Showing 321 - 340 results of 431 for search '"rare diseases"', query time: 0.06s Refine Results
  1. 321

    Protective Effects of Chicken Egg Yolk Immunoglobulins (IgYs) against Vibrio vulnificus Infections by Ruizhao Cai, Ning Liu, Penghao Guo, Kang Liao, Mengzhi Li, Junyou Zhu, Shouyi Chen, Lei Chen, Bin Shu, Shaohai Qi

    Published 2021-01-01
    “…Vibrio (V.) vulnificus infection is a rare disease whose death rates exceed 50% despite aggressive antibiotic treatment and surgical debridement. …”
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    Article
  2. 322

    A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome by Soreya BELARBI, Samira Makri MOKRANE

    Published 2022-06-01
    “… Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and RFVT3, respectively. …”
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    Article
  3. 323

    A Rare Case of Malignant Tumor of the Larynx with Good Prognosis: Laryngeal Chondrosarcoma by Abderrahim Elktaibi, Issam Rharrassi, Nabil Hammoune, Youssef Darouassi, Mohammed Amine Hanine, Haddou Ammar

    Published 2019-01-01
    “…Laryngeal chondrosarcomas remain a rare disease of unknown etiology, with slow and insidious symptoms. …”
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    Article
  4. 324

    Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature by Kazuhiro Kajiwara, Tomohiro Tanemoto, Chie Nagata, Aikou Okamoto

    Published 2016-01-01
    “…Agnathia is a rare disease characterized by the absence of a mandible. …”
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    Article
  5. 325

    An Uncommon Case of Plasma Cell Mucositis of the Tongue in a Young Man by Alessandro Antonelli, Fiorella Averta, Federica Diodati, Danila Muraca, Ylenia Brancaccio, Chiara Mignogna, Amerigo Giudice

    Published 2020-01-01
    “…Plasma cell mucositis (PCM) is an unusual plasma cell proliferative disorder of the upper aerodigestive tract. It is a rare disease, and its etiology is not yet known with variable clinical features. …”
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    Article
  6. 326

    A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome by QingHua Liu, Ganhua Zeng, Yu Xiong, Chenyang Xu

    Published 2025-01-01
    “…Ehlers-Danlos Syndrome (EDS) refers to a group of connective tissue disorders characterized by significant clinical and genetic variability, affecting multiple systems in the body. Classified as a rare disease, EDS includes 14 subtypes, all marked by joint hypermobility, skin extensibility, and tissue fragility. …”
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    Article
  7. 327

    Acquired Abdominal Intercostal Hernia: A Case Report and Literature Review by Salim Abunnaja, Kevin Chysna, Inam Shaikh, Giuseppe Tripodi

    Published 2014-01-01
    “…Acquired abdominal intercostal hernia (AAIH) is a rare disease phenomenon where intra-abdominal contents reach the intercostal space directly from the peritoneal cavity through an acquired defect in the abdominal wall musculature and fascia. …”
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    Article
  8. 328

    Marchiafava-Bignami Disease: a Reality. A Case Report by Masleidy Valladares Valle, Juan Ibrahim García Leonard, Ada Sánchez Lozano

    Published 2022-04-01
    “…The case is presented with the aim of evidencing the diagnosis of a rare disease that can be expressed in a variable way and qualifies as a medical emergency.…”
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    Article
  9. 329

    Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study by Philip McClure, David Booy, Julia Katarincic, Craig Eberson

    Published 2016-01-01
    “…Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. …”
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    Article
  10. 330

    Duodenal Diverticular Perforation after Small Bowel Obstruction: A Case Report by Khuram Khan, Saqib Saeed, Haytham Maria, Mohammed Sbeih, Farhana Iqbal, Alexius Ramcharan, Brian Donaldson

    Published 2018-01-01
    “…Duodenal diverticulum is a rare disease that can be easily missed. The incidence of duodenal diverticulum diagnosed by upper GI study is approximately 5%. …”
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    Article
  11. 331

    Intra-Abdominal Localisation of a Buschke-Lowenstein Tumour: Case Presentation and Review of the Literature by N. E. Wester, E. M. Hutten, C. Krikke, Robert A. Pol

    Published 2013-01-01
    “…Giant condyloma acuminatum or Buschke-Lowenstein tumour is a very rare disease which usually is located in the genital, anorectal, and perianal regions. …”
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    Article
  12. 332

    Characteristics and Treatment Results of 5 Patients with Fibrous Dysplasia and Review of the Literature by Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Emine Kartal Baykan, Serap Baydur Sahin, Fusun Saygili

    Published 2015-01-01
    “…About 3% of FD could be in association with McCune-Albright syndrome (MAS). Because FD is a rare disease, there is limited data in the literature about characteristics of disease and response to treatment. …”
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    Article
  13. 333

    Zollinger–Ellison syndrome: modern aspects of diagnostics and treatment by I. V. Mayev, D. N. Andreev, Yu. A. Kucheryavyy, D. T. Dicheva

    Published 2014-10-01
    “…To reflect modern concepts on clinic, diagnostics and treatment of Zollinger–Ellison syndrome (ZES).Key points. ZES is rare disease related to intragastric hyperacidity. Phenomenon of hyperacidity in ZES patients is caused by hypergastrinemia associated with ectopic gastrin production. …”
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    Article
  14. 334

    Diffuse Neurofibroma in a Patient with Unknown History of NF1 by Mahmoud A. K. Ebrahim, Mishal M. AlMutairi, Khaled M. Hindi, Jassem M. Bastaki

    Published 2018-01-01
    “…Malignant peripheral nerve sheath tumor (MPNST) is a rare disease in the parotid gland with a poor prognosis in most cases. …”
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    Article
  15. 335

    A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge by Hamza Hashmi, Drew Murray, John Greenwell, Marwan Shaikh, Soumit Basu, Maxwell Krem

    Published 2018-01-01
    “…ECD can be difficult to diagnose since it is a very rare disease that can affect many organ systems. Diagnosis is based on the pathologic evaluation of involved tissue interpreted within the clinical context. …”
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    Article
  16. 336

    Myasthenia gravis and Lambert-Eaton myasthenic syndrome: treatment options and guidance for management during COVID-19 pandemic by A. Klimašauskienė, R. Bunevičiūtė

    Published 2020-06-01
    “…MG is the most common neuromuscular junction disorder while LEMS is an extraordinary rare disease. The symptomatic treatment of MG and LEMS includes acetylcholinesterase inhibitors. …”
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    Article
  17. 337

    Pulmonary Hypertension in Pulmonary Langerhans Cell Granulomatosis by Matthias Held, Philipp Schnabel, Arne Warth, Berthold Jany

    Published 2012-01-01
    “…Pulmonary Langerhans cell granulomatosis is a rare disease with a variable course. In pulmonary Langerhans cell granulomatosis pulmonary hypertension is frequent and has an independent prognostic impact. …”
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    Article
  18. 338

    Isolated Knee Arthritis as Early and Only Symptom of Whipple’s Disease by Dario Giunchi, Natalie Marcoli, Luca Deabate, Marco Delcogliano, Enrique Testa, Christian Candrian, Paolo Gaffurini

    Published 2018-01-01
    “…Moreover, a review of the scientific literature showed the uncertainty about epidemiology of this rare disease, suggesting that more and specific data are required.…”
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    Article
  19. 339

    Periorbital Necrotising Fasciitis after Minor Skin Trauma by Ceren Günel, Aylin Eryılmaz, Yeşim Başal, Ali Toka

    Published 2014-01-01
    “…Necrotizing fasciitis (NF) is a fatal and rare disease, mainly located in extremity and body. Due to the good blood supply, the occurrence of this infective disease of skin and subcutaneous tissue/fascia is much rarer in the head and neck region. …”
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    Article
  20. 340

    Misleading Rare Case of Idiopathic Hypertrophic Pachymeningitis by Ahmad Rezaee Azandaryani, Amir Mohammad Salehi

    Published 2024-01-01
    “…Idiopathic hypertrophic pachymeningitis (IHP) is a rare disease with diffuse thickening of the dura mater that has no specific clinical symptoms and manifestations and it causes neurosurgeons to misdiagnose. …”
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    Article