Heterogeneity and causation of organ dysfunction in Alström syndrome
نویسندگان
چکیده
منابع مشابه
Alström syndrome
RATIONALE Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS Alström syndrome. INTERVENTIONS Multidisciplinary team approach, with echocardiography, hearin...
متن کاملheterogeneity within the orientalist discourse: representation of the orient in womens travelogues and mens paintings
from 1950s onward, new theories and critical approaches burgeoned across humanities. these theories were context-oriented; as a result, the analysis of discursive practices gained significance. thus, social, political, historical and cultural discourses that have been hitherto marginalized and considered inferior to literary texts, were introduced as important texts to be analyzed by critics. o...
Alström syndrome: current perspectives
Alström syndrome (ALMS) is a rare genetic disorder that has been included in the ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases associated with defects in ciliary structure and function. The development of more powerful genetic approaches has been replaced the strategies to follow for getting a successful molecular diagnosis for these patients, especiall...
متن کاملBrain involvement in Alström syndrome
BACKGROUND Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neurological issues and demonstrate normal intelligence, although delayed psychomotor development and psychiatric disorders have been reported. To date, brain Magnetic Resonance Imag...
متن کاملAcute Multi Organ Dysfunction Syndrome
Severe sepsis and multiorgan dysfunction syndrome may develop in the course of severe sepsis, intoxication, poisoning, crush injury, asystole, drowning, and several other complications. When normal intensive care is insufficient despite vasoactive drugs, respiratory aid, and dialysis, the risk for death is extremely high. Only very little benefit has been noted in various trials using drug admi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cilia
سال: 2012
ISSN: 2046-2530
DOI: 10.1186/2046-2530-1-s1-p8