Results 51 to 60 of about 912,676 (170)

Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions

罕见病研究
Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj   +1 more source

Exploring ITM2A as a new potential target for brain delivery

Fluids and Barriers of the CNS, 2022
Background Integral membrane protein 2A (ITM2A) is a transmembrane protein expressed in a variety of tissues; little is known about its function, particularly in the brain.
Céline Cegarra, C. Chaves, C. Déon, T. M. Do, B. Dumas, A. Frenzel, P. Kuhn, V. Roudieres, J. C. Guillemot, D. Lesuisse   +9 more
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A rare disease.

Critical care (London, England), 2007
Thrombocytopenia is a common finding in critically ill patients. Heparin-induced thrombocytopenia is an infrequent cause of a low platelet count. Intensivists should use the diagnostic classification system developed by the International Society on Thrombosis and Haemostasis to diagnose heparin-induced thrombocytopenia.
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Collecting rare diseases [PDF]

F1000Research, 2014
This editorial introduces the F1000Research rare disease collection. It is common knowledge that for new treatments to be successful there has to be a partnership between the many interested parties such as the patient, advocate, disease foundations, the academic scientists, venture funding organizations, biotech companies, pharmaceutical companies ...
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Thioredoxin and Glutaredoxin Systems as Potential Targets for the Development of New Treatments in Friedreich’s Ataxia

Antioxidants, 2020
The thioredoxin family consists of a small group of redox proteins present in all organisms and composed of thioredoxins (TRXs), glutaredoxins (GLRXs) and peroxiredoxins (PRDXs) which are found in the extracellular fluid, the cytoplasm, the mitochondria ...
Marta Seco-Cervera, Pilar González-Cabo, Federico V. Pallardó, Carlos Romá-Mateo, José Luis García-Giménez   +4 more
doaj   +1 more source

Whipple's disease with constrictive pericarditis: A rare disease with a rare presentation [PDF]

Canadian Journal of Cardiology, 2009
Whipple's disease is a multisystem disease that can affect the heart with predominantly endocardial and pericardial involvement and, less often, myocardial inflammation. Previously diagnosed at autopsy, cardiac involvement in Whipple's disease is being recognized clinically more often. A 58-year-old man with Whipple's-related constrictive pericarditis,
T, Iqbal, A, Karovitch, J, Veinot, R, Saginur, L, Beauchesne   +4 more
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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics, 2020
Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia   +11 more
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Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Orphanet Journal of Rare Diseases, 2023
Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on
Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello, Paola Facchin   +5 more
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COVID-19, A New Possible Mimicker of Interstitial Lung Disease Related to Primary Sjögren’s Syndrome

Case Reports in Medicine, 2023
Introduction. Acute exacerbation of interstitial lung disease (ILD) and COVID-19 pneumonia show many similarities, but also COVID-19 sequelae, mainly when fibrotic features are present, can be difficult to distinguish from chronic ILD observed in ...
Alessia Laneri, Stefania Cerri, Giovanni Della Casa, Antonio Moretti, Andreina Manfredi, Marco Sebastiani, Enrico Clini, Carlo Salvarani   +7 more
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A rare presentation of a rare disease [PDF]

Journal of Clinical Pathology, 2003
A 29 year old woman presented to the gynaecology services with a history of cervical smear cytology and punch biopsy showing human papillomavirus related changes, associated with moderate dyskaryosis. She had undergone laser loop excision biopsy of the transformation zone (LLETZ) two years before for previous abnormal smears.
Y Steppeler, H Shaikh
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