-
321
Protective Effects of Chicken Egg Yolk Immunoglobulins (IgYs) against Vibrio vulnificus Infections
Published 2021-01-01“…Vibrio (V.) vulnificus infection is a rare disease whose death rates exceed 50% despite aggressive antibiotic treatment and surgical debridement. …”
Get full text
Article -
322
A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome
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. …”
Get full text
Article -
323
A Rare Case of Malignant Tumor of the Larynx with Good Prognosis: Laryngeal Chondrosarcoma
Published 2019-01-01“…Laryngeal chondrosarcomas remain a rare disease of unknown etiology, with slow and insidious symptoms. …”
Get full text
Article -
324
Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature
Published 2016-01-01“…Agnathia is a rare disease characterized by the absence of a mandible. …”
Get full text
Article -
325
An Uncommon Case of Plasma Cell Mucositis of the Tongue in a Young Man
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. …”
Get full text
Article -
326
A case of massive hematoma: reflections on hypermobile Ehlers-Danlos syndrome
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. …”
Get full text
Article -
327
Acquired Abdominal Intercostal Hernia: A Case Report and Literature Review
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. …”
Get full text
Article -
328
Marchiafava-Bignami Disease: a Reality. A Case Report
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.…”
Get full text
Article -
329
Orthopedic Manifestations of Mobius Syndrome: Case Series and Survey Study
Published 2016-01-01“…Mobius Syndrome is a rare disease defined by bilateral congenital 7th nerve palsy. …”
Get full text
Article -
330
Duodenal Diverticular Perforation after Small Bowel Obstruction: A Case Report
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%. …”
Get full text
Article -
331
Intra-Abdominal Localisation of a Buschke-Lowenstein Tumour: Case Presentation and Review of the Literature
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. …”
Get full text
Article -
332
Characteristics and Treatment Results of 5 Patients with Fibrous Dysplasia and Review of the Literature
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. …”
Get full text
Article -
333
Zollinger–Ellison syndrome: modern aspects of diagnostics and treatment
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. …”
Get full text
Article -
334
Diffuse Neurofibroma in a Patient with Unknown History of NF1
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. …”
Get full text
Article -
335
A Rare Case of Erdheim-Chester Disease (Non-Langerhans Cell Histiocytosis) with Concurrent Langerhans Cell Histiocytosis: A Diagnostic and Therapeutic Challenge
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. …”
Get full text
Article -
336
Myasthenia gravis and Lambert-Eaton myasthenic syndrome: treatment options and guidance for management during COVID-19 pandemic
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. …”
Get full text
Article -
337
Pulmonary Hypertension in Pulmonary Langerhans Cell Granulomatosis
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. …”
Get full text
Article -
338
Isolated Knee Arthritis as Early and Only Symptom of Whipple’s Disease
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.…”
Get full text
Article -
339
Periorbital Necrotising Fasciitis after Minor Skin Trauma
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. …”
Get full text
Article -
340
Misleading Rare Case of Idiopathic Hypertrophic Pachymeningitis
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. …”
Get full text
Article