Results 41 to 50 of about 46,735 (152)
Indian Journal of Dental Research, 2007 Systemic sclerosis (scleroderma) is a rare generalized disorder of connective tissue origin. This condition is predominantly a clinical diagnosis, based on the clinical signs and symptoms.
Ahathya R, Deepalakshmi D, Emmadi Pamela
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Síndrome de CREST e hipertensão pulmonar: prognóstico sombrio.
Acta Médica Portuguesa, 2004 The CREST syndrome initially described as a limited, more indolent form of diffuse scleroderma, is characterized by calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias.
Ana C Carneiro +2 more
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Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development
Stem Cell Reports, 2019 Summary: The neural crest (NC) gives rise to a multitude of fetal tissues, and its misregulation is implicated in congenital malformations. Here, we investigated molecular mechanisms pertaining to NC-related symptoms in Bohring-Opitz syndrome (BOS), a ...
Friederike Matheus +12 more
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Pulmonary hypertension in patients with systemic sclerosis with CREST-syndrome and without it
Терапевтический архив, 2004 Aim. To study incidence rate and characteristics of pulmonary hypertension development in patients with systemic sclerosis (SS). Material and methods.
N A Karoli, A P Rebrov, E E Orlova
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Paediatric Horner Syndrome: How much further to investigate?
Indian Journal of Ophthalmology, 2020 We report an infant with an early-onset Horner syndrome and normal urinary catecholamine levels. Further investigations with Nuclear medicine imaging with123I-MIBG (meta-iodo benzyl-guanidine) confirmed a right thoracic inlet mass consistent with a ...
Manjushree Bhate +3 more
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Myelodysplastic Syndrome: Riding the Crest of the Wave
Journal of Clinical Medicine, 2022 Myelodysplastic syndrome (MDS) is a group of clonal disorders that arise in pluripotent bone marrow stem cells and present with characteristic phenotypical features (both morphological and flow cytometrical), as well as genotypical abnormalities [...]
openaire +2 more sources
Nature CommunicationsANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects.
Yana Kibalnyk +15 more
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Frontiers in Physiology, 2019 Wolf-Hirschhorn Syndrome (WHS) is a human developmental disorder arising from a hemizygous perturbation, typically a microdeletion, on the short arm of chromosome four.
Alexandra Mills +6 more
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Gastroenterology Insights, 2016 Mucocele is an uncommon pathology of the vermiform appendix estimated to be seen in 0.2-0.3%. The term mucocele means dilation of the appendix due to mucus, caused either by a benign or a malignant process. Herein, we report the case of a 77-year-old man
Hanen Loukil +3 more
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CREST Syndrome with Pulmonary Arterial Hypertension
Internal Medicine, 2012 A 79-year-old woman was admitted to our hospital with effort dyspnea. Plain radiographs of the chest showed an enlargement of the heart and pleural fluid (Picture 1). Echocardiography showed remarkable right heart loading (Picture 2). Pulmonary arterial hypertension (PAH) and right heart failure manifesting hepatomegaly, ascites, jugular venous ...
Fukuda, Yusuke +2 more
openaire +3 more sources