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (...

    Authors: Elizabeth Leroux and Anne Ducros

    Citation: Orphanet Journal of Rare Diseases 2008 3:20

    Content type: Review

    Published on:

  29. Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble ...

    Authors: Rola Zamel, Razi Khan, Rebecca L Pollex and Robert A Hegele

    Citation: Orphanet Journal of Rare Diseases 2008 3:19

    Content type: Case Report

    Published on:

  30. Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is esti...

    Authors: Lia Crotti, Giuseppe Celano, Federica Dagradi and Peter J Schwartz

    Citation: Orphanet Journal of Rare Diseases 2008 3:18

    Content type: Review

    Published on:

  31. Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifes...

    Authors: Philippe Chanson and Sylvie Salenave

    Citation: Orphanet Journal of Rare Diseases 2008 3:17

    Content type: Review

    Published on:

  32. Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types ...

    Authors: Samia A Temtamy and Mona S Aglan

    Citation: Orphanet Journal of Rare Diseases 2008 3:15

    Content type: Review

    Published on:

  33. The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated...

    Authors: Mary C Phelan

    Citation: Orphanet Journal of Rare Diseases 2008 3:14

    Content type: Review

    Published on:

  34. LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, ...

    Authors: Anna Sarkozy, Maria Cristina Digilio and Bruno Dallapiccola

    Citation: Orphanet Journal of Rare Diseases 2008 3:13

    Content type: Review

    Published on:

  35. McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence ...

    Authors: Claudia E Dumitrescu and Michael T Collins

    Citation: Orphanet Journal of Rare Diseases 2008 3:12

    Content type: Review

    Published on:

  36. In recent years, the use of adaptive design methods in clinical research and development based on accrued data has become very popular due to its flexibility and efficiency. Based on adaptations applied, adapt...

    Authors: Shein-Chung Chow and Mark Chang

    Citation: Orphanet Journal of Rare Diseases 2008 3:11

    Content type: Review

    Published on:

  37. The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (e...

    Authors: Leslie G Biesecker

    Citation: Orphanet Journal of Rare Diseases 2008 3:10

    Content type: Review

    Published on:

  38. The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just ...

    Authors: Sivakumar Sathasivam

    Citation: Orphanet Journal of Rare Diseases 2008 3:9

    Content type: Review

    Published on:

  39. Idiopathic pulmonary fibrosis (IPF) is a non-neoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known provocation. IPF is a rare disease w...

    Authors: Eric B Meltzer and Paul W Noble

    Citation: Orphanet Journal of Rare Diseases 2008 3:8

    Content type: Review

    Published on:

  40. Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, ...

    Authors: Michaela Auer-Grumbach

    Citation: Orphanet Journal of Rare Diseases 2008 3:7

    Content type: Review

    Published on:

  41. : Syndromic diarrhea (SD), also known as phenotypic diarrhea (PD) or tricho-hepato-enteric syndrome (THE), is a congenital enteropathy presenting with early-onset of severe diarrhea requiring parenteral nutrit...

    Authors: Olivier Goulet, Christine Vinson, Bertrand Roquelaure, Nicole Brousse, Christine Bodemer and Jean-Pierre Cézard

    Citation: Orphanet Journal of Rare Diseases 2008 3:6

    Content type: Review

    Published on:

  42. Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by dilated intestinal lacteals resulting in lymph leakage into the small bowel lumen and responsible for protein-losing enteropathy le...

    Authors: Stéphane Vignes and Jérôme Bellanger

    Citation: Orphanet Journal of Rare Diseases 2008 3:5

    Content type: Review

    Published on:

  43. Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The incidence is estimated to be about 1:50,000 live-born infants. In the commonest f...

    Authors: Catherine Turleau

    Citation: Orphanet Journal of Rare Diseases 2008 3:4

    Content type: Review

    Published on:

  44. Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be hi...

    Authors: Judith VMG Bovée

    Citation: Orphanet Journal of Rare Diseases 2008 3:3

    Content type: Review

    Published on: