Results 11 to 20 of about 3,060,741 (318)
Anais Brasileiros de Dermatologia, 2014 The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for
Nascimento, Ana Claudia Mendes do +3 more
+37 more sources
Hypereosinophilic syndromes [PDF]
Orphanet Journal of Rare Diseases, 2003 Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 x 10(9)/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders ...
Roufosse, Florence +2 more
openaire +6 more sources
Myelodysplastic syndromes with nephrotic syndrome [PDF]
American Journal of Hematology, 1999 It is sometimes reported that the immunological abnormalities in myelodysplastic syndromes (MDS) induce autoimmune disease (i.e., acute systemic vasculitic syndrome, chronic cutaneous vasculitis, polyneuropathy, relapsing polychondritis, and steroid-responsive pulmonary disorders).
Tadashi Maehara +10 more
openaire +3 more sources
Journal of Applied Clinical Medical Physics, Volume 23, Issue 12, December 2022., 2022 Abstract Background Ultrasonography (US) and 99mTechnetium‐sestamibi scintigraphy (99mTc‐MIBI) are currently first‐line imaging modalities to localize parathyroid adenomas with sensitivities of 80% and 84%, respectively. Therefore, finding other modalities to further improve the diagnostic accuracy for preoperative localization is critically needed ...
Fangyi Liu +7 more
wiley +1 more source
Anais Brasileiros de Dermatologia, 2016 Neurofibromatosis is extremely variable in its presentation. Segmental neurofibromatosis (SNF), which corresponds to NF-type 5 in the Riccardi classification, is a rare disorder. It may go unrecognized if few lesions are observed. We present a case of segmental neurofibromatosis in a 28 year-old patient who presented with multiple papules and nodules ...
Rosmaninho, Aristóteles +3 more
openaire +14 more sources
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Heidinger syndrome - Carcinoid syndrome [PDF]
World Journal of Advanced Research and Reviews, 2021 Carcinoid heart disease was first described in 1954. It develops in over 70% of carcinoid syndrome patients. Up to 20% of patients with carcinoid syndrome have pronounced carcinoid heart disease at diagnosis. Cardiac involvement is usually well tolerated by patients.
Vasil Dimitrov Velchev +4 more
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Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022 Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han +5 more
wiley +1 more source
Anais Brasileiros de Dermatologia, 2015 Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.
Peruzzo, Juliano +4 more
openaire +7 more sources
Does long‐term phenytoin have a place in Dravet syndrome?
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2036-2040, December 2022., 2022 Abstract Anti‐seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however, considerable debate about the sodium‐channel blocker phenytoin, which is often used for status epilepticus, a frequent feature of Dravet syndrome.
George A. Zographos +2 more
wiley +1 more source