leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years. it is causedby failure of mitochondrial respiratory chain and often results in regression of both mental and motor skills and might even lead to death. in some of the inherited neurodegenera...

introduction oculocutaneous albinism (oca) is a genetically heterogeneous autosomal recessive genetic disorder that is characterized by reduced or completely absent pigmentation in the hair, skin, and eyes. conclusions a novel homozygous mutation, the deletion of exons 1 - 5 on the tyr gene, was found on the molecular genetic testing of this patient. exon 1 - 5 deletion on tyr causes a lack of ...

carcinoid tumor is a slow-growing type of neuroendocrine tumor, originating in the enterochromaffin cells and secreting mainly serotonin. the diagnosis is based on clinical symptoms, hormone levels, radiological and nuclear imaging, and histological confirmation. the clinical symptoms are characterized by flushing, diarrhea, abdominal pain, telangiectasia and/or bronchoconstriction. however, mo...

Introduction: Gastroesophageal reflux (GER) is the most common esophageal disorder, which occurs at all ages. GER is defined as the passage of gastric contents into the esophagus. GER disease (GERD), which is a long-term complication, is a common pediatric problem. Clinical manifestations of GERD in infants include regurgitation, irritability, choking, gagging, vomiting, poor weight gain, and r...

Objective: The aim of this study is to profile the complaints in disease application using a symptom survey patients presenting with suspicion Covid-19 and determine disease-specific descriptive characteristics initial symptoms those who were diagnosed disease.
 
 Method: In cross-sectional study, at first admission questioned adult applied Covid Outpatient Clinic between 21 December ...

abstract background: mustard gas, lethal in high doses, affects multiple organs such as skin, eye and respiratory system. we studied the development of late onset mustardinduced polyneuropathy among chemically wounded iranian veterans. methods: in this descriptive study, 100 chemically wounded iranian veterans with severe eye involvement were examined for any signs and symptoms of polyneuropath...