Results 221 to 230 of about 103,960 (266)
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[Autoinflammatory syndromes: inborn errors of natural immunity].
Recenti progressi in medicina, 2007The notion of autoinflammatory diseases delineates a heterogenous group of genetic pathologies characterized by spontaneous periodic systemic inflammation in the absence of infectious or autoimmune causes. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to minor stimuli or turned ...
COLINA, Matteo +6 more
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Refractive errors in patients with Bardet Biedl syndrome
Ophthalmic GeneticsBardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy. Within corneal development, primary cilia serve a critical role. We sought to investigate the association of BBS with corneal astigmatism among a cohort of patients with BBS.This was a cross-sectional, retrospective study performed at a pediatric ophthalmology department of a ...
Leyla Yavuz Saricay +6 more
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Evolving error profiles during aphasia syndrome remission
Aphasiology, 1988Abstract Change in expressive error patterns was evaluated in twenty post-stroke aphasic patients. Two expressive tasks (repetition and naming) completed within the first, third, sixth, and twelfth months post-onset provided the data base. Response opportunities were evaluated in reference to four error types: (1) no response, (2) phonologic, (3 ...
Michael A. Crary, Andrew Kertesz
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Pediatric neurological syndromes and inborn errors of purine metabolism
Neurochemistry International, 2010This review is devised to gather the presently known inborn errors of purine metabolism that manifest neurological pediatric syndromes. The aim is to draw a comprehensive picture of these rare diseases, characterized by unexpected and often devastating neurological symptoms.
CAMICI, MARCELLA +3 more
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Inborn errors of metabolism and Reye syndrome: Differential diagnosis
The Journal of Pediatrics, 1988Si, au debut, le diagnostic et le traitement du syndrome de Reye (SR) et des erreurs hereditaires du metabolisme (ECM) qui lui ressemblent sont identiques, ensuite, les recherches diagnostiques, le traitement, le pronostic varient avec la cause sous-jacente.
C L, Greene, M G, Blitzer, E, Shapira
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Inborn Errors of Immunity and Cytokine Storm Syndromes
Inborn errors of immunity (IEI) are a diverse and growing category of more than 430 chronic disorders that share susceptibilities to infections. Whether the result of a genetic lesion that causes defective granule-dependent cytotoxicity, excessive lymphoproliferation, or an overwhelming infection represents a unique antigenic challenge, IEIs can ...Whitney, Reid, Neil, Romberg
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Avoiding Management Errors in Patients with Obesity Hypoventilation Syndrome
Annals of the American Thoracic Society, 2016The prevalence of obesity hypoventilation syndrome and obstructive sleep apnea are increasing rapidly in the United States in parallel with the obesity epidemic. As the pathogenesis of this chronic illness is better understood, effective evidence-based therapies are being deployed to reduce morbidity and mortality.
Constantine A, Manthous, Babak, Mokhlesi
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[Ogilvie's syndrome: clinical reality or nosographic error?].
Annali italiani di chirurgia, 1993The authors report their experience in the management of Ogilvie's syndrome, a rare form of large bowel acute pseudo-obstruction. The study includes fifteen cases of the disease. There were ten males and five female, with a mean age of sixty-two years (range 45-92).
M, Morosini +5 more
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[Compartment syndrome--indication for a treatment error?].
Aktuelle Traumatologie, 1992The compartment syndrome is a complication caused by trauma or treatment, which indicates liability especially as a result of minor injuries or treatment. According to the outstanding importance of observation of the course of treatment the careful documentation also has to be stressed.
V, Echtermeyer, E, Ludolph
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Refractive Errors in the Fragile‐X Syndrome
Acta Paediatrica, 1985A, Flood, G, Sanner
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